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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 |