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 total
18 59 2 0 0 78

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
HRAS, LRRC56 1 3 2 6
MC1R 0 6 0 6
APC 5 0 0 5
SLC34A1 0 5 0 5
AGXT 0 4 0 4
SLC12A1 0 3 0 3
AHCY 0 2 0 2
DGKE 2 0 0 2
DNAH5 0 2 0 2
DSPP 0 2 0 2
FGFR1 0 2 0 2
GRHPR 0 2 0 2
KRAS 2 1 0 2
ACAT1 1 0 0 1
ATP6V1B1 0 1 0 1
BRAF 1 0 0 1
CACNA1S 0 1 0 1
CLDN16 0 1 0 1
CLDN19 0 1 0 1
COL18A1 1 0 0 1
COL18A1, SLC19A1 1 0 0 1
COL1A2 0 1 0 1
CPT2 0 1 0 1
DBNL, PGAM2 0 1 0 1
DGUOK 0 1 0 1
FAM186B 0 1 0 1
GBA, LOC106627981 1 0 0 1
GH-LCR, SCN4A 0 1 0 1
GNA11 0 1 0 1
GNA14 0 1 0 1
HPGD 1 0 0 1
INCENP 0 1 0 1
INPP5B 0 1 0 1
KRT1 1 0 0 1
MSH6 0 1 0 1
MYH3 0 1 0 1
NGLY1 0 1 0 1
NRAS 0 1 0 1
NRIP1 1 0 0 1
OCRL 0 1 0 1
PFKM 0 1 0 1
PIAS1 0 1 0 1
RBM48 0 1 0 1
RCOR1 0 1 0 1
RYR1 0 1 0 1
SLC3A1 0 1 0 1
SLC9A3R1 0 1 0 1
TG 0 1 0 1

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance total
Nephrocalcinosis; Nephrolithiasis 0 16 0 16
Rhabdomyolysis 0 9 0 9
Vascular Tumors Including Pyogenic Granuloma 0 5 2 7
Tyrosinase-positive oculocutaneous albinism 0 6 0 6
Familial adenomatous polyposis 1 5 0 0 5
Nephronophthisis 0 4 0 4
Nevus sebaceous 3 0 0 3
Dent disease 2 0 2 0 2
Denticles 0 2 0 2
Gaucher's disease, type 1 1 1 0 2
Kallmann syndrome 2 0 2 0 2
Knobloch syndrome 1 2 0 0 2
Nephrocalcinosis 0 2 0 2
Primary ciliary dyskinesia 0 2 0 2
Atypical hemolytic uremic syndrome 1 0 0 1
Autoimmune thyroid disease 3 0 1 0 1
Congenital anomalies of kidney and urinary tract 1 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 1 0 0 1
Deficiency of acetyl-CoA acetyltransferase 1 0 0 1
Dentinogenesis imperfecta 0 1 0 1
Erythroderma, ichthyosiform, congenital reticular 1 0 0 1
Hemolytic-uremic syndrome 1 0 0 1
Intellectual disability; Peripheral neuropathy; Neuromotor delay 0 1 0 1
Joubert syndrome 0 1 0 1
Kaposiform hemangioendothelioma; Congenital tufted angioma; Lobular capillary hemangioma 0 1 0 1
Lobular capillary hemangiomas 0 1 0 1
Nephrolithiasis; Hypophosphatemia 0 1 0 1
Pachydermoperiostosis syndrome 1 0 0 1
Portal hypertension, noncirrhotic 0 1 0 1

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