ClinVar Miner

Variants studied for 17q11.2 microduplication syndrome

Included ClinVar conditions (2):
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 0 1 2 1 10

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic uncertain significance likely benign benign total
NF1 2 0 2 1 5
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6, VILMIR 1 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, MIR193A, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, UTP6 1 0 0 0 1
COPRS, EVI2A, EVI2B, LRRC37B, MIR193A, NF1, OMG, RAB11FIP4, SUZ12, UTP6 1 0 0 0 1
RNF135 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Department of Pathology and Laboratory Medicine, Sinai Health System 2 0 2 1 5
Baylor Genetics 0 1 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 1
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University 1 0 0 0 1

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