ClinVar Miner

Variants from University of Washington Center for Mendelian Genomics,University of Washington

Location: United States — Primary collection method: research
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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
108 130 8 4 2 251

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SON 0 16 0 0 0 16
C1R 0 14 0 0 0 14
NALCN 14 0 0 0 0 14
OCA2 0 14 0 0 0 14
TYR 0 14 0 0 0 14
FBN1 0 5 6 2 0 13
PIEZO2 13 0 0 0 0 13
KCTD1 10 0 0 0 0 10
GNB1 0 9 0 0 0 9
RTEL1, RTEL1-TNFRSF6B 9 0 0 0 0 9
INPPL1 7 0 0 0 0 7
ECEL1 6 0 0 0 0 6
FOXE3, LINC01389 0 3 1 2 0 6
MECR 0 6 0 0 0 6
DUOX2 0 5 0 0 0 5
DYNC2H1 0 5 0 0 0 5
MYH3 3 3 0 0 0 5
PLCB4 5 0 0 0 0 5
VWA8 0 5 0 0 0 5
LOX 2 0 0 0 2 4
LOX, SRFBP1 4 0 0 0 0 4
GUCY1A1 3 0 0 0 0 3
KDM1A 3 0 0 0 0 3
PHYH 0 3 0 0 0 3
SLC35A2 3 0 0 0 0 3
TBCK 0 3 0 0 0 3
BRCA1 2 0 0 0 0 2
C1S 0 2 0 0 0 2
CAV1 2 0 0 0 0 2
DYNC1H1 2 0 0 0 0 2
FGFR1 0 2 0 0 0 2
FLVCR1 0 2 0 0 0 2
HKDC1 0 2 0 0 0 2
IFT52 0 2 0 0 0 2
IFT81 0 2 0 0 0 2
LURAP1L, TYRP1 0 2 0 0 0 2
RPS26 2 0 0 0 0 2
SAMD9L 0 2 0 0 0 2
YY1AP1 2 0 0 0 0 2
ZGRF1 0 2 0 0 0 2
ACSS2 1 0 0 0 0 1
ALG1 0 1 0 0 0 1
ALOXE3 1 0 0 0 0 1
ALOXE3, TRK-TTT3-5 1 0 0 0 0 1
CDH18 0 0 1 0 0 1
DCDC2 1 0 0 0 0 1
DCDC2, KAAG1 1 0 0 0 0 1
DMRTC1, DMRTC1B, HDAC8, NAP1L2, PABPC1L2A, PABPC1L2B, PHKA1 1 0 0 0 0 1
GNAI3 1 0 0 0 0 1
ICK 0 1 0 0 0 1
MIR6501, SON 0 1 0 0 0 1
PNPLA1 1 0 0 0 0 1
RPS28 1 0 0 0 0 1
SLC25A16 1 0 0 0 0 1
SLC45A2 0 1 0 0 0 1
SLTM 0 1 0 0 0 1
SSR4 1 0 0 0 0 1
TCIRG1 1 0 0 0 0 1
TGM1 1 0 0 0 0 1
TJP2 1 0 0 0 0 1
TRPV4 0 1 0 0 0 1
TSR2 1 0 0 0 0 1
TYRP1 0 1 0 0 0 1
ZSWIM6 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 45
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nonsyndromic Oculocutaneous Albinism 0 32 0 0 0 32
Familial thoracic aortic aneurysm; Acute aortic dissection 6 8 7 4 2 27
ZTTK syndrome 0 17 0 0 0 17
Ehlers-Danlos syndrome, periodontal type, 2 0 16 0 0 0 16
Congenital contractures of the limbs and face, hypotonia, and developmental delay 14 0 0 0 0 14
Nonsyndromic cleft lip palate 1 10 0 0 0 11
Oculomelic amyoplasia 11 0 0 0 0 11
Scalp ear nipple syndrome 10 0 0 0 0 10
Idiopathic fibrosing alveolitis, chronic form 9 0 0 0 0 9
Seizures; hypotonia; Neurodevelopmental Disability 0 9 0 0 0 9
Opsismodysplasia 7 0 0 0 0 7
Auriculocondylar syndrome 1 6 0 0 0 0 6
Distal arthrogryposis type 5D 6 0 0 0 0 6
Optic atrophy; Childhood Onset Dystonias 0 6 0 0 0 6
Nongoitrous Euthyroid Hyperthyrotropinemia 0 5 0 0 0 5
Short Rib Polydactyly Syndrome 0 5 0 0 0 5
Short-rib thoracic dysplasia 3 with or without polydactyly 0 5 0 0 0 5
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 4 0 0 0 0 4
Ichthyosis 4 0 0 0 0 4
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 3 0 0 0 0 3
Cleft palate, psychomotor retardation, and distinctive facial features 3 0 0 0 0 3
Distal arthrogryposis type 8 3 0 0 0 0 3
Jeune thoracic dystrophy 0 3 0 0 0 3
Moyamoya disease 1 3 0 0 0 0 3
Speech-language disorder 1 0 2 1 0 0 3
Spondylocarpotarsal synostosis syndrome 0 3 0 0 0 3
Syndromic Infantile Encephalopathy 0 3 0 0 0 3
Encephalocraniocutaneous lipomatosis 0 2 0 0 0 2
Fanconi anemia, complementation group A 2 0 0 0 0 2
Gordon's syndrome 2 0 0 0 0 2
Grange syndrome 2 0 0 0 0 2
Mental retardation, autosomal dominant 13 2 0 0 0 0 2
Myelocerebellar disorder 0 2 0 0 0 2
Sclerosing cholangitis, neonatal 2 0 0 0 0 2
Acromelic frontonasal dysostosis 1 0 0 0 0 1
Congenital disorder of glycosylation type 1y 1 0 0 0 0 1
Cornelia de Lange syndrome 5 1 0 0 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 0 1
Isolated nail anomaly 1 0 0 0 0 1
Lipodystrophy, congenital generalized, type 3 1 0 0 0 0 1
Lipodystrophy, congenital generalized, type 3; Primary pulmonary hypertension 3 1 0 0 0 0 1
Marden-Walker syndrome 1 0 0 0 0 1
Metatrophic dysplasia 0 1 0 0 0 1
Neutropenia, severe congenital 1, autosomal dominant 1 0 0 0 0 1
Progressive familial intrahepatic cholestasis 4 1 0 0 0 0 1

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