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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 | 71146886 | 71146886 | C > G | DHCR7 DHCR7 |
NM_001163817.1:c.964-1G>C NM_001360.2:c.964-1G>C |
134/10521 | 0.00642 | 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 |
2/10521 | 0.0001 | 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 |
19/10521 | 0.0009 | 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? |
3/10521 | 0.00014 | 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 |
10/10521 | 0.00048 | 1 | Pathogenic | |
| View | 11 | 103187273 | 103187273 | G > A | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.11671-1G>A NM_001377.2:c.11650-1G>A |
1/10521 | 5.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic | |
| View | 11 | 108009661 | 108009661 | A > G | ACAT1 |
NM_000019.3:c.472A>G |
NP_000010.1:p.Asn158Asp |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 11 | 108010834 | 108010834 | C > T | ACAT1 |
NM_000019.3:c.622C>T |
NP_000010.1:p.Arg208Ter |
3/10521 | 0.00014 | 1 | Pathogenic | |
| View | 11 | 108121753 | 108121754 | AG > - | ATM |
ENST00000278616.4:c.1564_1565del |
ENSP00000278616.4:p.Glu522IlefsTer43 |
3/10521 | 0.00014 | 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 |
1/8685 | 6.0e-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 |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 11 | 119148880 | 119148880 | A > C | CBL |
NM_005188.3:c.1100A>C |
NP_005179.2:p.Gln367Pro |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 12 | 5021268 | 5021268 | G > C | KCNA1 |
NM_000217.2:c.724G>C |
NP_000208.2:p.Ala242Pro |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 12 | 6143978 | 6143978 | C > T | VWF |
ENST00000261405.5:c.2561G>A |
ENSP00000261405.5:p.Arg854Gln |
77/8685 | 0.00455 | 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 |
1/8685 | 6.0e-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 |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49420661 | 49420661 | G > A | KMT2D |
NM_003482.3:c.15088C>T |
NP_003473.3:p.Arg5030Cys |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 12 | 49432295 | 49432298 | TGGA > - | KMT2D |
NM_003482.3:c.8841_8844del |
NP_003473.3:p.His2947GlnfsTer56 |
1/8685 | 6.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |
| View | 12 | 49445620 | 49445621 | - > A | KMT2D |
NM_003482.3:c.1845dupT |
NP_003473.3:p.Pro616SerfsTer7 |
1/8685 | 6.0e-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 |
1/10521 | 5.0e-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 |
1/8685 | 6.0e-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 |
5/10521 | 0.00024 | 1 | Pathogenic | |
| View | 12 | 88471040 | 88471040 | C > A | CEP290 |
ENST00000552810.1:c.5668G>T |
ENSP00000448012.1:p.Gly1890Ter |
3/10521 | 0.00014 | 1 | Pathogenic | |
| View | 12 | 88524101 | 88524101 | G > A | CEP290 |
ENST00000552810.1:c.613C>T |
ENSP00000448012.1:p.Arg205Ter |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 88530424 | 88530424 | T > - | CEP290 |
ENST00000552810.1:c.437del |
ENSP00000448012.1:p.Glu146GlyfsTer17 |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 102147248 | 102147249 | GA > - | GNPTAB |
NM_024312.4:c.3503_3504del |
NP_077288.2:p.Leu1168GlnfsTer5 |
25/10521 | 0.00119 | 1 | Pathogenic | |
| View | 12 | 103234252 | 103234252 | T > C | PAH |
ENST00000553106.1:c.1241A>G |
ENSP00000448059.1:p.Tyr414Cys |
13/10521 | 0.00062 | 1 | Pathogenic | |
| View | 12 | 103234271 | 103234271 | G > A | PAH |
ENST00000553106.1:c.1222C>T |
ENSP00000448059.1:p.Arg408Trp |
15/10521 | 0.00071 | 1 | Pathogenic | |
| View | 12 | 103238146 | 103238146 | C > A | PAH |
ENST00000553106.1:c.1033G>T |
ENSP00000448059.1:p.Ala345Ser |
1/10521 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 103246653 | 103246653 | C > T | PAH |
ENST00000553106.1:c.782G>A |
ENSP00000448059.1:p.Arg261Gln |
6/10521 | 0.00029 | 1 | Pathogenic | |
| View | 12 | 103246714 | 103246714 | G > A | PAH |
ENST00000553106.1:c.721C>T |
ENSP00000448059.1:p.Arg241Cys |
1/10521 | 5.0e-05 | 1 | Pathogenic | |
| View | 12 | 103249093 | 103249093 | C > A | PAH |
ENST00000553106.1:c.527G>T |
ENSP00000448059.1:p.Arg176Leu |
4/10521 | 0.00019 | 1 | Pathogenic | |
| View | 12 | 103260410 | 103260410 | C > T | PAH |
ENST00000553106.1:c.473G>A |
ENSP00000448059.1:p.Arg158Gln |
5/10521 | 0.00029 | 1 | Pathogenic | |
| View | 12 | 103306594 | 103306594 | A > G | PAH |
ENST00000553106.1:c.143T>C |
ENSP00000448059.1:p.Leu48Ser |
8/10521 | 0.00038 | 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 |
4/10521 | 0.00019 | 1 | Pathogenic | |
| View | 12 | 110011274 | 110011274 | G > T | MMAB MMAB |
NR_038118.1:n.85C>A NM_052845.3:c.12C>A |
NP_443077.1:p.Cys4Ter |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 112888156 | 112888156 | A > C | PTPN11 PTPN11 |
NM_002834.3:c.172A>C NM_080601.1:c.172A>C |
NP_002825.3:p.Asn58His NP_542168.1:p.Asn58His |
2/8685 | 0.00012 | 1 | Pathogenic | |
| View | 12 | 112888198 | 112888198 | G > T | PTPN11 PTPN11 |
NM_002834.3:c.214G>T NM_080601.1:c.214G>T |
NP_002825.3:p.Ala72Ser NP_542168.1:p.Ala72Ser |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 12 | 112888202 | 112888202 | C > T | PTPN11 PTPN11 |
NM_002834.3:c.218C>T NM_080601.1:c.218C>T |
NP_002825.3:p.Thr73Ile NP_542168.1:p.Thr73Ile |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 12 | 112915523 | 112915523 | A > G | PTPN11 PTPN11 |
NM_002834.3:c.922A>G NM_080601.1:c.922A>G |
NP_002825.3:p.Asn308Asp NP_542168.1:p.Asn308Asp |
4/8685 | 0.00023 | 1 | Pathogenic | |
| View | 12 | 112926258 | 112926258 | G > C | PTPN11 |
NM_002834.3:c.1391G>C |
NP_002825.3:p.Gly464Ala |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 12 | 112926897 | 112926897 | A > C | PTPN11 |
NM_002834.3:c.1517A>C |
NP_002825.3:p.Gln506Pro |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 12 | 114836432 | 114836432 | G > - | TBX5 TBX5 TBX5 |
NM_181486.2:c.456del NM_000192.3:c.456del NM_080717.2:c.306del |
NP_852259.1:p.Val153SerfsTer21 NP_000183.2:p.Val153SerfsTer21 NP_542448.1:p.Val103SerfsTer21 |
1/8685 | 6.0e-05 | 1 | Pathogenic | |
| View | 13 | 20763582 | 20763582 | C > A | GJB2 |
NM_004004.5:c.139G>T |
NP_003995.2:p.Glu47Ter |
7/10521 | 0.00033 | 1 | Pathogenic | |
| View | 13 | 20763686 | 20763686 | C > - | GJB2 |
NM_004004.5:c.35del |
NP_003995.2:p.Gly12ValfsTer2 |
202/10521 | 0.00974 | 1 | Pathogenic | |
| View | 13 | 31843415 | 31843415 | G > A | B3GLCT |
NM_194318.3:c.660+1G>A |
13/8685 | 0.00075 | 1 | Pathogenic | ||
| View | 13 | 37583420 | 37583420 | G > C | EXOSC8 |
NM_181503.2:c.815G>C |
NP_852480.1:p.Ser272Thr |
83/8685 | 0.00478 | 1 | Pathogenic | |
| View | 13 | 41381515 | 41381515 | G > A | TPTE2P5 TPTE2P5 SLC25A15 |
NR_038259.1:n.452-6655C>T NR_038258.1:n.623-6655C>T NM_014252.3:c.538G>A |
NP_055067.1:p.Glu180Lys |
2/10521 | 0.0001 | 1 | Pathogenic | |
| View | 13 | 51519581 | 51519581 | G > A | RNASEH2B RNASEH2B |
NM_001142279.2:c.529G>A NM_024570.3:c.529G>A |
NP_001135751.1:p.Ala177Thr NP_078846.2:p.Ala177Thr |
50/10521 | 0.00242 | 1 | Pathogenic | |
| View | 13 | 108861713 | 108861713 | T > - | LIG4 LIG4 LIG4 |
NM_002312.3:c.1904del NM_001098268.1:c.1904del NM_206937.1:c.1904del |
NP_002303.2:p.Lys635ArgfsTer10 NP_001091738.1:p.Lys635ArgfsTer10 NP_996820.1:p.Lys635ArgfsTer10 |
2/10521 | 0.0001 | 1 | Pathogenic |