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| Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| View | 11 | 64527223 | 64527223 | G > A | PYGM PYGM |
NM_005609.2:c.148C>T NM_001164716.1:c.148C>T |
NP_005600.1:p.Arg50Ter NP_001158188.1:p.Arg50Ter |
41/10293 | 0.00199 | 1 | Pathogenic | |
| View | 11 | 65307505 | 65307505 | G > A | LTBP3 LTBP3 LTBP3 |
NM_021070.4:c.3245-153C>T NM_001130144.2:c.3364C>T NM_001164266.1:c.2894-153C>T |
NP_001123616.1:p.Gln1122Ter |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 65978677 | 65978677 | C > T | PACS1 |
NM_018026.3:c.607C>T |
NP_060496.2:p.Arg203Trp |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 11 | 66281940 | 66281941 | CT > - | BBS1 |
NM_024649.4:c.223_224del |
NP_078925.3:p.Leu75GlyfsTer23 |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 66293652 | 66293652 | T > G | BBS1 |
NM_024649.4:c.1169T>G |
NP_078925.3:p.Met390Arg |
58/9594 | 0.00313 | 1 | Pathogenic | |
| View | 11 | 67378501 | 67378501 | G > A | NDUFV1 NDUFV1 |
NM_007103.3:c.736G>A NM_001166102.1:c.709G>A |
NP_009034.2:p.Glu246Lys NP_001159574.1:p.Glu237Lys |
6/11422 | 0.00026 | 1 | Pathogenic | |
| View | 11 | 67379443 | 67379443 | C > T | NDUFV1 NDUFV1 |
NM_007103.3:c.1156C>T NM_001166102.1:c.1129C>T |
NP_009034.2:p.Arg386Cys NP_001159574.1:p.Arg377Cys |
3/11422 | 0.00018 | 1 | Pathogenic | |
| View | 11 | 68701322 | 68701322 | C > T | IGHMBP2 |
NM_002180.2:c.1478C>T |
NP_002171.2:p.Thr493Ile |
8/11422 | 0.00035 | 1 | Pathogenic | |
| View | 11 | 68701332 | 68701332 | C > A | IGHMBP2 |
NM_002180.2:c.1488C>A |
NP_002171.2:p.Cys496Ter |
4/11422 | 0.00018 | 1 | Pathogenic | |
| View | 11 | 68703756 | 68703756 | G > A | IGHMBP2 |
NM_002180.2:c.1808G>A |
NP_002171.2:p.Arg603His |
6/11422 | 0.00031 | 1 | Pathogenic | |
| View | 11 | 68707126 | 68707127 | AG > - | IGHMBP2 |
NM_002180.2:c.2911_2912del |
NP_002171.2:p.Arg971GlufsTer4 |
6/11422 | 0.00026 | 1 | Pathogenic | |
| View | 11 | 71146886 | 71146886 | C > A | DHCR7 DHCR7 |
NM_001163817.1:c.964-1G>T NM_001360.2:c.964-1G>T |
4/11422 | 0.00018 | 1 | Pathogenic | ||
| View | 11 | 71146886 | 71146886 | C > G | DHCR7 DHCR7 |
NM_001163817.1:c.964-1G>C NM_001360.2:c.964-1G>C |
146/11422 | 0.00643 | 1 | Pathogenic | ||
| View | 11 | 71152378 | 71152378 | A > G | DHCR7 DHCR7 |
NM_001163817.1:c.521T>C NM_001360.2:c.521T>C |
NP_001157289.1:p.Phe174Ser NP_001351.2:p.Phe174Ser |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 11 | 71152447 | 71152447 | C > T | DHCR7 DHCR7 |
NM_001163817.1:c.452G>A NM_001360.2:c.452G>A |
NP_001157289.1:p.Trp151Ter NP_001351.2:p.Trp151Ter |
21/11422 | 0.00092 | 1 | Pathogenic | |
| View | 11 | 71155998 | 71155998 | T > C | DHCR7 DHCR7 |
NM_001163817.1:c.1A>G NM_001360.2:c.1A>G |
NP_001157289.1:p.Met1? NP_001351.2:p.Met1? |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 89017973 | 89017973 | C > T | TYR |
NM_000372.4:c.1217C>T |
NP_000363.1:p.Pro406Leu |
81/9594 | 0.00422 | 1 | Pathogenic | |
| View | 11 | 103091449 | 103091449 | A > G | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.9044A>G NM_001377.2:c.9044A>G |
NP_001073932.1:p.Asp3015Gly NP_001368.2:p.Asp3015Gly |
10/11422 | 0.00044 | 1 | Pathogenic | |
| View | 11 | 103187273 | 103187273 | G > A | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.11671-1G>A NM_001377.2:c.11650-1G>A |
1/11422 | 4.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic | |
| View | 11 | 108009661 | 108009661 | A > G | ACAT1 |
NM_000019.3:c.472A>G |
NP_000010.1:p.Asn158Asp |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 11 | 108010834 | 108010834 | C > T | ACAT1 |
NM_000019.3:c.622C>T |
NP_000010.1:p.Arg208Ter |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 108121753 | 108121754 | AG > - | ATM |
ENST00000278616.4:c.1564_1565del |
ENSP00000278616.4:p.Glu522IlefsTer43 |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 11 | 118375197 | 118375197 | C > T | KMT2A KMT2A |
NM_001197104.1:c.8590C>T NM_005933.3:c.8581C>T |
NP_001184033.1:p.Gln2864Ter NP_005924.2:p.Gln2861Ter |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 11 | 118390416 | 118390416 | C > T | KMT2A KMT2A |
NM_001197104.1:c.11230C>T NM_005933.3:c.11221C>T |
NP_001184033.1:p.Arg3744Ter NP_005924.2:p.Arg3741Ter |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 118895981 | 118895982 | AG > - | SLC37A4 SLC37A4 SLC37A4 SLC37A4 SLC37A4 |
ENST00000357590.5:c.1108_1109del ENST00000538950.1:c.823_824del NM_001164280.1:c.1043_1044del ENST00000330775.7:c.1105_1106del ENST00000545985.1:c.1042_1043del |
ENSP00000476176.1:p.Leu370ValfsTer53 ENSP00000475991.1:p.Leu275ValfsTer53 NP_001157752.1:p.Pro348ArgfsTer? ENSP00000476242.1:p.Leu369ValfsTer53 ENSP00000475241.1:p.Leu348ValfsTer53 |
10/11422 | 0.00044 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 119148880 | 119148880 | A > C | CBL |
NM_005188.3:c.1100A>C |
NP_005179.2:p.Gln367Pro |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 5021268 | 5021268 | G > C | KCNA1 |
NM_000217.2:c.724G>C |
NP_000208.2:p.Ala242Pro |
2/9594 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 6143978 | 6143978 | C > T | VWF |
ENST00000261405.5:c.2561G>A |
ENSP00000261405.5:p.Arg854Gln |
81/9594 | 0.00433 | 1 | Pathogenic | |
| View | 12 | 13724865 | 13724865 | G > A | GRIN2B |
NM_000834.3:c.2044C>T |
NP_000825.2:p.Arg682Cys |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 48373317 | 48373317 | G > A | COL2A1 COL2A1 |
NM_033150.2:c.2503C>T NM_001844.4:c.2710C>T |
NP_149162.2:p.Arg835Cys NP_001835.3:p.Arg904Cys |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 48374723 | 48374723 | C > A | COL2A1 COL2A1 |
NM_033150.2:c.2285G>T NM_001844.4:c.2492G>T |
NP_149162.2:p.Gly762Val NP_001835.3:p.Gly831Val |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49420661 | 49420661 | G > A | KMT2D |
NM_003482.3:c.15088C>T |
NP_003473.3:p.Arg5030Cys |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 49432295 | 49432298 | TGGA > - | KMT2D |
NM_003482.3:c.8841_8844del |
NP_003473.3:p.His2947GlnfsTer56 |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49445620 | 49445621 | - > A | KMT2D |
NM_003482.3:c.1845dupT |
NP_003473.3:p.Pro616SerfsTer7 |
1/9594 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49579508 | 49579508 | C > T | TUBA1A TUBA1A TUBA1A |
NM_001270399.1:c.641G>A NM_006009.3:c.641G>A NM_001270400.1:c.536G>A |
NP_001257328.1:p.Arg214His NP_006000.2:p.Arg214His NP_001257329.1:p.Arg179His |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 52200900 | 52200900 | A > G | SCN8A SCN8A |
NM_014191.3:c.5630A>G NM_001177984.2:c.5507A>G |
NP_055006.1:p.Asn1877Ser NP_001171455.1:p.Asn1836Ser |
1/9594 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 53715207 | 53715207 | G > T | AAAS AAAS |
NM_001173466.1:c.43C>A NM_015665.5:c.43C>A |
NP_001166937.1:p.Gln15Lys NP_056480.1:p.Gln15Lys |
7/11422 | 0.00031 | 1 | Pathogenic | |
| View | 12 | 88471040 | 88471040 | C > A | CEP290 |
ENST00000552810.1:c.5668G>T |
ENSP00000448012.1:p.Gly1890Ter |
3/11422 | 0.00013 | 1 | Pathogenic | |
| View | 12 | 88524101 | 88524101 | G > A | CEP290 |
ENST00000552810.1:c.613C>T |
ENSP00000448012.1:p.Arg205Ter |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 12 | 88530424 | 88530424 | T > - | CEP290 |
ENST00000552810.1:c.437del |
ENSP00000448012.1:p.Glu146GlyfsTer17 |
2/11422 | 9.0e-05 | 1 | Pathogenic | |
| View | 12 | 102147248 | 102147249 | GA > - | GNPTAB |
NM_024312.4:c.3503_3504del |
NP_077288.2:p.Leu1168GlnfsTer5 |
25/11422 | 0.00109 | 1 | Pathogenic | |
| View | 12 | 103234252 | 103234252 | T > C | PAH |
ENST00000553106.1:c.1241A>G |
ENSP00000448059.1:p.Tyr414Cys |
16/11422 | 0.0007 | 1 | Pathogenic | |
| View | 12 | 103234271 | 103234271 | G > A | PAH |
ENST00000553106.1:c.1222C>T |
ENSP00000448059.1:p.Arg408Trp |
15/11422 | 0.00066 | 1 | Pathogenic | |
| View | 12 | 103238146 | 103238146 | C > A | PAH |
ENST00000553106.1:c.1033G>T |
ENSP00000448059.1:p.Ala345Ser |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 103246653 | 103246653 | C > T | PAH |
ENST00000553106.1:c.782G>A |
ENSP00000448059.1:p.Arg261Gln |
7/11422 | 0.00031 | 1 | Pathogenic | |
| View | 12 | 103246714 | 103246714 | G > A | PAH |
ENST00000553106.1:c.721C>T |
ENSP00000448059.1:p.Arg241Cys |
1/11422 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 103249093 | 103249093 | C > A | PAH |
ENST00000553106.1:c.527G>T |
ENSP00000448059.1:p.Arg176Leu |
4/11422 | 0.00018 | 1 | Pathogenic | |
| View | 12 | 103260410 | 103260410 | C > T | PAH |
ENST00000553106.1:c.473G>A |
ENSP00000448059.1:p.Arg158Gln |
5/11422 | 0.00026 | 1 | Pathogenic | |
| View | 12 | 103306594 | 103306594 | A > G | PAH |
ENST00000553106.1:c.143T>C |
ENSP00000448059.1:p.Leu48Ser |
8/11422 | 0.00035 | 1 | Pathogenic | |
| View | 12 | 109994886 | 109994886 | G > A | MMAB MMAB |
NR_038118.1:n.860C>T NM_052845.3:c.700C>T |
NP_443077.1:p.Gln234Ter |
4/11422 | 0.00018 | 1 | Pathogenic |