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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
Displaying 150 through 200 of 878 variants