ClinVar Miner

Variants from King Laboratory, University of Washington

Location: United States  Primary collection method: research
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
155 99 1 0 54 309

Gene and significance breakdown #

Total genes and gene combinations: 80
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
BRCA2 12 0 1 16 29
BRCA1 12 0 0 11 23
MYO7A 10 11 0 0 21
SLC26A4 10 9 0 0 19
CDH23 0 16 0 0 16
PALB2 4 0 0 7 11
ATM 7 0 0 3 10
ATM, C11orf65 6 0 0 3 9
BRIP1 3 0 0 4 7
CHEK2 5 0 0 2 7
STRC 4 3 0 0 7
MYO15A 3 3 0 0 6
OTOF 2 4 0 0 6
TMPRSS3 1 5 0 0 6
BARD1 5 0 0 0 5
LOXHD1 1 4 0 0 5
OTOG 3 2 0 0 5
PCDH15 3 2 0 0 5
ADGRV1 1 3 0 0 4
CDH1 2 0 0 2 4
GPSM2 4 0 0 0 4
OTOA 1 3 0 0 4
TBCEL-TECTA, TECTA 4 0 0 0 4
TMC1 2 2 0 0 4
ESPN 2 1 0 0 3
GJB2 3 0 0 0 3
MYO6 0 3 0 0 3
PAX3 2 1 0 0 3
POLR2F, SOX10 3 0 0 0 3
PTEN 1 0 0 2 3
RAD51D, RAD51L3-RFFL 2 0 0 1 3
TP53 2 0 0 1 3
TRIOBP 3 0 0 0 3
COL11A2 0 2 0 0 2
DMXL2 0 2 0 0 2
EDNRB 0 2 0 0 2
EPS8L2 2 0 0 0 2
GATA3 2 0 0 0 2
ILDR1 2 0 0 0 2
LHFPL5 1 1 0 0 2
MLH1 1 0 0 1 2
OTOGL 0 2 0 0 2
POU4F3, RBM27-POU4F3 2 0 0 0 2
RAD51C 2 0 0 0 2
TWNK 1 1 0 0 2
USH1G 2 0 0 0 2
USH2A 2 0 0 0 2
​intergenic 1 0 0 0 1
ACTG1 0 1 0 0 1
BRCA2, LOC106721785, LOC130009523, ZAR1L 1 0 0 0 1
BRCA2, LOC112163653 1 0 0 0 1
CACNA1D 0 1 0 0 1
CDC14A 0 1 0 0 1
CEACAM16 0 1 0 0 1
CLDN9 0 1 0 0 1
COL4A5 1 0 0 0 1
EYA4 1 0 0 0 1
FGFR2 0 1 0 0 1
GEN1 0 0 0 1 1
GOSR2, LRRC37A2 0 1 0 0 1
GRXCR1 0 1 0 0 1
GSDME 1 0 0 0 1
GZF1 0 1 0 0 1
HSD17B4 0 1 0 0 1
LARS2 0 1 0 0 1
LOC129933334, OTOF 1 0 0 0 1
LRTOMT, TOMT 0 1 0 0 1
MARVELD2 1 0 0 0 1
MITF 0 1 0 0 1
MPZL2 1 0 0 0 1
MSH2 1 0 0 0 1
MYO3A 1 0 0 0 1
NOG 1 0 0 0 1
PDZD7 0 1 0 0 1
PJVK 1 0 0 0 1
POU3F4 1 0 0 0 1
RDX 0 1 0 0 1
SIX1 0 1 0 0 1
SYNE4 1 0 0 0 1
USH1C 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 81
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
not specified 0 0 0 54 54
Familial cancer of breast 20 0 0 0 20
Autosomal recessive nonsyndromic hearing loss 4 10 9 0 0 19
Autosomal recessive nonsyndromic hearing loss 12 0 16 0 0 16
Autosomal recessive nonsyndromic hearing loss 2 8 7 0 0 15
Breast-ovarian cancer, familial, susceptibility to, 2; Hereditary breast ovarian cancer syndrome 14 0 1 0 15
Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome 12 0 0 0 12
Autosomal recessive nonsyndromic hearing loss 16 4 3 0 0 7
Autosomal recessive nonsyndromic hearing loss 3 3 3 0 0 6
Autosomal recessive nonsyndromic hearing loss 8 1 5 0 0 6
Autosomal recessive nonsyndromic hearing loss 18B 3 2 0 0 5
Autosomal recessive nonsyndromic hearing loss 23 3 2 0 0 5
Autosomal recessive nonsyndromic hearing loss 77 1 4 0 0 5
Usher syndrome type 1 2 3 0 0 5
Autosomal recessive nonsyndromic hearing loss 22 1 3 0 0 4
Autosomal recessive nonsyndromic hearing loss 7 2 2 0 0 4
Chudley-McCullough syndrome 4 0 0 0 4
Familial cancer of breast; CHEK2-related cancer predisposition 4 0 0 0 4
Familial cancer of breast; Hereditary cancer-predisposing syndrome 4 0 0 0 4
Malignant tumor of breast 4 0 0 0 4
Tricho-oculo-dermo-vertebral syndrome 1 3 0 0 4
Usher syndrome type 2C 1 3 0 0 4
Autosomal recessive nonsyndromic hearing loss 1A 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 21 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 28 3 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 36 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 2 1 0 0 3
Hereditary site-specific ovarian cancer syndrome 3 0 0 0 3
Waardenburg syndrome type 1 2 1 0 0 3
Autosomal dominant nonsyndromic hearing loss 15 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 37 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 42 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 67 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 84B 0 2 0 0 2
Deafness with anatomical inner ear anomalies 2 0 0 0 2
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma 2 0 0 0 2
Familial colorectal cancer; Lynch syndrome 2 0 0 0 2
Hearing loss, autosomal dominant 71 0 2 0 0 2
Hearing loss, autosomal recessive 106 2 0 0 0 2
Infantile onset spinocerebellar ataxia 1 1 0 0 2
Usher syndrome type 1G 2 0 0 0 2
Usher syndrome type 2A 2 0 0 0 2
Waardenburg syndrome type 4A 0 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 10 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 11 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 4B 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 5 1 0 0 0 1
Autosomal dominant syndrome including deafness 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 18A 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 24 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 25 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 30 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 32 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 59 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 76 1 0 0 0 1
Branchiootic syndrome 3 0 1 0 0 1
CHARGE syndrome 1 0 0 0 1
Deafness, autosomal dominant 1 0 0 0 1
Fanconi anemia complementation group J 1 0 0 0 1
Hearing loss, autosomal recessive 0 1 0 0 1
Hearing loss, autosomal recessive 111 1 0 0 0 1
Hearing loss, autosomal recessive 116 0 1 0 0 1
Hearing loss, autosomal recessive 57 0 1 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 1 0 0 0 1
Joint laxity, short stature, and myopia 0 1 0 0 1
NOG-related-symphlangism spectrum disorder 1 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 1 0 0 1
PTEN hamartoma tumor syndrome 1 0 0 0 1
Perrault syndrome 1 0 1 0 0 1
Perrault syndrome 4 0 1 0 0 1
Sinoatrial node dysfunction and deafness 0 1 0 0 1
Waardenburg syndrome type 2A 0 1 0 0 1
Waardenburg syndrome type 2E 1 0 0 0 1
X-linked Alport syndrome 1 0 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.