ClinVar Miner

Variants from Solve-RD Consortium

Location: Germany  Primary collection method: provider interpretation
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
6 497 2 0 0 503

Gene and significance breakdown #

Total genes and gene combinations: 331
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SPG7 0 15 0 15
KIF1A 0 8 0 8
SPAST 0 8 0 8
TTN 1 7 0 8
DMD 1 6 0 7
SYNE1 0 7 0 7
MT-ATP6 0 6 0 6
SPG11 0 6 0 6
CACNA1A 0 5 0 5
COQ8A 0 5 0 5
KIF5A 0 5 0 5
PRKN 0 5 0 5
REEP1 1 3 1 5
MFN2 0 4 0 4
PRKCG 0 4 0 4
RYR1 0 4 0 4
SPTAN1 0 4 0 4
AP5Z1 0 3 0 3
ATP13A2 0 3 0 3
C19orf12 0 3 0 3
COL6A1 0 3 0 3
GBA2 0 3 0 3
KCNA2 0 3 0 3
KCNQ2 0 3 0 3
MED12 0 3 0 3
MUTYH 0 3 0 3
NPC1 0 3 0 3
PLA2G6 0 3 0 3
PNPLA6 0 3 0 3
SACS 0 3 0 3
SETX 0 3 0 3
SLC6A1 0 3 0 3
SMAD4 0 3 0 3
SYNGAP1 0 3 0 3
TUBB 0 3 0 3
ACTL6B 0 2 0 2
AFG3L2 0 2 0 2
AGRN 0 2 0 2
ANKRD11 0 2 0 2
APC 0 2 0 2
ARID1A 0 2 0 2
ASXL3 0 2 0 2
ATM 0 2 0 2
BMPR1A 0 2 0 2
CACNA1G 0 2 0 2
CAPN3 0 2 0 2
CHD2 0 2 0 2
COL12A1 0 2 0 2
COL6A3 0 2 0 2
CUL4B 0 2 0 2
CYP7B1 0 2 0 2
DDX3X 0 2 0 2
DES 0 2 0 2
DHDDS 0 2 0 2
DOK7 0 2 0 2
DYNC1H1 0 2 0 2
EIF2B4 0 2 0 2
ETHE1 0 2 0 2
EXOSC3 0 2 0 2
FBXL4 0 2 0 2
GRIN2B 0 2 0 2
H1-4 0 2 0 2
HRAS, LRRC56 0 2 0 2
ITPR1 0 2 0 2
LMNA 0 2 0 2
MAPK8IP3 0 2 0 2
MECP2 0 2 0 2
MORC2 0 2 0 2
MVP-DT, PRRT2 0 2 0 2
NAA15 0 2 0 2
NCAPH2, SCO2 0 2 0 2
NFIB 0 2 0 2
PANK2 0 2 0 2
PIK3CA 0 2 0 2
POLR3A 0 2 0 2
POU3F3 0 2 0 2
PTEN 0 2 0 2
SCN8A 0 2 0 2
SLC2A1 0 2 0 2
SMC1A 0 2 0 2
SMCHD1 0 2 0 2
SPTLC1 0 2 0 2
STUB1 0 2 0 2
TAPBPL, VAMP1 0 2 0 2
TBC1D24 0 2 0 2
VPS13A 0 2 0 2
WDR45 0 2 0 2
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3 0 1 0 1
ABCA3, AMDHD2, ATP6V0C, BRICD5, CASKIN1, CCNF, CEMP1, DNASE1L2, E4F1, ECI1, MLST8, NTN3, PGP, RNPS1, TBC1D24, TEDC2 0 1 0 1
ABCC9 0 1 0 1
ABCD1 0 1 0 1
ABHD16A, CSNK2B, GPANK1, LY6G5B, LY6G5C 0 1 0 1
ACOT9, ADGRG2, APOO, ARX, BCLAF3, BEND2, CBLL2, CDKL5, CNKSR2, CXorf58, DCAF8L1, DCAF8L2, DDX53, DMD, EIF1AX, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, KLHL34, LINC01456, LOC101928389, LOC105373150, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC113875017, LOC113875018, LOC113875019, LOC114022706, LOC116309148, LOC116309149, LOC116309150, LOC121627962, LOC121627963, LOC121853052, LOC125446274, LOC125446275, LOC125446276, LOC125446277, LOC126863217, LOC126863218, LOC126863219, LOC126863220, LOC126863221, LOC126863222, LOC126863223, LOC126863224, LOC126863225, LOC126863226, LOC126863227, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC127933115, LOC129391296, LOC130067998, LOC130067999, LOC130068000, LOC130068001, LOC130068002, LOC130068003, LOC130068004, LOC130068005, LOC130068006, LOC130068007, LOC130068008, LOC130068009, LOC130068010, LOC130068011, LOC130068012, LOC130068013, LOC130068014, LOC130068015, LOC130068016, LOC130068017, LOC130068018, LOC130068019, LOC130068020, LOC130068021, LOC130068022, LOC130068023, LOC130068024, LOC130068025, LOC130068026, LOC130068027, LOC130068028, LOC130068029, LOC130068030, LOC130068031, LOC130068032, LOC130068033, LOC130068034, LOC130068035, LOC130068036, LOC130068037, LOC130068038, LOC130068039, LOC130068040, LOC130068041, LOC130068042, LOC130068043, LOC130068044, LOC130068045, LOC130068046, LOC130068047, LOC130068048, LOC130068049, LOC130068050, LOC130068051, LOC130068052, LOC130068053, LOC130068054, LOC130068055, LOC130068056, LOC130068057, LOC130068058, LOC130068059, LOC130068060, LOC130068061, LOC130068062, LOC130068063, LOC130068064, LOC130068065, LOC130068066, LOC130068067, LOC130068068, LOC130068069, LOC130068070, LOC130068071, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, LOC729609, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MAP3K15, MAP7D2, MBTPS2, MIR23C, MIR4666B, MIR4768, MIR6134, NHS, NR0B1, PCYT1B, PDHA1, PDK3, PHEX, PHKA2, POLA1, PPEF1, PPP4R3C, PRDX4, PTCHD1, RAI2, RPS6KA3, RS1, SAT1, SAT1-DT, SCARNA23, SCARNA9L, SCML1, SCML2, SH3KBP1, SMPX, SMS, SUPT20HL1, SUPT20HL2, TAB3, TASL, TRV-TAC1-2, YY2, ZFX 1 0 0 1
ACOT9, APOO, ARX, CXorf58, DCAF8L1, DCAF8L2, DMD, EIF2S3, FTHL17, GK, IL1RAPL1, KLHL15, LOC105373150, LOC108410393, LOC109610631, LOC110120592, LOC110120593, LOC110120594, LOC110120595, LOC110120596, LOC110120597, LOC113875017, LOC113875018, LOC113875019, LOC114022706, LOC116309148, LOC116309149, LOC116309150, LOC121627963, LOC125446276, LOC125446277, LOC126863228, LOC126863229, LOC126863230, LOC126863231, LOC126863232, LOC126863233, LOC126863234, LOC126863235, LOC126863236, LOC127933115, LOC129391296, LOC130068044, LOC130068045, LOC130068046, LOC130068047, LOC130068048, LOC130068049, LOC130068050, LOC130068051, LOC130068052, LOC130068053, LOC130068054, LOC130068055, LOC130068056, LOC130068057, LOC130068058, LOC130068059, LOC130068060, LOC130068061, LOC130068062, LOC130068063, LOC130068064, LOC130068065, LOC130068066, LOC130068067, LOC130068068, LOC130068069, LOC130068070, LOC130068071, LOC130068072, LOC130068073, LOC130068074, LOC130068075, LOC130068076, LOC130068077, LOC130068078, LOC130068079, LOC130068080, LOC130068081, LOC130068082, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MAGEB1, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEB5, MAGEB6, MAGEB6B, MIR4666B, MIR6134, NR0B1, PCYT1B, PDK3, POLA1, PPP4R3C, PRDX4, PTCHD1, SAT1, SAT1-DT, SCARNA23, SUPT20HL1, SUPT20HL2, TAB3, TASL, ZFX 1 0 0 1
ACSL4 0 1 0 1
ACTA1 0 1 0 1
ACTB, FBXL18 0 1 0 1
ADPRS 0 1 0 1
ADSS1 0 1 0 1
AGXT, KIF1A, MAB21L4 0 1 0 1
AHDC1 0 1 0 1
ALDH18A1 0 1 0 1
ALDOA, C16orf54, CDIPT, KIF22, MAZ, MVP, PAGR1, PRRT2, QPRT, SPN, ZG16 0 1 0 1
ALG13 0 1 0 1
AMPD2 0 1 0 1
ANKEF1, BMP2, BTBD3, CHGB, CRLS1, FERMT1, GPCPD1, HAO1, ISM1, JAG1, LAMP5, LRRN4, MCM8, MKKS, PAK5, PLCB1, PLCB4, SHLD1, SLX4IP, SNAP25, SPTLC3, TASP1, TMX4, TRMT6 0 1 0 1
ANO10 0 1 0 1
APLNR, BTBD18, CLP1, CTNND1, MED19, MIR130A, P2RX3, PRG2, PRG3, RTN4RL2, SELENOH, SERPING1, SLC43A1, SLC43A3, SMTNL1, SSRP1, TIMM10, TMX2, TNKS1BP1, UBE2L6, YPEL4, ZDHHC5 0 1 0 1
ARID1B 0 1 0 1
ARL17A, ARL17B, KANSL1, LRRC37A, LRRC37A2, NSF 0 1 0 1
ARMC9, B3GNT7, LINC00471, LOC108348027, LOC114004369, LOC121009629, LOC121725122, LOC121725123, LOC122861306, LOC122861307, LOC122861308, LOC122861309, LOC122861310, LOC126806551, LOC129389008, LOC129389009, LOC129935822, LOC129935823, LOC129935824, LOC129935825, LOC129935826, LOC129935827, LOC129935828, LOC129935829, LOC129935830, LOC129935831, LOC129935832, LOC129935833, LOC129935834, LOC129935835, LOC129935836, LOC129935837, LOC129935838, LOC129935839, LOC129935840, LOC129935841, MIR4777, NCL, NMUR1, SNORA75, SNORD20, SNORD82, TEX44 0 0 1 1
ARX 0 1 0 1
ASXL1 0 1 0 1
ATAD1 0 1 0 1
ATG14, CDKN3, CGRRF1, CNIH1, DLGAP5, FBXO34, GCH1, GMFB, KTN1, LGALS3, MAPK1IP1L, OTX2, PELI2, SAMD4A, SOCS4, TBPL2, TMEM260, WDHD1 0 1 0 1
ATL1 0 1 0 1
ATL1, MAP4K5, SAV1 0 1 0 1
ATN1 0 1 0 1
ATP1A2 0 1 0 1
ATP1A3 0 1 0 1
ATP2B2, BRK1, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IRAK2, PRRT3, SEC13, SLC6A1, SLC6A11, TATDN2, VHL 0 1 0 1
ATP6V0A2 0 1 0 1
ATP6V1A 0 1 0 1
ATP7A 0 1 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 1
AUTS2 0 1 0 1
B4GALNT1 0 1 0 1
BCAS3 0 1 0 1
BCL11A 0 1 0 1
BICRA, EHD2 0 1 0 1
BRAT1 0 1 0 1
BRRIAR, ITPR1 0 1 0 1
C17orf107, CHRNE 0 1 0 1
CACNA1E 0 1 0 1
CACNB4 0 1 0 1
CAMK2G 0 1 0 1
CASQ1 0 1 0 1
CCDC88C 0 1 0 1
CDC42 0 1 0 1
CDH1, TANGO6 0 1 0 1
CDK13 0 1 0 1
CDKL5, RS1 0 1 0 1
CER1, FREM1, NFIB, SNAPC3, TTC39B, ZDHHC21 0 1 0 1
CHCHD10 0 1 0 1
CHD3 0 1 0 1
CHD8, LOC126861888 0 1 0 1
CHUK-DT, CWF19L1 0 1 0 1
CIC 0 1 0 1
CLN5 0 1 0 1
CLTC, PTRH2 0 1 0 1
CNKSR2 0 1 0 1
CNNM2 0 1 0 1
CNOT1 0 1 0 1
COLQ 0 1 0 1
CSF1R 0 1 0 1
CSNK2A1 0 1 0 1
CSNK2B 0 1 0 1
CTNNB1 0 1 0 1
CUX1 0 1 0 1
CWF19L1 0 1 0 1
CYP27A1 0 1 0 1
DCTN1 0 1 0 1
DDHD2 0 1 0 1
DDX59 0 1 0 1
DEPDC5 0 1 0 1
DNM2 0 1 0 1
DYNC2I2, GLE1, SPTAN1 0 1 0 1
DYRK1A 0 1 0 1
DYSF 0 1 0 1
EEF1A2 0 1 0 1
EGOT, ITPR1 0 1 0 1
EIF2AK2 0 1 0 1
EIF2B2 0 1 0 1
EP300 0 1 0 1
F9, FGF13, MCF2 0 0 1 1
FBXO11 0 1 0 1
FGFR2 0 1 0 1
FKBP14 0 1 0 1
FLNA 0 1 0 1
FOXG1 0 1 0 1
FOXP1 0 1 0 1
FUCA1 0 1 0 1
GABRB2 0 1 0 1
GALC, LOC130056217 0 1 0 1
GAMT 0 1 0 1
GARS1 0 1 0 1
GATM 0 1 0 1
GBE1 0 1 0 1
GDAP2 0 1 0 1
GFAP 0 1 0 1
GH-LCR, SCN4A 0 1 0 1
GNB1 0 1 0 1
GRIN1 0 1 0 1
HIVEP2 0 1 0 1
HK1 0 1 0 1
HSPB1 0 1 0 1
HUWE1 0 1 0 1
IBA57 0 1 0 1
IFIH1 0 1 0 1
IRAK1BP1, PHIP 0 1 0 1
KCNA1 0 1 0 1
KCND3 0 1 0 1
KCNH1 0 1 0 1
KCNK9 0 1 0 1
KCNMA1 0 1 0 1
KCNN2 0 1 0 1
KCNT1 0 1 0 1
KDM5C 0 1 0 1
KDM6B 0 1 0 1
KIF1C 0 1 0 1
KLHL7 0 1 0 1
KMT2A 0 1 0 1
LAMA2 0 1 0 1
LMNB2 0 1 0 1
LOC105371520, TMEM107 0 1 0 1
LOC107372315, OSGEP 0 1 0 1
LOC111365186, PSMA3 0 0 1 1
LOC126862611, TLK2 0 1 0 1
LOC126863275, MED12 0 1 0 1
LOC129935026, TBR1 0 1 0 1
LOC129935183, TTN 1 0 0 1
LOC129994721, LOC129994722, MYOT, PKD2L2, PKD2L2-DT 0 1 0 1
LOC130002132, PTCH1 0 1 0 1
LOC130005097, PNPLA2 0 1 0 1
LOC130056973, SPG11 0 1 0 1
LOC130061984, PCYT2 0 1 0 1
LPIN1 0 1 0 1
MAF 0 1 0 1
MAG 0 1 0 1
MAOA 0 1 0 1
MAP1B 0 1 0 1
MAP3K20 0 1 0 1
MAST1 0 1 0 1
MED13L 0 1 0 1
MEIS2 0 1 0 1
MGARP, NAA15, NDUFC1, RAB33B 0 1 0 1
MN1 0 1 0 1
MSL3 0 1 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 0 1 0 1
MT-CO3 0 1 0 1
MT-ND3 0 1 0 1
MT-TK 0 1 0 1
MT-TL1 0 1 0 1
MT-TN 0 1 0 1
MTHFR 0 1 0 1
MTMR2 0 1 0 1
MYH7 0 1 0 1
MYO9A 0 1 0 1
MYPN 0 1 0 1
NAA10 0 1 0 1
NACC1 0 1 0 1
NARS1 0 1 0 1
NBEA 0 1 0 1
NDUFV2 0 1 0 1
NFIA 0 1 0 1
NGLY1 0 1 0 1
NIPA1 0 1 0 1
NKX6-2 0 1 0 1
NPHS1 0 1 0 1
NR4A2 0 1 0 1
NSD2 0 1 0 1
NTNG2 0 1 0 1
OPHN1 0 1 0 1
PALB2 0 1 0 1
PARK7 0 1 0 1
PAX9 0 1 0 1
PBX1 0 1 0 1
PLP1, RAB9B 0 1 0 1
PNPLA2 0 1 0 1
POLG 0 1 0 1
PPP2R5D 0 1 0 1
PRR12 0 1 0 1
PSEN1 0 1 0 1
PUF60 0 1 0 1
SAMD9L 0 1 0 1
SAMHD1 0 1 0 1
SATB2 0 1 0 1
SCN2A 0 1 0 1
SCN4A 0 1 0 1
SELENON 0 1 0 1
SEPSECS 0 1 0 1
SET 0 1 0 1
SETD1B 0 1 0 1
SETD2 0 1 0 1
SGCA 0 1 0 1
SGCG 0 1 0 1
SIL1 0 1 0 1
SIN3A 0 1 0 1
SLC13A5 0 1 0 1
SLC16A2 0 1 0 1
SLC1A4 0 1 0 1
SLC20A2 0 1 0 1
SLC25A24 0 1 0 1
SLC52A2 0 1 0 1
SNHG14, UBE3A 0 1 0 1
SNX14 0 1 0 1
SOD1 0 1 0 1
SORD 0 1 0 1
SPECC1L, SPECC1L-ADORA2A 0 1 0 1
SPEN 0 1 0 1
SPOP 0 1 0 1
SPTBN2 0 1 0 1
STX1B 0 1 0 1
SYT1 0 1 0 1
TAF1 0 1 0 1
TAF2 0 1 0 1
TBK1 0 1 0 1
TBL1XR1 0 1 0 1
TCF20 0 1 0 1
TFG 0 1 0 1
TGM6 0 1 0 1
TLK2 0 1 0 1
TMEM240 0 1 0 1
TRIO 0 1 0 1
TRIP4 0 1 0 1
TRPV4 0 1 0 1
TRRAP 0 1 0 1
TTPA 0 1 0 1
TUBA1A 1 0 0 1
TUBB2A 0 1 0 1
TUBB2B 0 1 0 1
TUBB3 0 1 0 1
UBAP1 0 1 0 1
UCHL1 0 1 0 1
VCP 0 1 0 1
WASHC5 0 1 0 1
WDR73 0 1 0 1
WNK1 0 1 0 1
ZBTB18 0 1 0 1
ZFYVE26 0 1 0 1
ZNF462 0 1 0 1

Condition and significance breakdown #

Total conditions: 310
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Hereditary spastic paraplegia 7 0 16 0 16
Autosomal recessive limb-girdle muscular dystrophy type 2J 2 7 0 9
Hereditary spastic paraplegia 30 0 8 0 8
Hereditary spastic paraplegia 4 0 8 0 8
Autosomal recessive ataxia, Beauce type 0 7 0 7
Becker muscular dystrophy 1 6 0 7
Charcot-Marie-Tooth disease axonal type 2X 0 7 0 7
NARP syndrome 0 7 0 7
Autosomal recessive ataxia due to ubiquinone deficiency 0 5 0 5
Developmental and epileptic encephalopathy, 42 0 5 0 5
Developmental and epileptic encephalopathy, 5 0 5 0 5
Hereditary spastic paraplegia 31 1 3 1 5
Myoclonus, intractable, neonatal 0 5 0 5
Blepharophimosis - intellectual disability syndrome, MKB type 0 4 0 4
Charcot-Marie-Tooth disease type 2A2 0 4 0 4
Epilepsy with myoclonic atonic seizures 0 4 0 4
King Denborough syndrome 0 4 0 4
Ovarian cancer 0 4 0 4
Spinocerebellar ataxia type 14 0 4 0 4
Spinocerebellar ataxia type 15/16 0 4 0 4
Amyotrophic lateral sclerosis type 4 0 3 0 3
Bethlem myopathy 1A 0 3 0 3
Charlevoix-Saguenay spastic ataxia 0 3 0 3
Complex cortical dysplasia with other brain malformations 6 0 3 0 3
Developmental and epileptic encephalopathy, 32 0 3 0 3
Developmental and epileptic encephalopathy, 7 0 3 0 3
Familial meningioma 0 3 0 3
Hereditary spastic paraplegia 39 0 3 0 3
Hereditary spastic paraplegia 46 0 3 0 3
Hereditary spastic paraplegia 48 0 3 0 3
Intellectual disability, autosomal dominant 5 0 3 0 3
Intellectual disability, autosomal dominant 50 0 3 0 3
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 3 0 3
Kufor-Rakeb syndrome 0 3 0 3
Leukoencephalopathy with vanishing white matter 1 0 3 0 3
Macrocephaly, acquired, with impaired intellectual development 0 3 0 3
Neurodegeneration with brain iron accumulation 2B 0 3 0 3
Neurodegeneration with brain iron accumulation 4 0 3 0 3
Niemann-Pick disease, type C1 0 3 0 3
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 0 3 0 3
Autism, susceptibility to, X-linked 3 0 2 0 2
Autosomal recessive spinocerebellar ataxia 16 0 2 0 2
Autosomal recessive spinocerebellar ataxia 17 0 2 0 2
Bethlem myopathy 2 0 2 0 2
CLOVES syndrome 0 2 0 2
Cardiac valvular dysplasia, X-linked 0 2 0 2
Charcot-Marie-Tooth disease axonal type 2O 0 2 0 2
Charcot-Marie-Tooth disease axonal type 2Z 0 2 0 2
Coffin-Siris syndrome 1 0 2 0 2
Cognitive impairment with or without cerebellar ataxia 0 2 0 2
Complex hereditary spastic paraplegia 0 2 0 2
Congenital bile acid synthesis defect 3 0 2 0 2
Congenital muscular hypertrophy-cerebral syndrome 0 2 0 2
Congenital myasthenic syndrome 8 0 2 0 2
Developmental and epileptic encephalopathy 94 0 2 0 2
Dystonia 27 0 2 0 2
Encephalopathy due to GLUT1 deficiency 0 2 0 2
Episodic kinesigenic dyskinesia 1 0 2 0 2
Ethylmalonic encephalopathy 0 2 0 2
Facioscapulohumeral muscular dystrophy 2 0 2 0 2
Familial adenomatous polyposis 2 0 2 0 2
Fetal akinesia deformation sequence 3 0 2 0 2
Gastric cancer 0 2 0 2
Heart-hand syndrome, Slovenian type 0 2 0 2
Intellectual developmental disorder with severe speech and ambulation defects 0 2 0 2
Intellectual disability, X-linked 102 0 2 0 2
Intellectual disability, autosomal dominant 14 0 2 0 2
Intellectual disability, autosomal dominant 57 0 2 0 2
Intellectual disability, autosomal dominant 6 0 2 0 2
KBG syndrome 0 2 0 2
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 2 0 2
Linear nevus sebaceous syndrome 0 2 0 2
Mitochondrial DNA depletion syndrome 13 0 2 0 2
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 2 0 2
Myasthenic syndrome, congenital, 25, presynaptic 0 2 0 2
Myopia 6 0 2 0 2
Neurodegeneration with brain iron accumulation 5 0 2 0 2
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 2 0 2
Neurogenic scapuloperoneal syndrome, Kaeser type 0 2 0 2
Neuropathy, hereditary sensory and autonomic, type 1A 0 2 0 2
Neuropathy, hereditary sensory, type 1D 0 2 0 2
Neutral lipid storage myopathy 0 2 0 2
Pigmentary pallidal degeneration 0 2 0 2
Poirier-Bienvenu neurodevelopmental syndrome 0 2 0 2
Polyposis syndrome, hereditary mixed, 2 0 2 0 2
Pontocerebellar hypoplasia type 1B 0 2 0 2
Potassium-aggravated myotonia 0 2 0 2
Rahman syndrome 0 2 0 2
Retinitis pigmentosa 59 0 2 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 2 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 2 0 2
Snijders blok-fisher syndrome 0 2 0 2
Spinocerebellar ataxia type 28 0 2 0 2
Spinocerebellar ataxia type 42 0 2 0 2
VPS13A-related neurodegenerative disease 0 2 0 2
X-linked intellectual disability Cabezas type 0 2 0 2
8q24.3 microdeletion syndrome 0 1 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 0 1
Acute lymphoid leukemia 0 1 0 1
Adrenoleukodystrophy 0 1 0 1
Aicardi-Goutieres syndrome 5 0 1 0 1
Aicardi-Goutieres syndrome 7 0 1 0 1
Alexander disease 0 1 0 1
Allan-Herndon-Dudley syndrome 0 1 0 1
Alternating hemiplegia of childhood 2 0 1 0 1
Alzheimer disease 3 0 1 0 1
Angelman syndrome 0 1 0 1
Arginine:glycine amidinotransferase deficiency 0 1 0 1
Arthrogryposis multiplex congenita 0 0 1 1
Ataxia-telangiectasia syndrome 0 1 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 1
Autosomal dominant spastic ataxia 0 1 0 1
Autosomal recessive complex spastic paraplegia type 9B 0 1 0 1
Autosomal recessive cutis laxa type 2D 0 1 0 1
Autosomal recessive early-onset Parkinson disease 7 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 1 0 1
Autosomal recessive spinocerebellar ataxia 10 0 1 0 1
Autosomal recessive spinocerebellar ataxia 14 0 1 0 1
Autosomal recessive spinocerebellar ataxia 20 0 1 0 1
Basilicata-Akhtar syndrome 0 1 0 1
Birk-Barel syndrome 0 1 0 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 1 0 1
Brain malformations with or without urinary tract defects 0 1 0 1
Brown-Vialetto-van Laere syndrome 2 0 1 0 1
Brunner syndrome 0 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 1
Cataract 21 multiple types 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2F 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 1 0 1
Charcot-Marie-Tooth disease type 4B1 0 1 0 1
Chilblain lupus 1 0 1 0 1
Cholestanol storage disease 0 1 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 1 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 1
Congenital disorder of deglycosylation 1 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 1
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0 1 0 1
Congenital myasthenic syndrome 18 0 1 0 1
Congenital myasthenic syndrome 4C 0 1 0 1
Congenital myasthenic syndrome 5 0 1 0 1
Congenital myopathy 4A, autosomal dominant 0 1 0 1
Cutis laxa with osteodystrophy 0 1 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 1
Deficiency of guanidinoacetate methyltransferase 0 1 0 1
Developmental and epileptic encephalopathy 92 0 1 0 1
Developmental and epileptic encephalopathy, 14 0 1 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 1
Developmental and epileptic encephalopathy, 25 0 1 0 1
Developmental and epileptic encephalopathy, 36 0 1 0 1
Developmental and epileptic encephalopathy, 69 0 1 0 1
Developmental delay with or without dysmorphic facies and autism 0 1 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 1 0 1
Dias-Logan syndrome 0 1 0 1
Dilated cardiomyopathy 1KK 0 1 0 1
Dilated cardiomyopathy 1O 0 1 0 1
Distal myopathy with anterior tibial onset 0 1 0 1
Duchenne muscular dystrophy 1 0 0 1
Dystonia 22, juvenile-onset 0 1 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 1 0 1
Endometrial carcinoma 0 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 9 0 1 0 1
Episodic ataxia type 1 0 1 0 1
FOXG1 disorder 0 1 0 1
Familial digital arthropathy-brachydactyly 0 1 0 1
Familial isolated deficiency of vitamin E 0 1 0 1
Familial scaphocephaly syndrome, McGillivray type 0 1 0 1
Fanconi anemia complementation group N 0 1 0 1
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 0 1 0 1
Finnish congenital nephrotic syndrome 0 1 0 1
Fontaine progeroid syndrome 0 1 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 0 1 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0 1 0 1
Fucosidosis 0 1 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 1
Galloway-Mowat syndrome 1 0 1 0 1
Galloway-Mowat syndrome 3 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 1 0 1
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 1 0 1
Global developmental delay with or without impaired intellectual development 0 1 0 1
Glycogen storage disease, type IV 0 1 0 1
HNSHA due to aldolase A deficiency 0 1 0 1
Hengel-Maroofian-Schols syndrome 0 1 0 1
Hereditary spastic paraplegia 0 0 1 1
Hereditary spastic paraplegia 11 0 1 0 1
Hereditary spastic paraplegia 15 0 1 0 1
Hereditary spastic paraplegia 26 0 1 0 1
Hereditary spastic paraplegia 54 0 1 0 1
Hereditary spastic paraplegia 57 0 1 0 1
Hereditary spastic paraplegia 6 0 1 0 1
Hereditary spastic paraplegia 63 0 1 0 1
Hereditary spastic paraplegia 75 0 1 0 1
Holoprosencephaly 12 with or without pancreatic agenesis 0 1 0 1
Holoprosencephaly 7 0 1 0 1
Houge-Janssens syndrome 1 0 1 0 1
Hyperekplexia 4 0 1 0 1
Hyperphosphatasia with intellectual disability syndrome 5 0 1 0 1
Idiopathic basal ganglia calcification 1 0 1 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0 1 0 1
Intellectual developmental disorder 59 0 1 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 1
Intellectual developmental disorder with autism and speech delay 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 1
Intellectual disability, X-linked 63 0 1 0 1
Intellectual disability, X-linked syndromic, Turner type 0 1 0 1
Intellectual disability, X-linked, syndromic 33 0 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 1 0 1
Intellectual disability, X-linked, with or without seizures, ARX-related 0 1 0 1
Intellectual disability, autosomal dominant 22 0 1 0 1
Intellectual disability, autosomal dominant 38 0 1 0 1
Intellectual disability, autosomal dominant 41 0 1 0 1
Intellectual disability, autosomal dominant 43 0 1 0 1
Intellectual disability, autosomal dominant 45 0 1 0 1
Intellectual disability, autosomal dominant 58 0 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 0 1
Koolen-de Vries syndrome 0 1 0 1
Leukoencephalopathy with calcifications and cysts 0 1 0 1
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 0 1 0 1
Lipodystrophy, partial, acquired, susceptibility to 0 1 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 1
Lower motor neuron syndrome with late-adult onset 0 1 0 1
Luscan-Lumish syndrome 0 1 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 1 0 1
Marinesco-Sjögren syndrome 0 1 0 1
Maternally-inherited mitochondrial myopathy 0 1 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 1 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 1
Microcephaly-thin corpus callosum-intellectual disability syndrome 0 1 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 7 0 1 0 1
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 3 0 1 0 1
Myasthenic syndrome, congenital, 24, presynaptic 0 1 0 1
Myelodysplastic syndrome 0 1 0 1
Myofibrillar myopathy 3 0 1 0 1
Myoglobinuria, acute recurrent, autosomal recessive 0 1 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 1 0 1
Myopathy, distal, 5 0 1 0 1
Myosin storage myopathy 0 1 0 1
Neonatal-onset encephalopathy with rigidity and seizures 0 1 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 0 1
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 0 1 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 0 1
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 0 1 0 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 1 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 1 0 1
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 0 1 0 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 0 1 0 1
Neuronal ceroid lipofuscinosis 5 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 0 1 0 1
Neuronopathy, distal hereditary motor, type 7B 0 1 0 1
Neuroocular syndrome 1 0 1 0 1
Ogden syndrome 0 1 0 1
Okur-Chung neurodevelopmental syndrome 0 1 0 1
Orofaciodigital syndrome V 0 1 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 1
Parkinson disease 5, autosomal dominant, susceptibility to 0 1 0 1
Pelizaeus-Merzbacher disease 0 1 0 1
Periventricular nodular heterotopia 9 0 1 0 1
Pontocerebellar hypoplasia type 10 0 1 0 1
Pontocerebellar hypoplasia type 2D 0 1 0 1
Progressive scapulohumeroperoneal distal myopathy 0 1 0 1
Pseudohypoaldosteronism type 2C 0 1 0 1
Pure mitochondrial myopathy 0 1 0 1
Radio-Tartaglia syndrome 0 1 0 1
Rauch-Steindl syndrome 0 1 0 1
Renal hypomagnesemia 6 0 1 0 1
Retinitis pigmentosa 42 0 1 0 1
Retinitis pigmentosa 79 0 1 0 1
Ritscher-Schinzel syndrome 1 0 1 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 1
Seizures, benign familial infantile, 3 0 1 0 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 0 1
Snijders Blok-Campeau syndrome 0 1 0 1
Spastic ataxia 2 0 1 0 1
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 1 0 1
Spastic paraplegia 80, autosomal dominant 0 1 0 1
Spastic paraplegia 82, autosomal recessive 0 1 0 1
Spastic tetraplegia and axial hypotonia, progressive 0 1 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 0 1 0 1
Spinal muscular atrophy with congenital bone fractures 1 0 1 0 1
Spinal muscular atrophy, infantile, James type 0 1 0 1
Spinocerebellar ataxia 49 0 1 0 1
Spinocerebellar ataxia type 19/22 0 1 0 1
Spinocerebellar ataxia type 21 0 1 0 1
Spinocerebellar ataxia type 35 0 1 0 1
Spinocerebellar ataxia type 40 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 27 0 1 0 1
Split-foot malformation-mesoaxial polydactyly syndrome 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 1
Syndromic microphthalmia type 5 0 1 0 1
Teebi hypertelorism syndrome 1 0 1 0 1
Temple-Baraitser syndrome 0 1 0 1
Thrombophilia due to thrombin defect 0 1 0 1
Tooth agenesis, selective, 3 0 1 0 1
Weiss-Kruszka syndrome 0 1 0 1
Wiedemann-Steiner syndrome 0 1 0 1
X-linked distal spinal muscular atrophy type 3 0 1 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 1
not provided 0 0 1 1

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