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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 | 5021268 | 5021268 | G > C | KCNA1 |
NM_000217.2:c.724G>C |
NP_000208.2:p.Ala242Pro |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 12 | 6143978 | 6143978 | C > T | VWF |
ENST00000261405.5:c.2561G>A |
ENSP00000261405.5:p.Arg854Gln |
133/13144 | 0.00514 | 1 | Pathogenic | |
| View | 12 | 6220045 | 6220045 | G > A | VWF |
ENST00000261405.5:c.310C>T |
ENSP00000261405.5:p.Gln104Ter |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 13724865 | 13724865 | G > A | GRIN2B |
NM_000834.3:c.2044C>T |
NP_000825.2:p.Arg682Cys |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 46245009 | 46245009 | C > T | ARID2 |
NM_152641.2:c.3103C>T |
NP_689854.2:p.Gln1035Ter |
1/13144 | 4.0e-05 | 2 | premature_stop | Pathogenic |
| View | 12 | 48372413 | 48372413 | G > A | COL2A1 COL2A1 |
NM_033150.2:c.2655C>T NM_001844.4:c.2862C>T |
NP_149162.2:p.Gly885= NP_001835.3:p.Gly954= |
3/13144 | 0.00011 | 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 |
1/13144 | 4.0e-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 |
1/13144 | 4.0e-05 | 1 | curation | Pathogenic |
| View | 12 | 48377185 | 48377185 | C > T | COL2A1 COL2A1 |
NM_033150.2:c.1825G>A NM_001844.4:c.2032G>A |
NP_149162.2:p.Gly609Arg NP_001835.3:p.Gly678Arg |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 12 | 48380136 | 48380136 | C > T | COL2A1 COL2A1 |
NM_033150.2:c.1303G>A NM_001844.4:c.1510G>A |
NP_149162.2:p.Gly435Ser NP_001835.3:p.Gly504Ser |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 49420661 | 49420661 | G > A | KMT2D |
NM_003482.3:c.15088C>T |
NP_003473.3:p.Arg5030Cys |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 49432295 | 49432298 | TGGA > - | KMT2D |
NM_003482.3:c.8841_8844del |
NP_003473.3:p.His2947GlnfsTer56 |
1/13144 | 4.0e-05 | 1 | curation | Pathogenic |
| View | 12 | 49445620 | 49445621 | - > A | KMT2D |
NM_003482.3:c.1845dupT |
NP_003473.3:p.Pro616SerfsTer7 |
1/13144 | 4.0e-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 |
1/14969 | 3.0e-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 |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 52911479 | 52911479 | G > C | KRT5 |
NM_000424.3:c.987C>G |
NP_000415.2:p.Asn329Lys |
1/13144 | 4.0e-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 |
8/14969 | 0.00027 | 1 | Pathogenic | |
| View | 12 | 57961297 | 57961297 | C > T | KIF5A |
NM_004984.2:c.610C>T |
NP_004975.2:p.Arg204Trp |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 12 | 58157481 | 58157482 | - > GGGTGGG | CYP27B1 |
NM_000785.3:c.1319_1325dupCCCACCC |
NP_000776.1:p.Phe443ProfsTer24 |
3/15408 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 88456563 | 88456563 | A > C | CEP290 |
ENST00000552810.1:c.6271-8T>G |
1/13810 | 4.0e-05 | 1 | Pathogenic | ||
| View | 12 | 88471040 | 88471040 | C > A | CEP290 |
ENST00000552810.1:c.5668G>T |
ENSP00000448012.1:p.Gly1890Ter |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 88472889 | 88472889 | G > A | CEP290 |
ENST00000552810.1:c.5344C>T |
ENSP00000448012.1:p.Arg1782Ter |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 88524101 | 88524101 | G > A | CEP290 |
ENST00000552810.1:c.613C>T |
ENSP00000448012.1:p.Arg205Ter |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 88530424 | 88530424 | T > - | CEP290 |
ENST00000552810.1:c.437del |
ENSP00000448012.1:p.Glu146GlyfsTer17 |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 88530474 | 88530477 | TCTA > - | CEP290 |
ENST00000552810.1:c.384_387del |
ENSP00000448012.1:p.Asp128GlufsTer34 |
3/14969 | 0.0001 | 1 | Pathogenic | |
| View | 12 | 102147248 | 102147249 | GA > - | GNPTAB |
NM_024312.4:c.3503_3504del |
NP_077288.2:p.Leu1168GlnfsTer5 |
35/14969 | 0.00117 | 1 | Pathogenic | |
| View | 12 | 103234252 | 103234252 | T > C | PAH |
ENST00000553106.1:c.1241A>G |
ENSP00000448059.1:p.Tyr414Cys |
20/14969 | 0.00067 | 1 | Pathogenic | |
| View | 12 | 103234271 | 103234271 | G > A | PAH |
ENST00000553106.1:c.1222C>T |
ENSP00000448059.1:p.Arg408Trp |
33/14969 | 0.0011 | 1 | Pathogenic | |
| View | 12 | 103238146 | 103238146 | C > A | PAH |
ENST00000553106.1:c.1033G>T |
ENSP00000448059.1:p.Ala345Ser |
1/14969 | 3.0e-05 | 1 | Pathogenic | |
| View | 12 | 103246653 | 103246653 | C > T | PAH |
ENST00000553106.1:c.782G>A |
ENSP00000448059.1:p.Arg261Gln |
10/14969 | 0.00033 | 1 | Pathogenic | |
| View | 12 | 103246701 | 103246701 | A > G | PAH |
ENST00000553106.1:c.734T>C |
ENSP00000448059.1:p.Val245Ala |
31/14969 | 0.00104 | 1 | Pathogenic | |
| View | 12 | 103246714 | 103246714 | G > A | PAH |
ENST00000553106.1:c.721C>T |
ENSP00000448059.1:p.Arg241Cys |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 103249093 | 103249093 | C > A | PAH |
ENST00000553106.1:c.527G>T |
ENSP00000448059.1:p.Arg176Leu |
4/14969 | 0.00013 | 1 | Pathogenic | |
| View | 12 | 103260410 | 103260410 | C > T | PAH |
ENST00000553106.1:c.473G>A |
ENSP00000448059.1:p.Arg158Gln |
5/14969 | 0.0002 | 1 | Pathogenic | |
| View | 12 | 103306594 | 103306594 | A > G | PAH |
ENST00000553106.1:c.143T>C |
ENSP00000448059.1:p.Leu48Ser |
7/14969 | 0.00023 | 1 | Pathogenic | |
| View | 12 | 109936104 | 109936104 | C > T | UBE3B UBE3B |
NM_130466.3:c.886C>T NM_183415.2:c.886C>T |
NP_569733.2:p.Arg296Ter NP_904324.1:p.Arg296Ter |
2/13144 | 8.0e-05 | 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 |
4/14969 | 0.00013 | 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 |
2/14969 | 7.0e-05 | 1 | Pathogenic | |
| View | 12 | 110034320 | 110034320 | G > A | MVK MVK |
NM_001114185.1:c.1129G>A NM_000431.2:c.1129G>A |
NP_001107657.1:p.Val377Ile NP_000422.1:p.Val377Ile |
63/14969 | 0.0021 | 1 | Pathogenic | |
| View | 12 | 112856920 | 112856920 | C > T | PTPN11 PTPN11 |
NM_002834.3:c.5C>T NM_080601.1:c.5C>T |
NP_002825.3:p.Thr2Ile NP_542168.1:p.Thr2Ile |
3/13144 | 0.00011 | 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 |
2/13144 | 8.0e-05 | 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 |
1/13144 | 4.0e-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 |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 112910785 | 112910785 | G > A | PTPN11 PTPN11 |
NM_002834.3:c.794G>A NM_080601.1:c.794G>A |
NP_002825.3:p.Arg265Gln NP_542168.1:p.Arg265Gln |
5/13144 | 0.00019 | 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 |
4/13144 | 0.00015 | 1 | Pathogenic | |
| View | 12 | 112926258 | 112926258 | G > C | PTPN11 |
NM_002834.3:c.1391G>C |
NP_002825.3:p.Gly464Ala |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 112926897 | 112926897 | A > C | PTPN11 |
NM_002834.3:c.1517A>C |
NP_002825.3:p.Gln506Pro |
1/13144 | 4.0e-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 |
1/13144 | 4.0e-05 | 1 | Pathogenic | |
| View | 12 | 121426785 | 121426785 | G > A | HNF1A |
ENST00000541395.1:c.476G>A |
ENSP00000443112.1:p.Arg159Gln |
2/13144 | 8.0e-05 | 1 | Pathogenic | |
| View | 12 | 123738316 | 123738317 | - > ATCC | C12orf65 C12orf65 C12orf65 |
NM_001194995.1:c.96_99dupATCC NM_001143905.2:c.96_99dupATCC NM_152269.4:c.96_99dupATCC |
NP_001181924.1:p.Pro34IlefsTer25 NP_001137377.1:p.Pro34IlefsTer25 NP_689482.1:p.Pro34IlefsTer25 |
4/13144 | 0.00015 | 1 | Pathogenic |