ClinVar Miner

Variants from Center for Human Genetics, Inc

Location: United States — Primary collection method: clinical testing
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
324 393 338 489 8 1551

Gene and significance breakdown #

Total genes and gene combinations: 92
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 103 110 40 8 0 261
KMT2D 16 93 38 23 1 171
FBN1 32 34 27 28 0 121
NOTCH1 0 1 6 57 0 64
FBN2 2 2 10 41 0 55
FLNA 0 0 2 38 0 40
COL5A1 0 2 13 24 0 39
MYLK 0 0 10 27 0 37
COL2A1 5 5 6 19 0 35
COL5A2 0 1 12 22 0 35
COL11A2 0 0 5 28 0 33
COL11A1 0 1 9 22 0 32
COL3A1 2 2 12 14 0 30
PAX3 6 18 4 1 0 29
COL1A2 0 1 12 12 0 25
MYH11 0 0 6 19 0 25
MYH11, NDE1 0 1 8 17 0 25
COL1A1 0 2 7 14 0 23
TSC2 11 7 5 0 0 23
NSD1 4 5 6 5 1 21
CHD7 5 6 5 2 1 19
MSH6 2 1 11 5 0 19
TSC1 7 7 1 1 1 17
MLH1 3 3 7 2 1 16
POLR2F, SOX10 2 12 2 0 0 16
APC 7 3 3 1 0 14
MID1 7 5 1 0 0 13
TFAP2A 6 7 0 0 0 13
MECP2 7 2 1 2 0 12
MSH2 1 0 10 1 0 12
NF2 6 6 0 0 0 12
PRKG1 0 0 3 9 0 12
TGFBR2 1 0 5 5 0 11
MITF 2 4 3 1 0 10
SDHB 8 1 1 0 0 10
SPRED1 6 3 1 0 0 10
TGFBR1 1 1 4 4 0 10
TGFBR3 0 0 2 8 0 10
MEN1 4 3 1 1 0 9
PTPN11 9 0 0 0 0 9
FGF10 1 6 1 0 0 8
RPS6KA3 3 3 2 0 0 8
ZEB2 1 4 0 3 0 8
CDKL5 1 4 1 1 0 7
ACTA2 1 0 1 4 0 6
EDNRB 3 1 1 1 0 6
FGD1 1 2 3 0 0 6
PTEN 2 3 1 0 0 6
SMAD3 2 0 1 3 0 6
TGFB2 1 1 0 3 1 6
ACTG2 3 1 1 0 0 5
BRAF 2 1 1 0 1 5
MUTYH 2 1 2 0 0 5
PCDH19 1 1 1 2 0 5
RET 3 0 2 0 0 5
SPINK1 4 0 0 1 0 5
TCF4 1 4 0 0 0 5
COL5A1, LOC101448202 0 0 2 2 0 4
FOXG1 0 1 3 0 0 4
SDHD 3 1 0 0 0 4
ATRX 2 0 1 0 0 3
KDM6A 0 1 2 0 0 3
LOC107303340, VHL 3 0 0 0 0 3
NTM 0 0 0 3 0 3
PRSS1, TRB 3 0 0 0 0 3
SDHC 3 0 0 0 0 3
SH2D1A 1 2 0 0 0 3
SYNGAP1 1 0 1 1 0 3
VHL 3 0 0 0 0 3
ACSL4 0 0 2 0 0 2
ATM 1 1 0 0 0 2
CTRC 0 0 2 0 0 2
EDN3 1 1 0 0 0 2
FBN1, LOC113939944 1 0 1 0 0 2
FGFR2 0 2 0 0 0 2
FRMPD4 0 0 0 2 0 2
HRAS, LRRC56 1 0 1 0 0 2
LOC111811965, NF1 1 1 0 0 0 2
ATM, C11orf65 0 1 0 0 0 1
CDKL5, RS1 0 0 0 0 1 1
CDKN2A 1 0 0 0 0 1
FGD1, TSR2 0 1 0 0 0 1
FLNA, LOC107988032 0 0 0 1 0 1
KRAS 0 0 0 1 0 1
LOX, SRFBP1 0 0 1 0 0 1
MFAP5 0 0 1 0 0 1
PLP1, RAB9B 0 0 1 0 0 1
PQBP1 0 0 1 0 0 1
RAF1 0 0 1 0 0 1
SCN5A 1 0 0 0 0 1
SOS1 1 0 0 0 0 1
TGFB3 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 74
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Connective tissue disorder 3 5 112 390 0 510
Neurofibromatosis, type 1 104 111 40 8 0 263
Kabuki syndrome 1 16 94 40 23 1 174
Marfan syndrome 33 34 23 17 0 107
Waardenburg syndrome type 1 6 17 4 1 0 28
Thoracic aortic aneurysm and aortic dissection 2 1 10 12 0 25
Tuberous sclerosis 2 11 7 5 0 0 23
Sotos syndrome 1 4 5 6 5 1 21
CHARGE association 5 6 5 2 1 19
Hereditary nonpolyposis colorectal cancer type 5 2 1 11 5 0 19
Tuberous sclerosis 1 7 7 1 1 1 17
Lynch syndrome II 3 3 7 2 1 16
Waardenburg syndrome type 4C 2 12 2 0 0 16
Ehlers-Danlos syndrome, type 4 2 2 7 3 0 14
Familial adenomatous polyposis 7 3 3 1 0 14
Branchiooculofacial syndrome 6 7 0 0 0 13
Opitz-Frias syndrome 7 5 1 0 0 13
Lynch syndrome I 1 0 10 1 0 12
Neurofibromatosis, type 2 6 6 0 0 0 12
Rett syndrome 7 2 1 2 0 12
Ehlers-Danlos syndrome, classic type 0 1 5 5 0 11
Hereditary pancreatitis 7 0 2 1 0 10
Legius syndrome 6 3 1 0 0 10
Levy-Hollister syndrome 1 8 1 0 0 10
Paragangliomas 4 8 1 1 0 0 10
Multiple endocrine neoplasia, type 1 4 3 1 1 0 9
Noonan syndrome 1 8 0 1 0 0 9
Stickler syndrome type 1 4 4 1 0 0 9
Waardenburg syndrome type 2A 1 4 3 1 0 9
Coffin-Lowry syndrome 3 3 2 0 0 8
Mowat-Wilson syndrome 1 4 0 3 0 8
Aarskog syndrome 1 3 3 0 0 7
Congenital contractural arachnodactyly 2 2 2 1 0 7
Aortic aneurysm, familial thoracic 4 0 0 5 1 0 6
Cowden syndrome 1 2 3 1 0 0 6
Von Hippel-Lindau syndrome 6 0 0 0 0 6
Waardenburg syndrome type 4A 3 1 1 1 0 6
West syndrome 0 4 0 1 1 6
Cardiofaciocutaneous syndrome 1 2 1 1 0 1 5
Early infantile epileptic encephalopathy 9 1 1 1 2 0 5
MYH-associated polyposis 2 1 2 0 0 5
Multiple endocrine neoplasia, type 2a 3 0 2 0 0 5
Pitt-Hopkins syndrome 1 4 0 0 0 5
Paragangliomas 1 3 1 0 0 0 4
Rett syndrome, congenital variant 0 1 3 0 0 4
Visceral myopathy 2 1 1 0 0 4
ATR-X syndrome 2 0 1 0 0 3
Loeys-Dietz syndrome 4 1 1 0 0 1 3
Lymphoproliferative syndrome 1, X-linked 1 2 0 0 0 3
Mental retardation, autosomal dominant 5 1 0 1 1 0 3
Osteogenesis imperfecta type I 0 3 0 0 0 3
Paragangliomas 3 3 0 0 0 0 3
Autism, susceptibility to, X-linked 4 0 0 0 2 0 2
Costello syndrome 1 0 1 0 0 2
Familial cancer of breast 1 1 0 0 0 2
Non-syndromic X-linked intellectual disability 0 0 2 0 0 2
Visceral neuropathy, familial, autosomal dominant 2 0 0 0 0 2
Waardenburg syndrome type 4B 1 1 0 0 0 2
Ataxia-telangiectasia syndrome 0 1 0 0 0 1
Atypical Rett syndrome 1 0 0 0 0 1
Chronic intestinal pseudoobstruction 0 1 0 0 0 1
Cutaneous malignant melanoma 2 1 0 0 0 0 1
Early infantile epileptic encephalopathy 2 0 0 1 0 0 1
Klein-Waardenberg's syndrome 0 1 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
Loeys-Dietz syndrome 5 0 0 1 0 0 1
Long QT syndrome 3 1 0 0 0 0 1
Noonan syndrome 3 0 0 0 1 0 1
Noonan syndrome 4 1 0 0 0 0 1
Pelizaeus-Merzbacher disease 0 0 1 0 0 1
Renpenning syndrome 1 0 0 1 0 0 1
Spondyloepiphyseal dysplasia 1 0 0 0 0 1
Stickler syndrome, type 2 0 0 1 0 0 1
Tietz syndrome 1 0 0 0 0 1

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