ClinVar Miner

Variants from Yale Center for Mendelian Genomics,Yale University

Location: United States — Primary collection method: literature only
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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 association not provided total
92 99 12 0 0 11 2 215

Gene and significance breakdown #

Total genes and gene combinations: 81
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Gene or gene combination pathogenic likely pathogenic uncertain significance association not provided total
PNPLA1 14 0 0 0 2 16
NALCN 13 0 0 0 0 13
GREB1L 0 0 0 11 0 11
CARD14 9 0 0 0 0 9
PKHD1 0 8 0 0 0 8
UNC80 8 0 0 0 0 8
PRG4 7 0 0 0 0 7
​intergenic 0 2 4 0 0 6
HRAS, LRRC56 1 3 2 0 0 6
MC1R 0 6 0 0 0 6
APC 5 0 0 0 0 5
FAT1 0 5 0 0 0 5
NF1 0 5 0 0 0 5
SLC34A1 0 5 0 0 0 5
SMARCC1 0 5 0 0 0 5
AGXT 0 4 0 0 0 4
JAG1 0 4 0 0 0 4
WNT10A 2 0 2 0 0 4
AVIL 3 0 0 0 0 3
LAMA5 0 0 3 0 0 3
PCDH12 3 0 0 0 0 3
SLC12A1 0 3 0 0 0 3
SLIT2 3 0 0 0 0 3
SOS2 0 3 0 0 0 3
AHCY 0 2 0 0 0 2
COL18A1, SLC19A1 2 0 0 0 0 2
DGKE 2 0 0 0 0 2
DNAH5 0 2 0 0 0 2
DSPP 0 2 0 0 0 2
FGFR1 0 2 0 0 0 2
GRHPR 0 2 0 0 0 2
KRAS 2 1 0 0 0 2
NOTCH2 2 0 0 0 0 2
PRG4, TPR 2 0 0 0 0 2
PTCH1 0 2 0 0 0 2
SRGAP1 2 0 0 0 0 2
TRIM71 0 2 0 0 0 2
ACAT1 1 0 0 0 0 1
AFAP1L2, VWA2 0 1 0 0 0 1
ATP6V1B1 0 1 0 0 0 1
AVIL, TSFM 1 0 0 0 0 1
BRAF 1 0 0 0 0 1
CACNA1S 0 1 0 0 0 1
CLDN16 0 1 0 0 0 1
CLDN19 0 1 0 0 0 1
COL18A1 1 0 0 0 0 1
COL1A2 0 1 0 0 0 1
CPT2 0 1 0 0 0 1
DBNL, PGAM2 0 1 0 0 0 1
DGUOK 0 1 0 0 0 1
FAM186B 0 1 0 0 0 1
GATA6 0 1 0 0 0 1
GBA, LOC106627981 1 0 0 0 0 1
GH-LCR, SCN4A 0 1 0 0 0 1
GNA11 0 1 0 0 0 1
GNA14 0 1 0 0 0 1
GNPTAB 1 0 0 0 0 1
HPGD 1 0 0 0 0 1
INCENP 0 1 0 0 0 1
INPP5B 0 1 0 0 0 1
KIF22 1 0 0 0 0 1
KISS1R 0 0 1 0 0 1
KRT1 1 0 0 0 0 1
LOC100507346, PTCH1 0 1 0 0 0 1
MPV17 1 0 0 0 0 1
MSH6 0 1 0 0 0 1
MYH3 0 1 0 0 0 1
NGLY1 0 1 0 0 0 1
NRAS 0 1 0 0 0 1
NRIP1 1 0 0 0 0 1
OCRL 0 1 0 0 0 1
PFKM 0 1 0 0 0 1
PIAS1 0 1 0 0 0 1
RBM48 0 1 0 0 0 1
RCOR1 0 1 0 0 0 1
RNF213 0 1 0 0 0 1
RYR1 0 1 0 0 0 1
SERAC1 1 0 0 0 0 1
SLC3A1 0 1 0 0 0 1
SLC9A3R1 0 1 0 0 0 1
TG 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 51
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Condition pathogenic likely pathogenic uncertain significance association not provided total
Congenital hydrocephalus 0 12 4 0 0 16
Congenital ichthyosiform erythroderma 14 0 0 0 2 16
Nephrocalcinosis; Nephrolithiasis 0 16 0 0 0 16
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 13 0 0 0 0 13
Midaortic syndrome 0 11 0 0 0 11
Renal agenesis and hypodysplasia 0 0 0 11 0 11
Camptodactyly arthropathy coxa vara pericarditis syndrome 9 0 0 0 0 9
Papulosquamous eruptions 9 0 0 0 0 9
Rhabdomyolysis 0 9 0 0 0 9
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 8 0 0 0 0 8
Nephrotic syndrome 0 5 3 0 0 8
Polycystic liver disease 0 8 0 0 0 8
Vascular Tumors Including Pyogenic Granuloma 0 5 2 0 0 7
Tyrosinase-positive oculocutaneous albinism 0 6 0 0 0 6
Congenital anomalies of the kidney and urinary tract 5 0 0 0 0 5
Familial adenomatous polyposis 1 5 0 0 0 0 5
Nephronophthisis 0 4 0 0 0 4
Reduced number of teeth 2 0 2 0 0 4
Steroid-resistant nephrotic syndrome 4 0 0 0 0 4
Diencephalic-mesencephalic junction dysplasia syndrome 3 0 0 0 0 3
Knobloch syndrome 1 3 0 0 0 0 3
Nevus sebaceous 3 0 0 0 0 3
Noonan syndrome 0 3 0 0 0 3
Alagille syndrome 2 2 0 0 0 0 2
Dent disease 2 0 2 0 0 0 2
Denticles 0 2 0 0 0 2
Gaucher's disease, type 1 1 1 0 0 0 2
Kallmann syndrome 2 0 2 0 0 0 2
Nephrocalcinosis 0 2 0 0 0 2
Primary ciliary dyskinesia 0 2 0 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 0 0 0 1
Atypical hemolytic uremic syndrome 1 0 0 0 0 1
Autoimmune thyroid disease 3 0 1 0 0 0 1
Bilateral cryptorchidism; Microphallus 0 0 1 0 0 1
Congenital anomalies of kidney and urinary tract 1 0 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 1 0 0 0 0 1
Deficiency of acetyl-CoA acetyltransferase 1 0 0 0 0 1
Dentinogenesis imperfecta 0 1 0 0 0 1
Erythroderma, ichthyosiform, congenital reticular 1 0 0 0 0 1
Hemolytic-uremic syndrome 1 0 0 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 0 0 0 0 1
Intellectual disability; Peripheral neuropathy; Neuromotor delay 0 1 0 0 0 1
Joubert syndrome 0 1 0 0 0 1
Kaposiform hemangioendothelioma; Congenital tufted angioma; Lobular capillary hemangioma 0 1 0 0 0 1
Lobular capillary hemangiomas 0 1 0 0 0 1
Navajo neurohepatopathy 1 0 0 0 0 1
Nephrolithiasis; Hypophosphatemia 0 1 0 0 0 1
Portal hypertension, noncirrhotic 0 1 0 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 2 1 0 0 0 0 1
Vesicoureteral reflux 0 1 0 0 0 1

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