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
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 #
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 syndrome
|
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 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 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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health behavior solely on the basis of information contained on
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