ClinVar Miner

Variants from ITMI

Location: United States — Primary collection method: reference population
Minimum submission review status: Collection method:
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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 not provided total
8 2 3 0 0 2688 2701

Gene and significance breakdown #

Total genes and gene combinations: 181
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
KMT2D 0 0 0 93 93
BRCA2 0 0 0 86 86
KMT2C 0 0 0 84 84
NOTCH1 1 0 0 66 67
TSC2 0 0 0 57 57
RECQL4 0 0 0 55 55
APC 0 0 0 50 50
BRCA1 0 0 0 46 46
FANCA 0 0 0 46 46
ATM 0 0 0 45 45
SETD2 0 0 0 45 45
WRN 0 0 0 44 44
BIVM-ERCC5, ERCC5 0 0 0 43 43
TET2 0 0 0 43 43
ERCC2 0 0 0 38 38
EP300 1 0 0 34 35
ECT2L 0 0 0 33 33
TNFRSF14 0 0 0 33 33
ERBB2 0 0 0 32 32
CIC 0 0 0 31 31
ERCC4 0 0 0 31 31
PMS2 0 0 0 31 31
CREBBP 0 0 0 30 30
MET 0 0 0 30 30
NOTCH2 0 0 0 30 30
XPC 0 0 0 30 30
ALK 0 0 0 29 29
BLM 0 0 0 29 29
HNF1A 0 0 0 29 29
ASXL1 0 0 0 27 27
GNAS 0 0 0 27 27
BRIP1 0 0 0 26 26
PDGFRA 0 0 0 26 26
JAK3 0 0 0 25 25
MPL 0 0 0 25 25
PTCH1 0 0 0 24 24
TSC1 0 0 0 24 24
CARD11 0 0 0 23 23
KDR 0 0 0 23 23
RET 0 0 0 23 23
PALB2 0 0 0 22 22
PMS1 0 0 0 22 22
ATRX 0 0 0 21 21
FLT3 0 0 0 21 21
MSH6 0 0 0 21 21
MUTYH 0 0 0 21 21
BCOR 0 0 0 20 20
BUB1B 0 0 0 20 20
CDH1 0 0 0 20 20
EGFR 0 0 0 20 20
IL7R 0 0 0 20 20
ABL1 0 0 0 19 19
AMER1 0 0 0 19 19
FGFR3 0 0 0 19 19
FLCN 0 0 0 19 19
MSH2 0 0 0 19 19
TNFAIP3 0 0 0 19 19
ARID2 0 0 0 18 18
PRDM1 0 0 0 18 18
ATM, C11orf65 0 0 0 17 17
CDK12 0 0 0 17 17
EXT2 0 0 0 17 17
MLH1 0 0 0 17 17
SMARCA4 0 0 0 17 17
CBLB 0 0 0 16 16
DICER1 0 0 0 16 16
FANCE 0 0 0 16 16
NF1 0 0 0 16 16
SMO 0 0 0 16 16
FANCA, ZNF276 0 0 0 15 15
INSL6, JAK2 0 0 0 15 15
NBN 0 0 0 15 15
TP53 0 0 0 14 14
ERCC3 0 0 0 13 13
FANCD2, LOC107303338 0 0 0 13 13
RB1 0 0 0 13 13
TSHR 0 0 0 13 13
CBL 0 0 0 12 12
CDKN2A 0 0 0 12 12
KIT 0 0 0 12 12
NFE2L2 0 0 0 12 12
ARID1A 0 0 0 11 11
FANCF 0 0 0 11 11
FANCG 0 0 0 11 11
CHEK2 0 0 0 10 10
EZH2 0 0 0 10 10
FGFR2 0 0 0 10 10
AOPEP, FANCC 0 0 0 9 9
JAK1 0 0 0 9 9
PAX5 0 0 0 9 9
SMARCB1 0 0 0 9 9
BCL6, LOC100131635 0 0 0 8 8
FANCC 0 0 0 8 8
FH 0 0 0 8 8
IDH1 0 0 0 8 8
KDM6A 0 0 0 8 8
PBRM1 0 0 0 8 8
SUFU 0 0 0 8 8
TENT5C 0 0 0 8 8
WAS 0 0 0 8 8
ARHGAP26 0 0 0 7 7
BAP1 0 0 0 7 7
CD79A 0 0 0 7 7
CYLD 0 0 0 7 7
FBXW7 0 0 0 7 7
FUBP1 0 0 0 7 7
KDM5C 0 0 0 7 7
NF2 0 0 0 7 7
XPA 0 0 0 7 7
EXT1 0 0 0 6 6
KLF6 0 0 0 6 6
MED12 0 0 0 6 6
SDHD 0 0 0 6 6
BMPR1A 0 0 0 5 5
CRLF2 0 0 0 5 5
DNM2 0 0 0 5 5
DNMT3A 0 0 0 5 5
FANCD2, FANCD2OS 0 0 0 5 5
FAS 0 0 0 5 5
FBXO11 0 0 0 5 5
GATA2 0 0 0 5 5
LOC100507346, PTCH1 0 0 0 5 5
PPP2R1A 0 0 0 5 5
PTPN11 0 0 0 5 5
SOCS1 0 0 0 5 5
WT1 0 0 0 5 5
​intergenic 0 0 0 4 4
BRAF 0 0 0 4 4
CTNNB1 0 0 0 4 4
DDB2 0 0 0 4 4
FANCG, VCP 0 0 0 4 4
GPC3 0 0 0 4 4
MEN1 0 0 0 4 4
MYD88 0 0 0 4 4
NPM1 0 0 0 4 4
SDHB 0 0 0 4 4
SMAD4 0 0 0 4 4
STK11 0 0 0 4 4
ZRSR2 0 0 0 4 4
AKT1 0 0 0 3 3
CD79B, GH-LCR 0 0 0 3 3
CDC73 0 0 0 3 3
CDK4 0 0 0 3 3
CEP128, TSHR 0 0 0 3 3
FIP1L1 0 0 0 3 3
GATA3 0 0 0 3 3
KRAS 0 0 0 3 3
PHOX2B 0 0 0 3 3
PIK3CA 0 0 0 3 3
SDHC 0 0 0 3 3
VHL 0 0 0 3 3
C12orf43, HNF1A 0 0 0 2 2
C9 0 2 0 0 2
CDK4, TSPAN31 0 0 0 2 2
FANCA, LOC112486223 0 0 0 2 2
FANCD2 0 0 0 2 2
GATA1 0 0 0 2 2
LOC107303340, VHL 0 0 0 2 2
PHF6 0 0 0 2 2
PIK3R1 0 0 0 2 2
XPO1 0 0 0 2 2
ABL1, LOC107980440 0 0 0 1 1
BCL6 0 0 0 1 1
BUB1B, BUB1B-PAK6 0 0 0 1 1
CDKL5 1 0 0 0 1
CDKN1C 1 0 0 0 1
CEBPA 0 0 0 1 1
EPCAM 1 0 0 0 1
FOXL2 0 0 0 1 1
GLRA1 1 0 0 0 1
GNA11 0 0 0 1 1
GSK3A 0 0 1 0 1
HRAS, LRRC56 0 0 0 1 1
HSD17B4 1 0 0 0 1
NEDD4L 0 0 1 0 1
NRAS 0 0 0 1 1
PLG 1 0 0 0 1
PRKAR1A 0 0 0 1 1
PTEN 0 0 0 1 1
SCN5A 0 0 1 0 1
SF3B1 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance not provided total
not specified 0 0 0 2688 2688
Primary dilated cardiomyopathy 0 0 3 0 3
Complement component 9 deficiency 0 2 0 0 2
Adams-Oliver syndrome 5 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 1 0 0 0 1
Diarrhea 5, with tufting enteropathy, congenital 1 0 0 0 1
Early infantile epileptic encephalopathy 2 1 0 0 0 1
Hereditary angioneurotic edema 1 0 0 0 1
Hyperekplexia hereditary 1 0 0 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 1 0 0 0 1
Rubinstein-Taybi syndrome 2 1 0 0 0 1

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