ClinVar Miner

Variants from Center for Human Genetics, Inc, 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: 105
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NF1 103 109 40 8 0 260
KMT2D 16 91 37 23 1 168
FBN1 32 34 27 27 0 120
NOTCH1 0 1 6 55 0 62
FBN2 2 2 9 40 0 53
FLNA 0 0 2 38 0 40
COL5A1 0 2 13 24 0 39
MYLK 0 0 10 26 0 36
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 21 0 31
COL3A1 2 2 12 14 0 30
PAX3 6 17 4 1 0 28
COL1A2 0 1 12 12 0 25
MYH11 0 0 6 19 0 25
MYH11, NDE1 0 1 8 17 0 25
TSC2 11 7 5 0 0 23
COL1A1 0 2 7 13 0 22
NSD1 3 5 6 5 1 20
MSH6 2 1 11 5 0 19
CHD7 5 6 5 1 1 18
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
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
LOC121740638, TFAP2A 5 4 0 0 0 9
MEN1 4 3 1 1 0 9
PTPN11 9 0 0 0 0 9
FGF10 1 6 1 0 0 8
MID1 5 3 0 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
LOC126863207, MID1 2 2 1 0 0 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
TFAP2A 1 3 0 0 0 4
ATRX 2 0 1 0 0 3
KDM6A 0 1 2 0 0 3
KMT2D, LOC126861520 0 2 1 0 0 3
LOC107303340, VHL 3 0 0 0 0 3
LOC111811965, MIR4733HG, NF1 1 2 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
SDHD 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
FBN2, LOC126807501 0 0 1 1 0 2
FGFR2 0 2 0 0 0 2
FRMPD4 0 0 0 2 0 2
HRAS, LRRC56 1 0 1 0 0 2
LOC126860794, NOTCH1 0 0 0 2 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
CHD7, LOC126860403 0 0 0 1 0 1
COL11A1, LOC126805814 0 0 0 1 0 1
COL1A1, LOC126862586 0 0 0 1 0 1
FBN1, LOC126862124 0 0 0 1 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
LOC126806529, PAX3 0 1 0 0 0 1
LOC126806791, MYLK 0 0 0 1 0 1
LOC126807619, NSD1 1 0 0 0 0 1
LOC126861339, SDHD 0 1 0 0 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
Familial thoracic aortic aneurysm and aortic dissection 2 1 10 12 0 25
Tuberous sclerosis 2 11 7 5 0 0 23
Sotos syndrome 4 5 6 5 1 21
CHARGE association 5 6 5 2 1 19
Lynch syndrome 5 2 1 11 5 0 19
Tuberous sclerosis 1 7 7 1 1 1 17
Colorectal cancer, hereditary nonpolyposis, type 2 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 multiple polyposis syndrome 7 3 3 1 0 14
Branchiooculofacial syndrome 6 7 0 0 0 13
X-linked Opitz G/BBB syndrome 7 5 1 0 0 13
Lynch syndrome 1 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
Developmental and epileptic encephalopathy, 9 1 1 1 2 0 5
Familial adenomatous polyposis 2 2 1 2 0 0 5
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 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 1 2 1 1 0 0 4
Alpha thalassemia-X-linked intellectual disability syndrome 2 0 1 0 0 3
Intellectual disability, autosomal dominant 5 1 0 1 1 0 3
Loeys-Dietz syndrome 4 1 1 0 0 1 3
Osteogenesis imperfecta type I 0 3 0 0 0 3
Paragangliomas 3 3 0 0 0 0 3
X-linked lymphoproliferative disease due to SH2D1A deficiency 1 2 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, 3, 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
Developmental and epileptic encephalopathy, 2 0 0 1 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
Long QT syndrome 3 1 0 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 2 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 0 0 1 0 0 1
Rienhoff syndrome 0 0 1 0 0 1
Spondyloepiphyseal dysplasia congenita 1 0 0 0 0 1
Stickler syndrome type 2 0 0 1 0 0 1
Tietz syndrome 1 0 0 0 0 1
Waardenburg syndrome type 3 0 1 0 0 0 1

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