Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 11 67763325 67763325 G > C UNC93B1 ENST00000227471.2:c.1117C>G
ENSP00000227471.2:p.Arg373Gly
13/11422 0.00057 3 non_synonymous Uncertain Significance
View 11 67800683 67800683 G > A NDUFS8 NM_002496.3:c.305G>A
NP_002487.1:p.Arg102His
4/11422 0.00018 3 Uncertain Significance
View 11 67803807 67803807 G > A NDUFS8 NM_002496.3:c.460G>A
NP_002487.1:p.Gly154Ser
2/11422 9.0e-05 3 Uncertain Significance
View 11 67814983 67814983 G > A TCIRG1 TCIRG1 ENST00000265686.3:c.1249G>A
ENST00000532635.1:c.601G>A
ENSP00000265686.3:p.Ala417Thr
ENSP00000434407.1:p.Ala201Thr
99/11422 0.00433 3 Uncertain Significance
View 11 68566781 68566781 T > C CPT1A CPT1A ENST00000265641.5:c.598A>G
ENST00000376618.2:c.598A>G
ENSP00000265641.4:p.Lys200Glu
ENSP00000365803.2:p.Lys200Glu
1/11422 4.0e-05 3 non_synonymous Uncertain Significance
View 11 68566822 68566822 T > C CPT1A CPT1A ENST00000265641.5:c.557A>G
ENST00000376618.2:c.557A>G
ENSP00000265641.4:p.Tyr186Cys
ENSP00000365803.2:p.Tyr186Cys
3/11422 0.00013 3 non_synonymous Uncertain Significance
View 11 68675796 68675796 G > A IGHMBP2 NM_002180.2:c.440G>A
NP_002171.2:p.Arg147Gln
4/11422 0.00018 3 non_synonymous Uncertain Significance
View 11 68678898 68678898 T > G IGHMBP2 NM_002180.2:c.548-10T>G
25/11422 0.00109 3 polypyrimidine_tract Uncertain Significance
View 11 68703821 68703821 A > G IGHMBP2 NM_002180.2:c.1873A>G
NP_002171.2:p.Thr625Ala
2/11422 9.0e-05 3 non_synonymous Uncertain Significance
View 11 68704308 68704308 C > T IGHMBP2 NM_002180.2:c.2360C>T
NP_002171.2:p.Pro787Leu
15/11422 0.00066 3 non_synonymous Uncertain Significance
View 11 71146501 71146501 G > A DHCR7 DHCR7 NM_001163817.1:c.1348C>T
NM_001360.2:c.1348C>T
NP_001157289.1:p.Arg450Cys
NP_001351.2:p.Arg450Cys
3/11422 0.00013 3 non_synonymous Uncertain Significance
View 11 71150037 71150037 T > C DHCR7 DHCR7 NM_001163817.1:c.719A>G
NM_001360.2:c.719A>G
NP_001157289.1:p.Asn240Ser
NP_001351.2:p.Asn240Ser
6/11422 0.00031 3 Uncertain Significance
View 11 71906793 71906793 T > C FOLR1 FOLR1 FOLR1 FOLR1 NM_016724.2:c.493+2T>C
NM_016725.2:c.493+2T>C
NM_016729.2:c.493+2T>C
NM_000802.3:c.493+2T>C
57/11422 0.00254 1 Uncertain Significance
View 11 73849756 73849756 C > G C2CD3 NM_015531.4:c.955+9G>C
3/9594 0.00016 3 five_prime_intronic Uncertain Significance
View 11 76868046 76868046 G > A MYO7A MYO7A MYO7A NM_000260.3:c.731G>A
NM_001127179.2:c.731G>A
NM_001127180.1:c.731G>A
NP_000251.3:p.Arg244His
NP_001120651.2:p.Arg244His
NP_001120652.1:p.Arg244His
5/11422 0.00022 1 Uncertain Significance
View 11 76901123 76901123 G > A MYO7A MYO7A NM_000260.3:c.3689G>A
NM_001127180.1:c.3689G>A
NP_000251.3:p.Arg1230His
NP_001120652.1:p.Arg1230His
7/11422 0.00031 3 Uncertain Significance
View 11 76903237 76903237 A > T MYO7A MYO7A NM_000260.3:c.4066A>T
NM_001127180.1:c.4066A>T
NP_000251.3:p.Ser1356Cys
NP_001120652.1:p.Ser1356Cys
3/11422 0.00013 3 non_synonymous Uncertain Significance
View 11 76922381 76922381 G > A MYO7A MYO7A NM_000260.3:c.6236G>A
NM_001127180.1:c.6122G>A
NP_000251.3:p.Arg2079Gln
NP_001120652.1:p.Arg2041Gln
9/11422 0.00039 3 non_synonymous Uncertain Significance
View 11 78180283 78180283 A > G NARS2 NARS2 NM_024678.5:c.1026+10T>C
NM_001243251.1:c.345+10T>C
5/9594 0.00026 3 five_prime_intronic Uncertain Significance
View 11 78277185 78277185 A > T NARS2 NARS2 NM_024678.5:c.506T>A
NM_001243251.1:c.-176T>A
NP_078954.4:p.Phe169Tyr
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 11 78285487 78285487 G > A NARS2 NARS2 NM_024678.5:c.47C>T
NM_001243251.1:c.-541+387C>T
NP_078954.4:p.Ser16Phe
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 11 85366671 85366671 G > A TMEM126A TMEM126A NM_001244735.1:c.104G>A
NM_032273.3:c.314G>A
NP_001231664.1:p.Arg35Gln
NP_115649.1:p.Arg105Gln
75/9594 0.00391 3 non_synonymous Uncertain Significance
View 11 89017961 89017961 G > A TYR NM_000372.4:c.1205G>A
NP_000363.1:p.Arg402Gln
3743/9598 0.22479 1 Uncertain Significance
View 11 103153798 103153798 C > T DYNC2H1 DYNC2H1 NM_001080463.1:c.10895C>T
NM_001377.2:c.10874C>T
NP_001073932.1:p.Ala3632Val
NP_001368.2:p.Ala3625Val
2/11422 9.0e-05 3 non_synonymous Uncertain Significance
View 11 105623840 105623840 G > C GRIA4 GRIA4 GRIA4 GRIA4 GRIA4 ENST00000393127.2:c.381G>C
NR_046356.1:n.695G>C
ENST00000282499.5:c.381G>C
NM_001112812.1:c.381G>C
NM_001077244.1:c.381G>C
ENSP00000376835.2:p.Glu127Asp
ENSP00000282499.5:p.Glu127Asp
NP_001106283.1:p.Glu127Asp
NP_001070712.1:p.Glu127Asp
2/9555 0.0001 3 non_synonymous Uncertain Significance
View 11 105795309 105795309 C > T GRIA4 GRIA4 GRIA4 ENST00000393127.2:c.1661C>T
NR_046356.1:n.1975C>T
ENST00000282499.5:c.1661C>T
ENSP00000376835.2:p.Ala554Val
ENSP00000282499.5:p.Ala554Val
1/9555 5.0e-05 3 non_synonymous Uncertain Significance
View 11 108018032 108018039 ATGCCTTG > - ACAT1 NM_000019.3:c.1200_1207del
NP_000010.1:p.His400GlnfsTer57
4/11422 0.00018 2 frameshift Uncertain Significance
View 11 108165789 108165789 G > A ATM ENST00000278616.4:c.4909+3G>A
2/11422 9.0e-05 3 Uncertain Significance
View 11 108180945 108180945 G > C ATM ENST00000278616.4:c.5821G>C
ENSP00000278616.4:p.Val1941Leu
10/11422 0.00044 3 Uncertain Significance
View 11 108186750 108186750 T > C ATM ENST00000278616.4:c.6108T>C
ENSP00000278616.4:p.Tyr2036=
3/11422 0.00013 3 Uncertain Significance
View 11 108206648 108206648 C > T ATM ENST00000278616.4:c.8228C>T
ENSP00000278616.4:p.Thr2743Met
7/11422 0.00031 3 non_synonymous Uncertain Significance
View 11 111657193 111657193 A > G ALG9 ALG9 ALG9 ALG9 ENST00000531154.1:c.1272T>C
NM_001077691.1:c.1272T>C
NM_001077692.1:c.1251T>C
ENST00000398006.2:c.1251T>C
ENSP00000435517.1:p.Tyr424=
NP_001071159.1:p.Tyr424=
NP_001071160.1:p.Tyr417=
ENSP00000381090.2:p.Tyr417=
1/11422 4.0e-05 4 synonymous Uncertain Significance
View 11 111708280 111708280 G > A ALG9 ALG9 ALG9 ALG9 ENST00000531154.1:c.870C>T
NM_001077691.1:c.870C>T
NM_001077692.1:c.849C>T
ENST00000398006.2:c.849C>T
ENSP00000435517.1:p.Thr290=
NP_001071159.1:p.Thr290=
NP_001071160.1:p.Thr283=
ENSP00000381090.2:p.Thr283=
201/11422 0.0088 4 synonymous Uncertain Significance
View 11 111742157 111742157 C > G 2/11422 9.0e-05 4 Uncertain Significance
View 11 117282575 117282575 C > T CEP164 CEP164 NM_014956.4:c.4228C>T
NM_001271933.1:c.4213C>T
NP_055771.4:p.Gln1410Ter
NP_001258862.1:p.Gln1405Ter
29/9594 0.00151 3 Uncertain Significance
View 11 118221410 118221410 C > T CD3G NM_000073.2:c.439+12C>T
6/11383 0.00026 3 five_prime_intronic Uncertain Significance
View 11 118344855 118344857 CTT > - KMT2A KMT2A NM_001197104.1:c.2982_2984del
NM_005933.3:c.2982_2984del
NP_001184033.1:p.Ser997del
NP_005924.2:p.Ser997del
2/9594 0.0001 3 in_frame_indel Uncertain Significance
View 11 118373128 118373128 C > T KMT2A KMT2A NM_001197104.1:c.6521C>T
NM_005933.3:c.6512C>T
NP_001184033.1:p.Thr2174Ile
NP_005924.2:p.Thr2171Ile
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 11 118390503 118390503 C > T KMT2A KMT2A NM_001197104.1:c.11317C>T
NM_005933.3:c.11308C>T
NP_001184033.1:p.Leu3773Phe
NP_005924.2:p.Leu3770Phe
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 11 118461060 118461060 C > T ARCN1 ARCN1 NM_001142281.1:c.559C>T
NM_001655.4:c.823C>T
NP_001135753.1:p.His187Tyr
NP_001646.2:p.His275Tyr
1/9555 5.0e-05 3 non_synonymous Uncertain Significance
View 11 118972241 118972241 C > T DPAGT1 NM_001382.3:c.125G>A
NP_001373.2:p.Cys42Tyr
15/11422 0.00066 3 non_synonymous Uncertain Significance
View 11 119077252 119077252 A > T CBL NM_005188.3:c.125A>T
NP_005179.2:p.His42Leu
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 11 119216836 119216836 C > T MFRP C1QTNF5 NM_031433.3:c.191G>A
NM_015645.4:c.-2446G>A
NP_113621.1:p.Arg64His
3/9594 0.00016 3 non_synonymous Uncertain Significance
View 11 121016463 121016463 C > T TECTA NM_005422.2:c.3743C>T
NP_005413.2:p.Pro1248Leu
14/9594 0.00073 3 Uncertain Significance
View 11 121039395 121039395 C > A TECTA NM_005422.2:c.5760C>A
NP_005413.2:p.Asn1920Lys
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 11 126145267 126145267 G > A FOXRED1 FOXRED1 FOXRED1 NM_017547.3:c.677G>A
NR_037648.1:n.863G>A
NR_037647.1:n.623G>A
NP_060017.1:p.Gly226Glu
2/9594 0.0001 3 non_synonymous Uncertain Significance
View 11 126145709 126145709 C > T FOXRED1 FOXRED1 FOXRED1 NM_017547.3:c.754C>T
NR_037648.1:n.940C>T
NR_037647.1:n.700C>T
NP_060017.1:p.Arg252Cys
1/9594 5.0e-05 3 non_synonymous Uncertain Significance
View 11 126215285 126215285 G > A DCPS GSEC ENST00000263579.4:c.791G>A
NR_033839.1:n.147-3068C>T
ENSP00000263579.4:p.Arg264Gln
16/9595 0.00089 3 non_synonymous Uncertain Significance
View 11 126294582 126294582 C > G KIRREL3 NM_032531.3:c.2230G>C
NP_115920.1:p.Asp744His
4/9594 0.00021 3 non_synonymous Uncertain Significance
View 11 128709105 128709105 T > C KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 NM_000220.4:c.1091A>G
NM_153767.3:c.1034A>G
NM_153766.2:c.1034A>G
NM_153764.2:c.1034A>G
NM_153765.2:c.1085A>G
NP_000211.1:p.Asp364Gly
NP_722451.1:p.Asp345Gly
NP_722450.1:p.Asp345Gly
NP_722448.1:p.Asp345Gly
NP_722449.3:p.Asp362Gly
4/11422 0.00018 3 non_synonymous Uncertain Significance
Displaying 200 through 250 of 1,609 variants