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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 11 103060427 103060427 C > T DYNC2H1 DYNC2H1 NM_001377.2:c.7319C>T
NM_001080463.1:c.7319C>T
NP_001368.2:p.Thr2440Met
NP_001073932.1:p.Thr2440Met
17/6913 0.00123 4 non_synonymous Likely Benign
View 11 108098576 108098576 C > G ATM ENST00000278616.4:c.146C>G
ENSP00000278616.4:p.Ser49Cys
143/6913 0.01034 4 Likely Benign
View 11 108143299 108143299 A > G ATM ENST00000278616.4:c.3118A>G
ENSP00000278616.4:p.Met1040Val
53/6913 0.00405 4 non_synonymous Likely Benign
View 11 108150316 108150316 A > G ATM ENST00000278616.4:c.3383A>G
ENSP00000278616.4:p.Gln1128Arg
24/6913 0.00174 4 Likely Benign
View 11 108198391 108198391 T > C ATM ENST00000278616.4:c.6995T>C
ENSP00000278616.4:p.Leu2332Pro
18/6913 0.0013 4 Likely Benign
View 11 111680496 111680496 A > C ALG9 ALG9 ALG9 ALG9 NM_024740.2:c.1605T>G
NM_001077691.1:c.1091T>G
NM_001077692.1:c.1070T>G
NM_001077690.1:c.1584T>G
NP_079016.2:p.Tyr535Ter
NP_001071159.1:p.Ile364Ser
NP_001071160.1:p.Ile357Ser
NP_001071158.1:p.Tyr528Ter
15/6913 0.00116 4 premature_stop Likely Benign
View 11 111724397 111724397 G > A ALG9 ALG9 ALG9 ALG9 NM_024740.2:c.765C>T
NM_001077691.1:c.251C>T
NM_001077692.1:c.251C>T
NM_001077690.1:c.765C>T
NM_024740.2:c.765C>T(p.=)
NP_001071159.1:p.Ser84Leu
NP_001071160.1:p.Ser84Leu
NM_001077690.1:c.765C>T(p.=)
62/6913 0.00456 4 non_synonymous Likely Benign
View 11 117267892 117267892 C > T CEP164 CEP164 NM_014956.4:c.3364C>T
NM_001271933.1:c.3373C>T
NP_055771.4:p.Arg1122Cys
NP_001258862.1:p.Arg1125Cys
4/5119 0.00039 4 non_synonymous Likely Benign
View 11 118307316 118307316 C > G KMT2A KMT2A NM_001197104.1:c.89C>G
NM_005933.3:c.89C>G
NP_001184033.1:p.Ala30Gly
NP_005924.2:p.Ala30Gly
98/5119 0.00987 4 non_synonymous Likely Benign
View 11 118307385 118307385 C > T KMT2A KMT2A NM_001197104.1:c.158C>T
NM_005933.3:c.158C>T
NP_001184033.1:p.Ala53Val
NP_005924.2:p.Ala53Val
75/5119 0.00801 4 non_synonymous Likely Benign
View 11 118375998 118375998 G > A KMT2A KMT2A NM_001197104.1:c.9391G>A
NM_005933.3:c.9382G>A
NP_001184033.1:p.Gly3131Ser
NP_005924.2:p.Gly3128Ser
3/5119 0.00029 4 non_synonymous Likely Benign
View 11 118377081 118377081 G > A KMT2A KMT2A NM_001197104.1:c.10474G>A
NM_005933.3:c.10465G>A
NP_001184033.1:p.Ala3492Thr
NP_005924.2:p.Ala3489Thr
2/5119 0.0002 4 non_synonymous Likely Benign
View 11 118530166 118530166 A > G TREH ENST00000264029.4:c.1345T>C
ENSP00000264029.4:p.Tyr449His
25/5119 0.00254 4 non_synonymous Likely Benign
View 11 118533594 118533594 T > C TREH ENST00000264029.4:c.419A>G
ENSP00000264029.4:p.Lys140Arg
54/5119 0.00527 4 non_synonymous Likely Benign
View 11 118895635 118895635 G > A SLC37A4 SLC37A4 SLC37A4 SLC37A4 SLC37A4 ENST00000538950.1:c.1056C>T
NM_001164280.1:c.1276C>T
ENST00000330775.7:c.1338C>T
ENST00000545985.1:c.1275C>T
ENST00000357590.5:c.1341C>T
ENST00000538950.1:c.1056C>T(p.=)
NP_001157752.1:p.Gln426Ter
ENST00000330775.7:c.1338C>T(p.=)
ENST00000545985.1:c.1275C>T(p.=)
ENST00000357590.5:c.1341C>T(p.=)
44/6913 0.00318 4 premature_stop Likely Benign
View 11 118955883 118955895 TTTTTTTTTTTTT > - HMBS HMBS HMBS NM_000190.3:c.33+123_33+135del
NM_001258209.1:c.-19+32_-19+44del
NM_001258208.1:c.33+123_33+135del
72/5102 0.00784 4 five_prime_intronic Likely Benign
View 11 119077232 119077233 - > CAC CBL NM_005188.3:c.125_127dupACC
NP_005179.2:p.His42dup
15/5119 0.00147 4 in_frame_indel Likely Benign
View 11 119158665 119158665 G > T CBL NM_005188.3:c.2036+9G>T
6/5119 0.00059 4 five_prime_intronic Likely Benign
View 11 119169085 119169085 G > A CBL NM_005188.3:c.2269G>A
NP_005179.2:p.Ala757Thr
19/5119 0.00186 4 non_synonymous Likely Benign
View 11 119545884 119545884 C > T NECTIN1 NECTIN1 NECTIN1 NM_002855.4:c.988G>A
NM_203285.1:c.988G>A
NM_203286.1:c.988G>A
NP_002846.3:p.Glu330Lys
NP_976030.1:p.Glu330Lys
NP_976031.1:p.Glu330Lys
14/5119 0.00137 4 non_synonymous Likely Benign
View 11 125871721 125871721 G > C CDON CDON NM_001243597.1:c.2051C>G
NM_016952.4:c.2051C>G
NP_001230526.1:p.Thr684Ser
NP_058648.4:p.Thr684Ser
52/5119 0.00508 4 Likely Benign
View 11 126213242 126213242 G > A DCPS ST3GAL4-AS1 NM_014026.3:c.677G>A
NR_033839.1:n.147-1025C>T
NP_054745.1:p.Gly226Asp
44/5119 0.0043 4 non_synonymous Likely Benign
View 12 4409090 4409090 G > A CCND2 NM_001759.3:c.785G>A
NP_001750.1:p.Arg262His
6/5119 0.00059 3 non_synonymous Likely Benign
View 12 6061675 6061675 G > A VWF NM_000552.3:c.7997C>T
NP_000543.2:p.Thr2666Met
61/5119 0.00596 4 Common dbSNP MAF original cat: TYPE_3 - non_synonymous Likely Benign
View 12 7080124 7080124 G > T EMG1 NM_006331.7:c.38G>T
NP_006322.4:p.Arg13Leu
21/5119 0.00215 4 non_synonymous Likely Benign
View 12 8975873 8975873 C > G A2ML1 NM_144670.4:c.158C>G
NP_653271.2:p.Thr53Arg
27/5101 0.00265 4 non_synonymous Likely Benign
View 12 8982384 8982386 GGA > - A2ML1 NM_144670.4:c.462+16_462+18del
10/5101 0.00098 4 five_prime_intronic Likely Benign
View 12 9085651 9085651 G > A PHC1 NM_004426.2:c.1598G>A
NP_004417.2:p.Arg533Gln
2/5119 0.0002 4 non_synonymous Likely Benign
View 12 12871860 12871860 C > T CDKN1B NM_004064.3:c.577C>T
NP_004055.1:p.Leu193Phe
8/5119 0.00078 4 non_synonymous Likely Benign
View 12 14814012 14814012 C > A GUCY2C NM_004963.3:c.1283-16G>T
12/5101 0.00118 4 three_prime_flank Likely Benign
View 12 20968683 20968683 A > G SLCO1B3 ENST00000381545.3:c.11A>G
ENSP00000370956.3:p.His4Arg
18/5400 0.00167 4 non_synonymous Likely Benign
View 12 31255197 31255197 C > G DDX11 DDX11 DDX11 DDX11 DDX11 NM_004399.2:c.2073C>G
NM_001257145.1:c.2145C>G
NM_030653.3:c.2223C>G
NM_001257144.1:c.2223C>G
NM_152438.1:c.2223C>G
NP_004390.3:p.Ser691Arg
NP_001244074.1:p.Ser715Arg
NP_085911.2:p.Ser741Arg
NP_001244073.1:p.Ser741Arg
NP_689651.1:p.Ser741Arg
32/5119 0.00313 4 non_synonymous Likely Benign
View 12 32994058 32994058 A > C PKP2 PKP2 NM_001005242.2:c.1460T>G
NM_004572.3:c.1592T>G
NP_001005242.2:p.Ile487Ser
NP_004563.2:p.Ile531Ser
20/5119 0.00195 4 Likely Benign
View 12 33049590 33049590 C > T PKP2 PKP2 NM_001005242.2:c.76G>A
NM_004572.3:c.76G>A
NP_001005242.2:p.Asp26Asn
NP_004563.2:p.Asp26Asn
99/5119 0.01006 4 Likely Benign
View 12 48371397 48371397 C > T COL2A1 COL2A1 NM_001844.4:c.3151G>A
NM_033150.2:c.2944G>A
NP_001835.3:p.Ala1051Thr
NP_149162.2:p.Ala982Thr
14/5120 0.00137 4 non_synonymous Likely Benign
View 12 49425430 49425430 G > A KMT2D NM_003482.3:c.13058C>T
NP_003473.3:p.Pro4353Leu
1/5119 0.0001 4 Likely Benign
View 12 49425443 49425443 G > C KMT2D NM_003482.3:c.13045C>G
NP_003473.3:p.Pro4349Ala
7/5119 0.00068 4 non_synonymous Likely Benign
View 12 49425575 49425575 C > T KMT2D NM_003482.3:c.12913G>A
NP_003473.3:p.Val4305Ile
25/5119 0.00244 4 non_synonymous Likely Benign
View 12 49427495 49427495 G > C KMT2D NM_003482.3:c.10993C>G
NP_003473.3:p.Pro3665Ala
15/5119 0.00147 4 non_synonymous Likely Benign
View 12 49428694 49428694 T > C KMT2D NM_003482.3:c.10256A>G
NP_003473.3:p.Asp3419Gly
25/5119 0.00244 4 non_synonymous Likely Benign
View 12 49443799 49443799 G > A KMT2D NM_003482.3:c.3572C>T
NP_003473.3:p.Pro1191Leu
10/5119 0.00098 4 Likely Benign
View 12 49444253 49444253 A > G KMT2D NM_003482.3:c.3118T>C
NP_003473.3:p.Ser1040Pro
2/5119 0.0002 4 non_synonymous Likely Benign
View 12 49446344 49446344 C > T KMT2D NM_003482.3:c.1258+3G>A
3/5119 0.00029 4 five_prime_flank Likely Benign
View 12 51068409 51068409 G > A DIP2B NM_173602.2:c.793G>A
NP_775873.2:p.Asp265Asn
88/5119 0.00869 4 non_synonymous Likely Benign
View 12 52711549 52711549 G > T KRT83 NM_002282.3:c.666C>A
NP_002273.3:p.Cys222Ter
83/5119 0.00811 4 premature_stop Likely Benign
View 12 52908863 52908863 G > T KRT5 NM_000424.3:c.1636C>A
NP_000415.2:p.Leu546Ile
11/5119 0.00107 4 Likely Benign
View 12 52912869 52912869 C > T KRT5 NM_000424.3:c.631G>A
NP_000415.2:p.Val211Met
31/5119 0.00303 4 non_synonymous Likely Benign
View 12 56090811 56090811 G > A ITGA7 ITGA7 ITGA7 NM_001144997.1:c.1330C>T
NM_002206.2:c.1609C>T
NM_001144996.1:c.1621C>T
NP_001138469.1:p.Arg444Trp
NP_002197.2:p.Arg537Trp
NP_001138468.1:p.Arg541Trp
16/5119 0.00156 4 non_synonymous Likely Benign
View 12 56091709 56091709 C > T ITGA7 ITGA7 ITGA7 NM_001144996.1:c.1293+13G>A
NM_002206.2:c.1281+13G>A
NM_001144997.1:c.1002+13G>A
18/5101 0.00186 4 five_prime_intronic Likely Benign
View 12 56094894 56094894 G > C ITGA7 ITGA7 ITGA7 NM_001144996.1:c.459C>G
NM_001144997.1:c.168C>G
NM_002206.2:c.459C>G
NP_001138468.1:p.Ile153Met
NP_001138469.1:p.Ile56Met
NP_002197.2:p.Ile153Met
18/5120 0.00186 4 non_synonymous Likely Benign
Displaying 200 through 250 of 1,587 variants