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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 7 117149197 117149197 G > A CFTR NM_000492.3:c.273+1G>A
1/11765 4.0e-05 1 Pathogenic
View 7 117170952 117170952 G > A CFTR NM_000492.3:c.274-1G>A
1/11765 4.0e-05 1 Pathogenic
View 7 117171029 117171029 G > A CFTR NM_000492.3:c.350G>A
NP_000483.3:p.Arg117His
44/11765 0.00187 1 Pathogenic
View 7 117180284 117180284 C > T CFTR NM_000492.3:c.1000C>T
NP_000483.3:p.Arg334Trp
3/11765 0.00017 1 Pathogenic
View 7 117180324 117180324 G > A CFTR NM_000492.3:c.1040G>A
NP_000483.3:p.Arg347His
2/11765 8.0e-05 1 Pathogenic
View 7 117188810 117188811 - > AGAT CFTR NM_000492.3:c.1327_1330dupGATA
NP_000483.3:p.Ile444ArgfsTer3
1/11726 4.0e-05 1 Pathogenic
View 7 117199644 117199646 ATC > - CFTR NM_000492.3:c.1519_1521del
NP_000483.3:p.Ile507del
1/11765 4.0e-05 1 Pathogenic
View 7 117199645 117199647 TCT > - CFTR NM_000492.3:c.1521_1523del
NP_000483.3:p.Phe508del
342/11765 0.0147 1 Pathogenic
View 7 117227792 117227792 G > A CFTR NM_000492.3:c.1585-1G>A
7/11765 0.0003 1 Pathogenic
View 7 117227832 117227832 G > T CFTR NM_000492.3:c.1624G>T
NP_000483.3:p.Gly542Ter
15/11765 0.00068 1 Pathogenic
View 7 117227859 117227859 G > A CFTR NM_000492.3:c.1651G>A
NP_000483.3:p.Gly551Ser
3/11765 0.00013 1 Pathogenic
View 7 117227887 117227887 G > C CFTR NM_000492.3:c.1679G>C
NP_000483.3:p.Arg560Thr
4/11765 0.00017 1 Pathogenic
View 7 117232266 117232267 - > A CFTR NM_000492.3:c.2052dupA
NP_000483.3:p.Gln685ThrfsTer4
4/11765 0.00017 1 Pathogenic
View 7 117232267 117232267 A > - CFTR NM_000492.3:c.2052del
NP_000483.3:p.Lys684AsnfsTer38
5/11765 0.00021 1 Pathogenic
View 7 117254753 117254753 G > C CFTR NM_000492.3:c.3454G>C
NP_000483.3:p.Asp1152His
14/11765 0.00059 1 Pathogenic
View 7 117292931 117292931 C > G CFTR NM_000492.3:c.3909C>G
NP_000483.3:p.Asn1303Lys
5/11765 0.00021 1 Pathogenic
View 7 143027948 143027948 G > A CLCN1 CLCN1 ENST00000343257.2:c.937G>A
NR_046453.1:n.1027G>A
ENSP00000339867.2:p.Ala313Thr
2/9594 0.0001 1 Pathogenic
View 8 24813737 24813737 T > C NEFL NM_006158.4:c.293A>G
NP_006149.2:p.Asn98Ser
1/9594 5.0e-05 1 Pathogenic
View 8 24813762 24813762 C > T NEFL NM_006158.4:c.268G>A
NP_006149.2:p.Glu90Lys
1/9594 5.0e-05 1 Pathogenic
View 8 38275472 38275472 C > T FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 NM_023106.2:c.1195G>A
NM_001174063.1:c.1462G>A
NM_023105.2:c.1201G>A
NM_001174066.1:c.1201G>A
NM_001174067.1:c.1561G>A
NM_001174064.1:c.1438G>A
NM_001174065.1:c.1462G>A
NM_015850.3:c.1462G>A
NM_023110.2:c.1468G>A
NP_075594.1:p.Gly399Arg
NP_001167534.1:p.Gly488Arg
NP_075593.1:p.Gly401Arg
NP_001167537.1:p.Gly401Arg
NP_001167538.1:p.Gly521Arg
NP_001167535.1:p.Gly480Arg
NP_001167536.1:p.Gly488Arg
NP_056934.2:p.Gly488Arg
NP_075598.2:p.Gly490Arg
1/9594 5.0e-05 1 Pathogenic
View 8 61654265 61654266 - > C CHD7 NM_017780.3:c.274_275insC
NP_060250.2:p.Asn92ThrfsTer41
1/9594 5.0e-05 2 frameshift Pathogenic
View 8 61655654 61655654 C > T CHD7 NM_017780.3:c.1663C>T
NP_060250.2:p.Gln555Ter
1/9594 5.0e-05 2 premature_stop Pathogenic
View 8 61693733 61693734 - > AA CHD7 NM_017780.3:c.1840_1841insAA
NP_060250.2:p.Gly614GlufsTer12
1/9594 5.0e-05 2 frameshift Pathogenic
View 8 61734652 61734653 AG > - CHD7 NM_017780.3:c.2905_2906del
NP_060250.2:p.Arg969GlyfsTer25
1/9594 5.0e-05 1 Pathogenic
View 8 61769121 61769121 C > T CHD7 NM_017780.3:c.7282C>T
NP_060250.2:p.Arg2428Ter
1/9594 5.0e-05 1 Pathogenic
View 8 74893388 74893388 A > G TMEM70 TMEM70 TMEM70 NM_017866.5:c.317-2A>G
NM_001040613.2:c.*7-2A>G
NR_033334.1:n.550-2A>G
2/9594 0.0001 1 Pathogenic
View 8 94777802 94777803 AG > - TMEM67 TMEM67 TMEM67 NM_153704.5:c.579_580del
NM_001142301.1:c.336_337del
NR_024522.1:n.650_651del
NP_714915.3:p.Gly195IlefsTer13
NP_001135773.1:p.Gly114IlefsTer13
3/11422 0.00013 1 Pathogenic
View 8 94777845 94777845 A > T TMEM67 TMEM67 TMEM67 NM_153704.5:c.622A>T
NM_001142301.1:c.379A>T
NR_024522.1:n.693A>T
NP_714915.3:p.Arg208Ter
NP_001135773.1:p.Arg127Ter
6/11422 0.00026 1 Pathogenic
View 8 101203682 101203686 GAGTA > - SPAG1 SPAG1 NM_172218.2:c.897_901del
NM_003114.4:c.897_901del
NP_757367.1:p.Lys301ThrfsTer4
NP_003105.2:p.Lys301ThrfsTer4
7/9594 0.00036 1 Pathogenic
View 8 105405032 105405032 G > A DPYS NM_001385.2:c.1423C>T
NP_001376.1:p.Arg475Ter
4/9594 0.00021 1 Pathogenic
View 8 116616566 116616566 G > A TRPS1 NM_014112.2:c.1630C>T
NP_054831.2:p.Arg544Ter
1/9594 5.0e-05 1 Pathogenic
View 8 143956440 143956440 C > T CYP11B1 CYP11B1 NM_001026213.1:c.1200+210G>A
NM_000497.3:c.1331G>A
NP_000488.3:p.Gly444Asp
1/11765 4.0e-05 1 Pathogenic
View 8 143993994 143993994 G > T CYP11B2 NM_000498.3:c.1350C>A
NP_000489.3:p.Cys450Ter
2/9939 0.00015 1 ClinVar pathogenic variant Pathogenic
View 8 144900581 144900582 - > G PUF60 PUF60 PUF60 PUF60 PUF60 PUF60 PUF60 PUF60 NM_001271097.1:c.333dupC
NM_001271098.1:c.468dupC
NM_001136033.2:c.342dupC
NM_001271096.1:c.417dupC
NM_014281.4:c.420dupC
NM_001271100.1:c.291dupC
NM_001271099.1:c.384dupC
NM_078480.2:c.471dupC
NP_001258026.1:p.Ile112HisfsTer21
NP_001258027.1:p.Ile157HisfsTer21
NP_001129505.1:p.Ile115HisfsTer21
NP_001258025.1:p.Ile140HisfsTer21
NP_055096.2:p.Ile141HisfsTer21
NP_001258029.1:p.Ile98HisfsTer21
NP_001258028.1:p.Ile129HisfsTer21
NP_510965.1:p.Ile158HisfsTer21
1/9594 5.0e-05 1 frameshift Pathogenic
View 8 145584087 145584087 T > C SLC52A2 SLC52A2 SLC52A2 SLC52A2 NM_001253816.1:c.935T>C
NM_001253815.1:c.935T>C
NR_045600.1:n.1427T>C
NM_024531.4:c.935T>C
NP_001240745.1:p.Leu312Pro
NP_001240744.1:p.Leu312Pro
NP_078807.1:p.Leu312Pro
7/9594 0.00036 1 Pathogenic
View 9 6540050 6540050 C > G GLDC NM_000170.2:c.2665+1G>C
2/11422 9.0e-05 1 Pathogenic
View 9 32974493 32974493 C > T APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX NM_001195249.1:c.837G>A
NM_175069.2:c.879G>A
NM_001195248.1:c.879G>A
NR_036576.1:n.911G>A
NM_001195254.1:c.675G>A
NR_036579.1:n.1080G>A
NM_001195252.1:c.663G>A
NM_001195251.1:c.837G>A
NR_036577.1:n.801G>A
NM_001195250.1:c.717G>A
NM_175073.2:c.837G>A
NR_036578.1:n.933G>A
NP_001182178.1:p.Trp279Ter
NP_778239.1:p.Trp293Ter
NP_001182177.1:p.Trp293Ter
NP_001182183.1:p.Trp225Ter
NP_001182181.1:p.Trp221Ter
NP_001182180.1:p.Trp279Ter
NP_001182179.1:p.Trp239Ter
NP_778243.1:p.Trp279Ter
11/11422 0.00061 1 Pathogenic
View 9 34647855 34647855 C > T GALT GALT NM_001258332.1:c.77C>T
NM_000155.3:c.404C>T
NP_001245261.1:p.Ser26Leu
NP_000146.2:p.Ser135Leu
12/11422 0.00053 1 Pathogenic
View 9 34648160 34648160 C > T GALT GALT NM_001258332.1:c.229C>T
NM_000155.3:c.556C>T
NP_001245261.1:p.His77Tyr
NP_000146.2:p.His186Tyr
1/11422 4.0e-05 1 Pathogenic
View 9 34648167 34648167 A > G GALT GALT NM_001258332.1:c.236A>G
NM_000155.3:c.563A>G
NP_001245261.1:p.Gln79Arg
NP_000146.2:p.Gln188Arg
69/11422 0.00306 1 Pathogenic
View 9 34648350 34648350 T > C GALT GALT NM_001258332.1:c.257T>C
NM_000155.3:c.584T>C
NP_001245261.1:p.Leu86Pro
NP_000146.2:p.Leu195Pro
3/11422 0.00013 1 Pathogenic
View 9 34648392 34648392 A > G GALT GALT NM_001258332.1:c.299A>G
NM_000155.3:c.626A>G
NP_001245261.1:p.Tyr100Cys
NP_000146.2:p.Tyr209Cys
5/11422 0.00022 1 Pathogenic
View 9 34649029 34649029 G > T GALT GALT NM_001258332.1:c.528G>T
NM_000155.3:c.855G>T
NP_001245261.1:p.Lys176Asn
NP_000146.2:p.Lys285Asn
7/11422 0.00031 1 Pathogenic
View 9 34649442 34649442 A > G GALT GALT NM_001258332.1:c.613A>G
NM_000155.3:c.940A>G
NP_001245261.1:p.Asn205Asp
NP_000146.2:p.Asn314Asp
1781/11422 0.0809 1 ClinVar pathogenic variant Pathogenic
View 9 34649532 34649532 C > A GALT GALT NM_001258332.1:c.703C>A
NM_000155.3:c.1030C>A
NP_001245261.1:p.Gln235Lys
NP_000146.2:p.Gln344Lys
1/11422 4.0e-05 1 Pathogenic
View 9 35076027 35076027 T > C FANCG NM_004629.1:c.1077-2A>G
4/9594 0.00021 1 Pathogenic
View 9 37783990 37783990 T > G EXOSC3 EXOSC3 NM_001002269.2:c.395A>C
NM_016042.3:c.395A>C
NP_001002269.1:p.Asp132Ala
NP_057126.2:p.Asp132Ala
9/9594 0.00052 1 Pathogenic
View 9 80022476 80022477 AG > - VPS13A VPS13A NM_033305.2:c.9431_9432del
NM_001018037.1:c.9314_9315del
NP_150648.2:p.Glu3144ValfsTer6
NP_001018047.1:p.Glu3105ValfsTer6
2/9594 0.0001 1 Pathogenic
View 9 97888864 97888864 C > G FANCC FANCC FANCC NM_001243744.1:c.844-1G>C
NM_001243743.1:c.844-1G>C
NM_000136.2:c.844-1G>C
1/11422 4.0e-05 1 Pathogenic
View 9 97934315 97934315 T > A FANCC FANCC FANCC NM_001243744.1:c.456+4A>T
NM_001243743.1:c.456+4A>T
NM_000136.2:c.456+4A>T
2/11422 9.0e-05 1 Pathogenic
Displaying 450 through 500 of 574 variants