Download: Excel

Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
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
3/14969 0.0001 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
8/14969 0.0003 3 curation Uncertain Significance
View 11 71155910 71155910 C > G DHCR7 DHCR7 NM_001163817.1:c.89G>C
NM_001360.2:c.89G>C
NP_001157289.1:p.Gly30Ala
NP_001351.2:p.Gly30Ala
4/14969 0.00013 3 Uncertain Significance
View 11 71201979 71201979 G > A NADSYN1 NM_018161.4:c.1651G>A
NP_060631.2:p.Val551Ile
4/13105 0.00015 3 non_synonymous 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
76/13817 0.00279 3 Uncertain Significance
View 11 73849756 73849756 C > G C2CD3 NM_015531.4:c.955+9G>C
4/11984 0.00017 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
7/14969 0.00023 1 Uncertain Significance
View 11 76885868 76885868 C > T MYO7A MYO7A MYO7A NM_000260.3:c.2002C>T
NM_001127179.2:c.2002C>T
NM_001127180.1:c.2002C>T
NP_000251.3:p.Arg668Cys
NP_001120651.2:p.Arg668Cys
NP_001120652.1:p.Arg668Cys
6/14969 0.0002 3 Uncertain Significance
View 11 76893494 76893494 T > C MYO7A MYO7A MYO7A NM_000260.3:c.3134T>C
NM_001127179.2:c.3134T>C
NM_001127180.1:c.3134T>C
NP_000251.3:p.Ile1045Thr
NP_001120651.2:p.Ile1045Thr
NP_001120652.1:p.Ile1045Thr
10/14969 0.00033 3 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
8/14969 0.00027 3 curation 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
3/14969 0.0001 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
9/14969 0.0003 3 non_synonymous Uncertain Significance
View 11 77832129 77832129 C > T ALG8 ALG8 NM_001007027.2:c.460G>A
NM_024079.4:c.460G>A
NP_001007028.1:p.Gly154Arg
NP_076984.2:p.Gly154Arg
1/14969 3.0e-05 3 non_synonymous Uncertain Significance
View 11 77835107 77835107 C > T ALG8 ALG8 NM_001007027.2:c.328G>A
NM_024079.4:c.328G>A
NP_001007028.1:p.Val110Ile
NP_076984.2:p.Val110Ile
3/14969 0.0001 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
5/11983 0.00021 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
1/13144 4.0e-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
1/13144 4.0e-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
104/13144 0.00396 3 non_synonymous Uncertain Significance
View 11 89017961 89017961 G > A TYR NM_000372.4:c.1205G>A
NP_000363.1:p.Arg402Gln
5204/13147 0.22766 1 Uncertain Significance
View 11 102991183 102991183 C > T DYNC2H1 DYNC2H1 NM_001080463.1:c.1007C>T
NM_001377.2:c.1007C>T
NP_001073932.1:p.Ala336Val
NP_001368.2:p.Ala336Val
15/14969 0.0005 3 non_synonymous 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
2/14969 7.0e-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
3/13105 0.00011 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
1/13105 4.0e-05 3 non_synonymous Uncertain Significance
View 11 108018032 108018039 ATGCCTTG > - ACAT1 NM_000019.3:c.1200_1207del
NP_000010.1:p.His400GlnfsTer57
6/14969 0.0002 2 frameshift Uncertain Significance
View 11 108165789 108165789 G > A ATM ENST00000278616.4:c.4909+3G>A
2/13810 7.0e-05 3 curation Uncertain Significance
View 11 108180945 108180945 G > C ATM ENST00000278616.4:c.5821G>C
ENSP00000278616.4:p.Val1941Leu
11/14969 0.00037 3 curation Uncertain Significance
View 11 108186750 108186750 T > C ATM ENST00000278616.4:c.6108T>C
ENSP00000278616.4:p.Tyr2036=
3/14969 0.0001 3 curation Uncertain Significance
View 11 108206648 108206648 C > T ATM ENST00000278616.4:c.8228C>T
ENSP00000278616.4:p.Thr2743Met
7/14969 0.00023 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=
1/14969 3.0e-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=
262/14969 0.00878 4 curation Uncertain Significance
View 11 111742157 111742157 C > G 2/14969 7.0e-05 4 Uncertain Significance
View 11 114121146 114121146 C > T ZBTB16 ZBTB16 NM_001018011.1:c.1891C>T
NM_006006.4:c.1891C>T
NP_001018011.1:p.Gln631Ter
NP_005997.2:p.Gln631Ter
1/13144 4.0e-05 2 premature_stop 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
38/13144 0.00145 3 curation Uncertain Significance
View 11 117866313 117866313 T > G IL10RA IL10RA NM_001558.3:c.698T>G
NR_026691.1:n.905T>G
NP_001549.2:p.Val233Gly
57/13144 0.00221 3 non_synonymous Uncertain Significance
View 11 118221410 118221410 C > T CD3G NM_000073.2:c.439+12C>T
8/13773 0.00029 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
2/13144 8.0e-05 3 in_frame_indel Uncertain Significance
View 11 118359426 118359426 G > A KMT2A KMT2A NM_001197104.1:c.4430G>A
NM_005933.3:c.4430G>A
NP_001184033.1:p.Arg1477His
NP_005924.2:p.Arg1477His
2/13144 8.0e-05 3 non_synonymous 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
1/13144 4.0e-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
3/13144 0.00011 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
1/13105 4.0e-05 3 non_synonymous Uncertain Significance
View 11 118969189 118969189 G > T DPAGT1 NM_001382.3:c.652C>A
NP_001373.2:p.Arg218=
1/14969 3.0e-05 3 Uncertain Significance
View 11 118972241 118972241 C > T DPAGT1 NM_001382.3:c.125G>A
NP_001373.2:p.Cys42Tyr
21/14969 0.0007 3 non_synonymous Uncertain Significance
View 11 119077252 119077252 A > T CBL NM_005188.3:c.125A>T
NP_005179.2:p.His42Leu
3/13144 0.00011 3 non_synonymous Uncertain Significance
View 11 119168146 119168146 A > G CBL NM_005188.3:c.2206A>G
NP_005179.2:p.Asn736Asp
3/13144 0.00011 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
4/13144 0.00015 3 non_synonymous Uncertain Significance
View 11 121016463 121016463 C > T TECTA NM_005422.2:c.3743C>T
NP_005413.2:p.Pro1248Leu
20/13144 0.00076 3 curation Uncertain Significance
View 11 121039395 121039395 C > A TECTA NM_005422.2:c.5760C>A
NP_005413.2:p.Asn1920Lys
1/13144 4.0e-05 3 non_synonymous Uncertain Significance
View 11 126144883 126144883 A > G FOXRED1 FOXRED1 FOXRED1 NM_017547.3:c.598A>G
NR_037648.1:n.784A>G
NR_037647.1:n.544A>G
NP_060017.1:p.Ile200Val
1/13144 4.0e-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
2/13144 8.0e-05 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
2/13144 8.0e-05 3 non_synonymous Uncertain Significance
Displaying 300 through 350 of 2,237 variants