ClinVar Miner

Variants from Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University

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
91 24 35 5 0 155

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 total
KMT2D 4 6 3 0 13
ROBO4 0 11 1 0 12
SKI 9 0 0 0 9
PCYT1A 8 0 0 0 8
PLEC 0 0 2 4 6
SCN5A 6 0 0 0 6
TELO2 6 0 0 0 6
TGFB2 6 0 0 0 6
ALMS1 5 0 0 0 5
NOTCH3 5 0 0 0 5
GJB2 1 2 0 1 4
LZTR1 2 0 2 0 4
OTOF 2 1 1 0 4
NOD2 1 0 2 0 3
OCA2 1 1 1 0 3
RARS1 3 0 0 0 3
SLC26A4 2 1 0 0 3
BSND 0 0 2 0 2
KMT2A 2 0 0 0 2
LBR 2 0 0 0 2
MYO7A 0 0 2 0 2
PER2 1 0 1 0 2
PNPT1 2 0 0 0 2
RBM20 0 0 2 0 2
TMC1 1 0 1 0 2
ACTG1 0 1 0 0 1
BPNT1, C1orf115, DUSP10, EPRS, ESRRG, GPATCH2, HLX, IARS2, KCTD3, LYPLAL1, MARC1, MARC2, MARK1, MIR194-1, MIR215, RAB3GAP2, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 1
CABP2 1 0 0 0 1
CHD7 0 0 1 0 1
COL2A1 1 0 0 0 1
CYP27A1 1 0 0 0 1
DDX41 1 0 0 0 1
DNMT3B 0 0 1 0 1
ELP4, PAX6 1 0 0 0 1
EPRS, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 1
ERBB3 0 1 0 0 1
ESRRB 0 0 1 0 1
FGF3 1 0 0 0 1
FN1 1 0 0 0 1
GMPPA 1 0 0 0 1
HCFC1 0 0 1 0 1
HNRNPK 1 0 0 0 1
IGSF6, METTL9, OTOA 1 0 0 0 1
ITPR1 1 0 0 0 1
KMT2B 0 0 1 0 1
MSRB3 1 0 0 0 1
MYH14 0 0 1 0 1
NCSTN 1 0 0 0 1
NIPBL 0 0 1 0 1
OTOA 0 0 1 0 1
PRRT2 1 0 0 0 1
RAB23 0 0 1 0 1
RDX 1 0 0 0 1
SERPINF1 1 0 0 0 1
SMARCB1 0 0 1 0 1
SMC3 0 0 1 0 1
SNAP29 1 0 0 0 1
STAC3 1 0 0 0 1
TAF1 0 0 1 0 1
TENM3 1 0 0 0 1
TYR 0 0 1 0 1
VPS37A 1 0 0 0 1
ZBTB24 0 0 1 0 1
ZDBF2 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 57
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Kabuki syndrome 1 6 6 7 0 19
Dilatation of ascending aorta; Bicuspid aortic valve 0 11 1 0 12
Shprintzen-Goldberg syndrome 9 0 0 0 9
Loeys-Dietz syndrome 4 8 0 0 0 8
Spondylometaphyseal dysplasia with cone-rod dystrophy 8 0 0 0 8
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 2 4 6
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 6 0 0 0 6
You-Hoover-Fong syndrome 6 0 0 0 6
Alstrom syndrome 5 0 0 0 5
Deafness, autosomal recessive 9 3 1 1 0 5
Lehman syndrome 5 0 0 0 5
Schwannomatosis 2 2 0 2 0 4
Enlarged vestibular aqueduct 2 1 0 0 3
Inflammatory bowel disease 1 1 0 2 0 3
Leukodystrophy, hypomyelinating, 9 3 0 0 0 3
Tyrosinase-positive oculocutaneous albinism 1 1 1 0 3
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia 2 0 0 0 2
Bartter syndrome type 4 0 0 2 0 2
Combined oxidative phosphorylation deficiency 13 2 0 0 0 2
Deafness, autosomal dominant 11 0 0 2 0 2
Deafness, autosomal dominant 3a 0 1 0 1 2
Deafness, autosomal recessive 1A 1 1 0 0 2
Deafness, autosomal recessive 7 1 0 1 0 2
Dilated cardiomyopathy 1DD 0 0 2 0 2
Familial advanced sleep phase syndrome 1 1 0 1 0 2
AU-KLINE SYNDROME 1 0 0 0 1
Acute myeloid leukemia, M6 type 0 1 0 0 1
Acute myeloid leukemia; Myelodysplasia 1 0 0 0 1
Alacrima, achalasia, and mental retardation syndrome 1 0 0 0 1
CHARGE association 0 0 1 0 1
Carpenter syndrome 1 0 0 1 0 1
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 1 0 0 0 1
Cholestanol storage disease 1 0 0 0 1
Coloboma of optic disc 1 0 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Cornelia de Lange syndrome 3 0 0 1 0 1
Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 1 0 0 0 1
Deafness, autosomal dominant 20 0 1 0 0 1
Deafness, autosomal dominant 4 0 0 1 0 1
Deafness, autosomal recessive 22 0 0 1 0 1
Deafness, autosomal recessive 24 1 0 0 0 1
Deafness, autosomal recessive 35 0 0 1 0 1
Deafness, autosomal recessive 74 1 0 0 0 1
Deafness, autosomal recessive 93 1 0 0 0 1
Familial acne inversa 1 1 0 0 0 1
Gillespie syndrome 1 0 0 0 1
Idiopathic transverse myelitis 1 0 0 0 1
Mental retardation, X-linked, syndromic 33 0 0 1 0 1
Microphthalmia, isolated, with coloboma 9 1 0 0 0 1
Nasopalpebral lipoma coloboma syndrome 0 0 1 0 1
Native American myopathy 1 0 0 0 1
Osteogenesis imperfecta, type VI 1 0 0 0 1
Schwannomatosis 1 0 0 1 0 1
Seizures, benign familial infantile, 2; Dystonia 10 1 0 0 0 1
Spondyloepiphyseal dysplasia, stanescu type 1 0 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 1 0 0 0 1
Tyrosinase-negative oculocutaneous albinism 0 0 1 0 1

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