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
111 203 14 4 2 333

Gene and significance breakdown #

Total genes and gene combinations: 86
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ALG1 0 30 0 0 0 30
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
TOE1 0 12 0 0 0 12
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
MC1R 0 6 0 0 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
INTU 0 4 0 0 0 4
LOX 2 0 0 0 2 4
LOX, SRFBP1 4 0 0 0 0 4
SRD5A3 0 4 0 0 0 4
WDR35 0 4 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
WDPCP 0 2 1 0 0 3
ACTG2 2 0 0 0 0 2
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
GFM1 0 2 0 0 0 2
HKDC1 0 2 0 0 0 2
HPS1 0 2 0 0 0 2
IFT43 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, EEF2KMT 0 1 0 0 0 1
ALOXE3 1 0 0 0 0 1
ALOXE3, TRK-TTT3-5 1 0 0 0 0 1
ATAD3A 1 0 0 0 0 1
BLOC1S6 0 1 0 0 0 1
CDH18 0 0 1 0 0 1
CILK1 0 1 0 0 0 1
CSMD2 0 0 1 0 0 1
DAGLA 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
HPS3 0 1 0 0 0 1
HPS4 0 1 0 0 0 1
HPS6 0 1 0 0 0 1
MIR6501, SON 0 1 0 0 0 1
NR1D2 0 1 0 0 0 1
PNPLA1 1 0 0 0 0 1
QARS1 0 0 1 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
TBC1D9 0 0 1 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
WDR83, WDR83OS 0 0 1 0 0 1
ZSWIM6 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 58
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Congenital disorder of glycosylation 0 35 0 0 0 35
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
Short Rib Polydactyly Syndrome 0 13 0 0 0 13
Pontocerebellar hypoplasia, type 7 0 12 0 0 0 12
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
Hermansky-Pudlak syndrome 0 6 0 0 0 6
Optic atrophy; Childhood Onset Dystonias 0 6 0 0 0 6
Skin and Hair Hypopigmentation 0 6 0 0 0 6
Attention deficit hyperactivity disorder 0 0 5 0 0 5
Nongoitrous Euthyroid Hyperthyrotropinemia 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
Contractures, pterygia, and variable skeletal fusions syndrome 1A 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
Chronic intestinal pseudoobstruction 2 0 0 0 0 2
Combined oxidative phosphorylation deficiency 0 2 0 0 0 2
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
Orofaciodigital syndromes 0 2 0 0 0 2
Sclerosing cholangitis, neonatal 2 0 0 0 0 2
Acromelic frontonasal dysostosis 1 0 0 0 0 1
Atrioventricular septal defect 0 1 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
Harel-Yoon syndrome 1 0 0 0 0 1
Isolated nail anomaly 1 0 0 0 0 1
Joubert syndrome 0 0 1 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
Mohr syndrome 0 1 0 0 0 1
Nephronophthisis; Growth delay 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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