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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 12 56398270 56398270 G > A SUOX SUOX SUOX NM_000456.2:c.1097G>A
NM_001032386.1:c.1097G>A
NM_001032387.1:c.1097G>A
NP_000447.2:p.Arg366His
NP_001027558.1:p.Arg366His
NP_001027559.1:p.Arg366His
3/14969 0.0001 1 Likely pathogenic
View 12 76741292 76741292 G > T BBS10 NM_024685.3:c.473C>A
NP_078961.3:p.Ser158Ter
3/13144 0.00011 1 Likely pathogenic
View 12 79842800 79842800 C > T SYT1 SYT1 SYT1 NM_001135805.1:c.1165C>T
NM_001135806.1:c.1165C>T
NM_005639.2:c.1165C>T
NP_001129277.1:p.Arg389Ter
NP_001129278.1:p.Arg389Ter
NP_005630.1:p.Arg389Ter
1/13105 4.0e-05 1 premature_stop Likely pathogenic
View 12 88449386 88449386 T > - CEP290 ENST00000552810.1:c.6927del
ENSP00000448012.1:p.Val2310LeufsTer37
2/14969 7.0e-05 2 frameshift Likely pathogenic
View 12 88500674 88500675 GA > - CEP290 ENST00000552810.1:c.2594_2595del
ENSP00000448012.1:p.Leu865GlnfsTer9
2/14969 7.0e-05 2 frameshift Likely pathogenic
View 12 94772743 94772743 G > A CEP83 CEP83 NM_016122.2:c.625C>T
NM_001042399.1:c.625C>T
NP_057206.2:p.Arg209Ter
NP_001035858.1:p.Arg209Ter
10/13144 0.00038 1 Likely pathogenic
View 12 102190498 102190501 CAAA > - GNPTAB NM_024312.4:c.157_160del
NP_077288.2:p.Phe53IlefsTer29
2/14969 7.0e-05 1 ClinVar pathogenic variant Likely pathogenic
View 12 112888157 112888157 A > G PTPN11 PTPN11 NM_002834.3:c.173A>G
NM_080601.1:c.173A>G
NP_002825.3:p.Asn58Ser
NP_542168.1:p.Asn58Ser
1/13144 4.0e-05 1 Likely pathogenic
View 12 116435014 116435014 A > T MED13L NM_015335.4:c.2591T>A
NP_056150.1:p.Met864Lys
1/13144 4.0e-05 1 curation Likely pathogenic
View 12 120241182 120241183 - > G CIT CIT NM_001206999.1:c.1122dupC
NM_007174.2:c.1122dupC
NP_001193928.1:p.Phe375LeufsTer8
NP_009105.1:p.Phe375LeufsTer8
2/13105 8.0e-05 2 frameshift Likely pathogenic
View 12 120876244 120876244 A > - COX6A1 NM_004373.3:c.167del
NP_004364.2:p.Asn56MetfsTer4
2/13144 8.0e-05 2 curation Likely pathogenic
View 12 121416634 121416640 GAGCAAA > - HNF1A ENST00000541395.1:c.66_72del
ENSP00000443112.1:p.Ser22ArgfsTer3
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 12 123738480 123738480 A > - C12orf65 C12orf65 C12orf65 NM_001194995.1:c.259del
NM_001143905.2:c.259del
NM_152269.4:c.259del
NP_001181924.1:p.Ile87SerfsTer7
NP_001137377.1:p.Ile87SerfsTer7
NP_689482.1:p.Ile87SerfsTer7
4/13144 0.00015 2 frameshift Likely pathogenic
View 12 124114943 124114943 C > T EIF2B1 NM_001414.3:c.252+1G>A
9/11984 0.00038 1 Likely pathogenic
View 13 20763634 20763636 GAA > - GJB2 NM_004004.5:c.85_87del
NP_003995.2:p.Phe29del
1/14969 3.0e-05 1 Likely pathogenic
View 13 20763687 20763687 C > A GJB2 NM_004004.5:c.34G>T
NP_003995.2:p.Gly12Cys
7/14969 0.00023 1 Likely pathogenic
View 13 20797557 20797557 C > - GJB6 GJB6 GJB6 GJB6 NM_001110220.2:c.63del
NM_001110221.2:c.63del
NM_006783.4:c.63del
NM_001110219.2:c.63del
NP_001103690.1:p.Lys22ArgfsTer13
NP_001103691.1:p.Lys22ArgfsTer13
NP_006774.2:p.Lys22ArgfsTer13
NP_001103689.1:p.Lys22ArgfsTer13
14/13144 0.00053 1 Likely pathogenic
View 13 23909221 23909222 - > T SACS SACS NM_001278055.1:c.8352dupA
NM_014363.5:c.8793dupA
NP_001264984.1:p.Arg2785ThrfsTer7
NP_055178.3:p.Arg2932ThrfsTer7
4/14969 0.00013 2 frameshift Likely pathogenic
View 13 23912607 23912610 TTTT > - SACS SACS NM_001278055.1:c.4964_4967del
NM_014363.5:c.5405_5408del
NP_001264984.1:p.Lys1655SerfsTer11
NP_055178.3:p.Lys1802SerfsTer11
2/14969 7.0e-05 2 frameshift Likely pathogenic
View 13 25481044 25481044 G > A CENPJ CENPJ CENPJ NM_018451.4:c.1132C>T
NR_047595.1:n.1327C>T
NR_047594.1:n.1327C>T
NP_060921.3:p.Arg378Ter
5/13144 0.00019 2 premature_stop Likely pathogenic
View 13 31803321 31803321 G > T B3GLCT NM_194318.3:c.161-1G>T
29/11983 0.00121 2 acceptor_site Likely pathogenic
View 13 32912619 32912622 GAAA > - BRCA2 ENST00000380152.3:c.4127_4130del
ENSP00000369497.3:p.Gly1376AlafsTer11
2/13144 8.0e-05 1 Likely pathogenic
View 13 40254136 40254139 CTTA > - COG6 COG6 COG6 NM_001145079.1:c.651_654del
NM_020751.2:c.651_654del
NR_026745.1:n.816_819del
NP_001138551.1:p.Leu217PhefsTer20
NP_065802.1:p.Leu217PhefsTer20
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 13 40263947 40263947 T > - COG6 COG6 COG6 NM_001145079.1:c.1060del
NM_020751.2:c.1060del
NR_026745.1:n.1225del
NP_001138551.1:p.Cys354AlafsTer4
NP_065802.1:p.Cys354AlafsTer4
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 13 52548491 52548491 G > A ATP7B ATP7B ATP7B NM_001243182.1:c.802+63C>T
NM_000053.3:c.865C>T
NM_001005918.2:c.865C>T
NP_000044.2:p.Gln289Ter
NP_001005918.1:p.Gln289Ter
1/15408 3.0e-05 1 Likely pathogenic
View 13 52548551 52548552 - > A ATP7B ATP7B ATP7B NM_001243182.1:c.802+2dupT
NM_000053.3:c.804dupT
NM_001005918.2:c.804dupT
NP_000044.2:p.Lys269Ter
NP_001005918.1:p.Lys269Ter
2/15408 6.0e-05 2 donor_site Likely pathogenic
View 13 73369642 73369646 ATTAA > - PIBF1 NM_006346.2:c.505_509del
NP_006337.2:p.Leu169SerfsTer4
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 13 100953719 100953719 G > T PCCA PCCA PCCA NM_000282.3:c.1071G>T
NM_001178004.1:c.1071G>T
NM_001127692.2:c.993G>T
NP_000273.2:p.Glu357Asp
NP_001171475.1:p.Glu357Asp
NP_001121164.1:p.Glu331Asp
2/14969 0.00013 1 curation Likely pathogenic
View 13 113773250 113773250 C > G F7 F7 F7 F7 NM_019616.3:c.1263C>G
NR_051961.1:n.1350C>G
NM_000131.4:c.1329C>G
NM_001267554.1:c.1077C>G
NP_062562.1:p.Tyr421Ter
NP_000122.1:p.Tyr443Ter
NP_001254483.1:p.Tyr359Ter
1/13144 4.0e-05 2 premature_stop Likely pathogenic
View 14 20944591 20944591 G > C PNP NM_000270.3:c.701G>C
NP_000261.2:p.Arg234Pro
4/13144 0.00015 1 Likely pathogenic
View 14 21775896 21775914 CATTAAAGAGAAGGTAGAG > - RPGRIP1 NM_020366.3:c.808_826del
NP_065099.3:p.Ile270Ter
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 14 21865978 21865978 T > - CHD8 CHD8 NM_020920.3:c.4214+4del
NM_001170629.1:c.5051+4del
1/11983 4.0e-05 3 five_prime_flank Likely pathogenic
View 14 23894999 23894999 G > T MYH7 NM_000257.2:c.2191C>A
NP_000248.2:p.Pro731Thr
1/13144 4.0e-05 1 Likely pathogenic
View 14 45644584 45644585 - > T FANCM NM_020937.2:c.2629dupT
NP_065988.1:p.Ser877PhefsTer4
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 14 50101026 50101027 - > G DNAAF2 DNAAF2 NM_001083908.1:c.841dupC
NM_018139.2:c.841dupC
NP_001077377.1:p.His281ProfsTer2
NP_060609.2:p.His281ProfsTer2
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 14 50606770 50606770 T > C SOS2 NM_006939.2:c.2675A>G
NP_008870.2:p.Gln892Arg
1/13144 4.0e-05 2 curation Likely pathogenic
View 14 58895075 58895076 - > C KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.94dupC
NM_001244189.1:c.130dupC
NM_001244190.1:c.49dupC
NM_001244191.1:c.-57+721dupC
NM_001244192.1:c.-57+721dupC
NP_055564.3:p.His32ProfsTer8
NP_001231118.1:p.His44ProfsTer8
NP_001231119.1:p.His17ProfsTer8
4/13105 0.00015 1 Likely pathogenic
View 14 65237814 65237820 GCAGACG > - SPTB SPTB NM_000347.5:c.5581_5587del
NM_001024858.2:c.5581_5587del
NP_000338.3:p.Leu1862GlnfsTer36
NP_001020029.1:p.Leu1862GlnfsTer36
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 14 68234545 68234554 GAGCTGTCTA > - ZFYVE26 ENST00000347230.4:c.5657_5666del
ENSP00000251119.5:p.Leu1886ProfsTer12
2/13144 8.0e-05 2 frameshift Likely pathogenic
View 14 74531982 74531982 G > - ALDH6A1 BBOF1 ALDH6A1 ALDH6A1 NM_005589.3:c.1306del
NM_025057.2:c.*581del
NM_001278594.1:c.844del
NM_001278593.1:c.1267del
NP_005580.1:p.Gln436ArgfsTer3
NP_001265523.1:p.Gln282ArgfsTer3
NP_001265522.1:p.Gln423ArgfsTer3
2/13585 7.0e-05 2 frameshift Likely pathogenic
View 14 88401223 88401223 C > T GALC GALC ENST00000261304.2:c.1912-1G>A
ENST00000393569.2:c.1834-1G>A
1/13810 4.0e-05 2 acceptor_site Likely pathogenic
View 14 88407758 88407759 - > T GALC GALC ENST00000261304.2:c.1814dupA
ENST00000393569.2:c.1736dupA
ENSP00000261304.2:p.Tyr605Ter
ENSP00000377199.2:p.Tyr579Ter
2/14969 7.0e-05 1 Likely pathogenic
View 14 88452926 88452926 T > C GALC GALC ENST00000261304.2:c.349A>G
ENST00000393569.2:c.271A>G
ENSP00000261304.2:p.Met117Val
ENSP00000377199.2:p.Met91Val
4/14969 0.00013 1 Likely pathogenic
View 14 91760545 91760545 G > A CCDC88C NM_001080414.3:c.4084C>T
NP_001073883.2:p.Gln1362Ter
5/13144 0.00019 2 premature_stop Likely pathogenic
View 14 92361405 92361405 A > G FBLN5 NM_006329.3:c.391T>C
NP_006320.2:p.Cys131Arg
3/14969 0.00013 2 curation Likely pathogenic
View 14 102470854 102470854 G > A DYNC1H1 NM_001376.4:c.4884-1G>A
2/11983 8.0e-05 2 acceptor_site Likely pathogenic
View 14 105208339 105208344 CGTGAG > - ADSSL1 ADSSL1 NM_199165.1:c.1077_1077+5del
NM_152328.3:c.948_948+5del
1/13105 4.0e-05 2 disruption_of_splicing Likely pathogenic
View 15 28000618 28000618 C > A OCA2 NM_000275.2:c.2433G>T
NP_000266.2:p.Arg811Ser
4/13144 0.00015 1 Likely pathogenic
View 15 40501845 40501845 C > - BUB1B ENST00000287598.6:c.2153del
ENSP00000287598.6:p.Thr718IlefsTer14
1/13144 4.0e-05 2 frameshift Likely pathogenic
View 15 40917591 40917592 - > T KNL1 KNL1 NM_144508.4:c.5130dupT
NM_170589.4:c.5208dupT
NP_653091.3:p.Ile1711TyrfsTer3
NP_733468.3:p.Ile1737TyrfsTer3
6/13144 0.00023 2 frameshift Likely pathogenic
Displaying 100 through 150 of 530 variants