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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 92130876 92130876 C > T PEX1 NM_000466.2:c.2528G>A
NP_000457.1:p.Gly843Asp
13/8004 0.00081 1 Pathogenic
View 7 92132483 92132484 - > A PEX1 NM_000466.2:c.2097dupT
NP_000457.1:p.Ile700TyrfsTer42
21/8004 0.00131 1 Pathogenic
View 7 97493580 97493580 C > - ASNS ASNS ASNS ASNS ASNS ASNS NM_133436.3:c.478del
NM_001673.4:c.478del
NM_183356.3:c.478del
NM_001178076.1:c.229del
NM_001178075.1:c.415del
NM_001178077.1:c.229del
NP_597680.2:p.Glu160LysfsTer8
NP_001664.3:p.Glu160LysfsTer8
NP_899199.2:p.Glu160LysfsTer8
NP_001171547.1:p.Glu77LysfsTer8
NP_001171546.1:p.Glu139LysfsTer8
NP_001171548.1:p.Glu77LysfsTer8
2/6213 0.00016 1 ClinVar pathogenic variant Pathogenic
View 7 107555951 107555951 G > T DLD NM_000108.3:c.685G>T
NP_000099.2:p.Gly229Cys
6/8004 0.00037 1 Pathogenic
View 7 117149177 117149177 G > A CFTR NM_000492.3:c.254G>A
NP_000483.3:p.Gly85Glu
2/8223 0.00012 1 Pathogenic
View 7 117149197 117149197 G > A CFTR NM_000492.3:c.273+1G>A
1/8223 6.0e-05 1 Pathogenic
View 7 117170952 117170952 G > A CFTR NM_000492.3:c.274-1G>A
1/8223 6.0e-05 1 Pathogenic
View 7 117171029 117171029 G > A CFTR NM_000492.3:c.350G>A
NP_000483.3:p.Arg117His
33/8223 0.00201 1 Pathogenic
View 7 117180284 117180284 C > T CFTR NM_000492.3:c.1000C>T
NP_000483.3:p.Arg334Trp
3/8223 0.00024 1 Pathogenic
View 7 117180324 117180324 G > A CFTR NM_000492.3:c.1040G>A
NP_000483.3:p.Arg347His
2/8223 0.00012 1 Pathogenic
View 7 117188810 117188811 - > AGAT CFTR NM_000492.3:c.1327_1330dupGATA
NP_000483.3:p.Ile444ArgfsTer3
1/8184 6.0e-05 1 Pathogenic
View 7 117199644 117199646 ATC > - CFTR NM_000492.3:c.1519_1521del
NP_000483.3:p.Ile507del
1/8223 6.0e-05 1 Pathogenic
View 7 117199645 117199647 TCT > - CFTR NM_000492.3:c.1521_1523del
NP_000483.3:p.Phe508del
239/8223 0.01478 1 Pathogenic
View 7 117227792 117227792 G > A CFTR NM_000492.3:c.1585-1G>A
6/8223 0.00036 1 Pathogenic
View 7 117227832 117227832 G > T CFTR NM_000492.3:c.1624G>T
NP_000483.3:p.Gly542Ter
12/8223 0.00079 1 Pathogenic
View 7 117227859 117227859 G > A CFTR NM_000492.3:c.1651G>A
NP_000483.3:p.Gly551Ser
1/8223 6.0e-05 1 Pathogenic
View 7 117227887 117227887 G > C CFTR NM_000492.3:c.1679G>C
NP_000483.3:p.Arg560Thr
3/8223 0.00018 1 Pathogenic
View 7 117232266 117232267 - > A CFTR NM_000492.3:c.2052dupA
NP_000483.3:p.Gln685ThrfsTer4
3/8223 0.00018 1 Pathogenic
View 7 117232267 117232267 A > - CFTR NM_000492.3:c.2052del
NP_000483.3:p.Lys684AsnfsTer38
4/8223 0.00024 1 Pathogenic
View 7 117251649 117251649 T > G CFTR NM_000492.3:c.3154T>G
NP_000483.3:p.Phe1052Val
9/8223 0.00055 1 Pathogenic
View 7 117254753 117254753 G > C CFTR NM_000492.3:c.3454G>C
NP_000483.3:p.Asp1152His
9/8223 0.00055 1 Pathogenic
View 7 117292931 117292931 C > G CFTR NM_000492.3:c.3909C>G
NP_000483.3:p.Asn1303Lys
4/8223 0.00024 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
2/6213 0.00016 1 Pathogenic
View 8 38275472 38275472 C > T FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 FGFR1 NM_001174063.1:c.1462G>A
NM_023110.2:c.1468G>A
NM_023105.2:c.1201G>A
NM_001174067.1:c.1561G>A
NM_001174064.1:c.1438G>A
NM_001174065.1:c.1462G>A
NM_023106.2:c.1195G>A
NM_015850.3:c.1462G>A
NM_001174066.1:c.1201G>A
NP_001167534.1:p.Gly488Arg
NP_075598.2:p.Gly490Arg
NP_075593.1:p.Gly401Arg
NP_001167538.1:p.Gly521Arg
NP_001167535.1:p.Gly480Arg
NP_001167536.1:p.Gly488Arg
NP_075594.1:p.Gly399Arg
NP_056934.2:p.Gly488Arg
NP_001167537.1:p.Gly401Arg
1/6213 8.0e-05 1 Pathogenic
View 8 61734652 61734653 AG > - CHD7 NM_017780.3:c.2905_2906del
NP_060250.2:p.Arg969GlyfsTer25
1/6213 8.0e-05 1 Pathogenic
View 8 74893388 74893388 A > G TMEM70 TMEM70 TMEM70 NM_001040613.2:c.*7-2A>G
NM_017866.5:c.317-2A>G
NR_033334.1:n.550-2A>G
2/6213 0.00016 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
3/8004 0.00019 1 Pathogenic
View 8 101203682 101203686 GAGTA > - SPAG1 SPAG1 NM_003114.4:c.897_901del
NM_172218.2:c.897_901del
NP_003105.2:p.Lys301ThrfsTer4
NP_757367.1:p.Lys301ThrfsTer4
3/6213 0.00024 1 Pathogenic
View 8 105405032 105405032 G > A DPYS NM_001385.2:c.1423C>T
NP_001376.1:p.Arg475Ter
4/6213 0.00032 1 Pathogenic
View 8 116616566 116616566 G > A TRPS1 NM_014112.2:c.1630C>T
NP_054831.2:p.Arg544Ter
1/6213 8.0e-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
1/8223 6.0e-05 1 Pathogenic
View 8 143993994 143993994 G > T CYP11B2 NM_000498.3:c.1350C>A
NP_000489.3:p.Cys450Ter
2/6435 0.00023 1 ClinVar pathogenic variant Pathogenic
View 8 145584087 145584087 T > C SLC52A2 SLC52A2 SLC52A2 SLC52A2 NR_045600.1:n.1427T>C
NM_024531.4:c.935T>C
NM_001253815.1:c.935T>C
NM_001253816.1:c.935T>C
NP_078807.1:p.Leu312Pro
NP_001240744.1:p.Leu312Pro
NP_001240745.1:p.Leu312Pro
6/6213 0.00048 1 Pathogenic
View 9 32974493 32974493 C > T APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX APTX NM_001195250.1:c.717G>A
NM_001195254.1:c.675G>A
NM_001195251.1:c.837G>A
NR_036579.1:n.1080G>A
NR_036576.1:n.911G>A
NM_001195252.1:c.663G>A
NM_175069.2:c.879G>A
NM_001195249.1:c.837G>A
NR_036577.1:n.801G>A
NM_175073.2:c.837G>A
NM_001195248.1:c.879G>A
NR_036578.1:n.933G>A
NP_001182179.1:p.Trp239Ter
NP_001182183.1:p.Trp225Ter
NP_001182180.1:p.Trp279Ter
NP_001182181.1:p.Trp221Ter
NP_778239.1:p.Trp293Ter
NP_001182178.1:p.Trp279Ter
NP_778243.1:p.Trp279Ter
NP_001182177.1:p.Trp293Ter
9/8004 0.00075 1 Pathogenic
View 9 34647855 34647855 C > T GALT GALT NM_000155.3:c.404C>T
NM_001258332.1:c.77C>T
NP_000146.2:p.Ser135Leu
NP_001245261.1:p.Ser26Leu
9/8004 0.00056 1 Pathogenic
View 9 34648160 34648160 C > T GALT GALT NM_000155.3:c.556C>T
NM_001258332.1:c.229C>T
NP_000146.2:p.His186Tyr
NP_001245261.1:p.His77Tyr
1/8004 6.0e-05 1 Pathogenic
View 9 34648167 34648167 A > G GALT GALT NM_000155.3:c.563A>G
NM_001258332.1:c.236A>G
NP_000146.2:p.Gln188Arg
NP_001245261.1:p.Gln79Arg
57/8004 0.00362 1 Pathogenic
View 9 34648350 34648350 T > C GALT GALT NM_000155.3:c.584T>C
NM_001258332.1:c.257T>C
NP_000146.2:p.Leu195Pro
NP_001245261.1:p.Leu86Pro
3/8004 0.00019 1 Pathogenic
View 9 34648392 34648392 A > G GALT GALT NM_000155.3:c.626A>G
NM_001258332.1:c.299A>G
NP_000146.2:p.Tyr209Cys
NP_001245261.1:p.Tyr100Cys
5/8004 0.00031 1 Pathogenic
View 9 34649029 34649029 G > T GALT GALT NM_000155.3:c.855G>T
NM_001258332.1:c.528G>T
NP_000146.2:p.Lys285Asn
NP_001245261.1:p.Lys176Asn
7/8004 0.00044 1 Pathogenic
View 9 34649442 34649442 A > G GALT GALT NM_000155.3:c.940A>G
NM_001258332.1:c.613A>G
NP_000146.2:p.Asn314Asp
NP_001245261.1:p.Asn205Asp
1299/8004 0.08408 1 ClinVar pathogenic variant Pathogenic
View 9 34649532 34649532 C > A GALT GALT NM_000155.3:c.1030C>A
NM_001258332.1:c.703C>A
NP_000146.2:p.Gln344Lys
NP_001245261.1:p.Gln235Lys
1/8004 6.0e-05 1 Pathogenic
View 9 35076027 35076027 T > C FANCG NM_004629.1:c.1077-2A>G
4/6213 0.00032 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
8/6213 0.00072 1 Pathogenic
View 9 97888864 97888864 C > G FANCC FANCC FANCC NM_000136.2:c.844-1G>C
NM_001243744.1:c.844-1G>C
NM_001243743.1:c.844-1G>C
1/8004 6.0e-05 1 Pathogenic
View 9 97934315 97934315 T > A FANCC FANCC FANCC NM_000136.2:c.456+4A>T
NM_001243744.1:c.456+4A>T
NM_001243743.1:c.456+4A>T
2/8004 0.00012 1 Pathogenic
View 9 98011507 98011507 C > - FANCC FANCC FANCC NM_000136.2:c.67del
NM_001243744.1:c.67del
NM_001243743.1:c.67del
NP_000127.2:p.Asp23IlefsTer23
NP_001230673.1:p.Asp23IlefsTer23
NP_001230672.1:p.Asp23IlefsTer23
5/8004 0.00031 1 Pathogenic
View 9 98238429 98238429 C > - PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 PTCH1 NM_001083604.1:c.1162del
NM_000264.3:c.1615del
NM_001083603.1:c.1612del
NM_001083607.1:c.1162del
NM_001083606.1:c.1162del
NM_001083602.1:c.1417del
NM_001083605.1:c.1162del
NP_001077073.1:p.Glu388SerfsTer3
NP_000255.2:p.Glu539SerfsTer3
NP_001077072.1:p.Glu538SerfsTer3
NP_001077076.1:p.Glu388SerfsTer3
NP_001077075.1:p.Glu388SerfsTer3
NP_001077071.1:p.Glu473SerfsTer3
NP_001077074.1:p.Glu388SerfsTer3
1/6213 8.0e-05 1 Pathogenic
View 9 99017146 99017146 T > A HSD17B3 NM_000197.1:c.277+4A>T
16/8004 0.00106 1 Pathogenic
View 9 104184181 104184181 G > C ALDOB NM_000035.3:c.1005C>G
NP_000026.2:p.Asn335Lys
5/8004 0.00031 1 Pathogenic
Displaying 300 through 350 of 407 variants