ClinVar Miner

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

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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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
99 44 50 5 0 198

Gene and significance breakdown #

Total genes and gene combinations: 93
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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
HIF1A 0 7 0 0 7
PCYT1A 6 0 0 0 6
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
KDM4C 0 0 3 0 3
NOD2 1 0 2 0 3
OCA2 1 1 1 0 3
RARS1 3 0 0 0 3
SLC26A4 2 1 0 0 3
VHL 0 3 0 0 3
BSND 0 0 2 0 2
CA12 0 0 2 0 2
CDKN2A 0 0 2 0 2
IDH1 0 2 0 0 2
IDH2 0 0 2 0 2
KMT2A 2 0 0 0 2
LBR 2 0 0 0 2
LOC107303340, VHL 0 2 0 0 2
LOC126806932, PCYT1A 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
USH2A 0 0 2 0 2
ACTG1 0 1 0 0 1
ASIC4, GMPPA 1 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HLX, IARS2, KCTD3, LYPLAL1, MARK1, MIR194-1, MIR215, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SPATA17, TGFB2, USH2A 1 0 0 0 1
CABP2 1 0 0 0 1
CHD7 0 0 1 0 1
CLDN9 0 0 1 0 1
COL2A1 1 0 0 0 1
COL6A1 1 0 0 0 1
CYP27A1 1 0 0 0 1
DDX41 1 0 0 0 1
DNAJB6 1 0 0 0 1
DNMT3B 0 0 1 0 1
ELP4, PAX6 1 0 0 0 1
EPRS1, ESRRG, GPATCH2, LYPLAL1, RRP15, SLC30A10, SPATA17, TGFB2 1 0 0 0 1
ERBB3 0 1 0 0 1
ESRRB 0 0 1 0 1
EXT2 1 0 0 0 1
FBN1 0 1 0 0 1
FGF3 1 0 0 0 1
FN1 1 0 0 0 1
GHR 1 0 0 0 1
GNAI2 0 0 1 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
JUP 0 0 1 0 1
KMT2B 0 0 1 0 1
KRAS 0 1 0 0 1
LOC126861898, MYH7 1 0 0 0 1
MBTPS1 1 0 0 0 1
MSRB3 1 0 0 0 1
MVP-DT, PRRT2 1 0 0 0 1
MYBPC3 0 1 0 0 1
MYH14 0 0 1 0 1
NCSTN 1 0 0 0 1
NFIX 1 0 0 0 1
NIPBL 0 0 1 0 1
OTOA 0 0 1 0 1
PGM1 1 0 0 0 1
PIEZO2 0 1 0 0 1
RAB23 0 0 1 0 1
RDX 1 0 0 0 1
RPS6KA3 0 1 0 0 1
SERPINF1 1 0 0 0 1
SIX1 0 1 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
VPS33B 1 0 0 0 1
VPS37A 1 0 0 0 1
ZBTB24 0 0 1 0 1
ZDBF2 0 0 1 0 1
ZNF407 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 81
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Kabuki syndrome 1 6 6 7 0 19
Enchondromatosis 0 9 4 0 13
Ascending tubular aorta aneurysm; Bicuspid aortic valve 0 11 1 0 12
Shprintzen-Goldberg syndrome 9 0 0 0 9
Maffucci syndrome 0 5 3 0 8
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 8 0 0 0 8
Loeys-Dietz syndrome 4 7 0 0 0 7
Arrhythmogenic right ventricular dysplasia 1 0 0 2 4 6
Familial isolated arrhythmogenic right ventricular dysplasia 6 0 0 0 6
TELO2-related intellectual disability-neurodevelopmental disorder 6 0 0 0 6
Alstrom syndrome 5 0 0 0 5
Autosomal recessive nonsyndromic hearing loss 9 3 1 1 0 5
Lateral meningocele syndrome 5 0 0 0 5
Schwannomatosis 2 2 0 2 0 4
Autosomal recessive nonsyndromic hearing loss 4 2 1 0 0 3
Hypomyelinating leukodystrophy 9 3 0 0 0 3
Inflammatory bowel disease 1 1 0 2 0 3
Tyrosinase-positive oculocutaneous albinism 1 1 1 0 3
Advanced sleep phase syndrome 1 1 0 1 0 2
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia 2 0 0 0 2
Autosomal dominant nonsyndromic hearing loss 11 0 0 2 0 2
Autosomal dominant nonsyndromic hearing loss 3A 0 1 0 1 2
Autosomal recessive nonsyndromic hearing loss 1A 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 1 0 1 0 2
Bartter disease type 4A 0 0 2 0 2
Combined oxidative phosphorylation defect type 13 2 0 0 0 2
Dilated cardiomyopathy 1DD 0 0 2 0 2
Greenberg dysplasia 2 0 0 0 2
Isolated hyperchlorhidrosis 0 0 2 0 2
Usher syndrome type 2A 0 0 2 0 2
Acne inversa, familial, 1 1 0 0 0 1
Acute myeloid leukemia; Myelodysplasia 1 0 0 0 1
Alacrima, achalasia, and intellectual disability syndrome 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 12 0 0 1 0 1
Arthrogryposis, renal dysfunction, and cholestasis 1 1 0 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 1 0 0 1
Au-Kline syndrome 1 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 24 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 35 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 74 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 93 1 0 0 0 1
Bailey-Bloch congenital myopathy 1 0 0 0 1
Branchiootic syndrome 3 0 1 0 0 1
CEDNIK syndrome 1 0 0 0 1
CHARGE association 0 0 1 0 1
Cholestanol storage disease 1 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 1
Coloboma of optic nerve 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 1 0 0 0 1
Dilated cardiomyopathy 1S 1 0 0 0 1
Erythroleukemia, familial, susceptibility to 0 1 0 0 1
Exostoses, multiple, type 2 1 0 0 0 1
Familial isolated pituitary adenoma 0 0 1 0 1
Gillespie syndrome 1 0 0 0 1
Idiopathic transverse myelitis 1 0 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 0 1
Laron-type isolated somatotropin defect 1 0 0 0 1
Left ventricular noncompaction 10 0 1 0 0 1
Linear nevus sebaceous syndrome 0 1 0 0 1
Malan overgrowth syndrome 1 0 0 0 1
Marfan syndrome 0 1 0 0 1
Microphthalmia, isolated, with coloboma 9 1 0 0 0 1
Nasopalpebral lipoma-coloboma syndrome 0 0 1 0 1
Nonsyndromic genetic hearing loss 0 0 1 0 1
Osteogenesis imperfecta type 6 1 0 0 0 1
PGM1-congenital disorder of glycosylation 1 0 0 0 1
RAB23-related Carpenter syndrome 0 0 1 0 1
Radioulnar synostosis-microcephaly-scoliosis syndrome 0 0 1 0 1
Schwannomatosis 1 0 0 1 0 1
Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1 1 0 0 0 1
Spondyloepiphyseal dysplasia, Stanescu type 1 0 0 0 1
Spondyloepiphyseal dysplasia, kondo-fu type 1 0 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 1 0 0 0 1
Tyrosinase-negative oculocutaneous albinism 0 0 1 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 0 1

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