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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 103234271 103234271 G > A PAH ENST00000553106.1:c.1222C>T
ENSP00000448059.1:p.Arg408Trp
14/8004 0.00087 1 Pathogenic
View 12 103238146 103238146 C > A PAH ENST00000553106.1:c.1033G>T
ENSP00000448059.1:p.Ala345Ser
1/8004 6.0e-05 1 Pathogenic
View 12 103246653 103246653 C > T PAH ENST00000553106.1:c.782G>A
ENSP00000448059.1:p.Arg261Gln
6/8004 0.00037 1 Pathogenic
View 12 103249093 103249093 C > A PAH ENST00000553106.1:c.527G>T
ENSP00000448059.1:p.Arg176Leu
3/8004 0.00019 1 Pathogenic
View 12 103306594 103306594 A > G PAH ENST00000553106.1:c.143T>C
ENSP00000448059.1:p.Leu48Ser
8/8004 0.0005 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
4/8004 0.00025 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
2/6213 0.00016 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
1/6213 8.0e-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
1/6213 8.0e-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
4/6213 0.00032 1 Pathogenic
View 12 112926258 112926258 G > C PTPN11 NM_002834.3:c.1391G>C
NP_002825.3:p.Gly464Ala
1/6213 8.0e-05 1 Pathogenic
View 12 112926897 112926897 A > C PTPN11 NM_002834.3:c.1517A>C
NP_002825.3:p.Gln506Pro
1/6213 8.0e-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
1/6213 8.0e-05 1 Pathogenic
View 13 20763582 20763582 C > A GJB2 NM_004004.5:c.139G>T
NP_003995.2:p.Glu47Ter
6/8004 0.00037 1 Pathogenic
View 13 20763686 20763686 C > - GJB2 NM_004004.5:c.35del
NP_003995.2:p.Gly12ValfsTer2
161/8004 0.01024 1 Pathogenic
View 13 31843415 31843415 G > A B3GLCT NM_194318.3:c.660+1G>A
8/6213 0.00064 1 Pathogenic
View 13 41381515 41381515 G > A TPTE2P5 SLC25A15 TPTE2P5 NR_038258.1:n.623-6655C>T
NM_014252.3:c.538G>A
NR_038259.1:n.452-6655C>T
NP_055067.1:p.Glu180Lys
2/8004 0.00012 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
42/8004 0.00269 1 Pathogenic
View 13 52524205 52524205 C > T ATP7B ATP7B ATP7B NM_001243182.1:c.2335G>A
NM_001005918.2:c.2182G>A
NM_000053.3:c.2668G>A
NP_001230111.1:p.Val779Met
NP_001005918.1:p.Val728Met
NP_000044.2:p.Val890Met
4/8223 0.00024 1 Pathogenic
View 13 108861713 108861713 T > - LIG4 LIG4 LIG4 NM_002312.3:c.1904del
NM_206937.1:c.1904del
NM_001098268.1:c.1904del
NP_002303.2:p.Lys635ArgfsTer10
NP_996820.1:p.Lys635ArgfsTer10
NP_001091738.1:p.Lys635ArgfsTer10
2/8004 0.00012 1 Pathogenic
View 14 24729019 24729019 T > C TGM1 NM_000359.2:c.877-2A>G
14/8004 0.00087 1 Pathogenic
View 14 24729150 24729150 C > T TGM1 NM_000359.2:c.872G>A
NP_000350.1:p.Gly291Asp
2/8004 0.00012 1 Pathogenic
View 14 50628269 50628269 G > C SOS2 NM_006939.2:c.1127C>G
NP_008870.2:p.Thr376Ser
1/6213 8.0e-05 1 Pathogenic
View 14 58899157 58899157 G > - KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.392del
NM_001244191.1:c.137del
NM_001244190.1:c.347del
NM_001244192.1:c.137del
NM_001244189.1:c.428del
NP_055564.3:p.Arg131LysfsTer4
NP_001231120.1:p.Arg46LysfsTer4
NP_001231119.1:p.Arg116LysfsTer4
NP_001231121.1:p.Arg46LysfsTer4
NP_001231118.1:p.Arg143LysfsTer4
52/6174 0.00429 1 Pathogenic
View 14 61446301 61446304 TATT > - TRMT5 NM_020810.2:c.312_315del
NP_065861.2:p.Ile105SerfsTer4
16/6174 0.0013 1 Pathogenic
View 14 76429687 76429687 G > A TGFB3 NM_003239.2:c.898C>T
NP_003230.1:p.Arg300Trp
1/6213 8.0e-05 1 Pathogenic
View 14 88442826 88442826 T > A GALC GALC ENST00000393569.2:c.550A>T
ENST00000261304.2:c.628A>T
ENSP00000377199.2:p.Arg184Ter
ENSP00000261304.2:p.Arg210Ter
1/8004 6.0e-05 1 Pathogenic
View 14 88452926 88452926 T > C GALC GALC ENST00000393569.2:c.271A>G
ENST00000261304.2:c.349A>G
ENSP00000377199.2:p.Met91Val
ENSP00000261304.2:p.Met117Val
1/8004 6.0e-05 1 Pathogenic
View 14 88459314 88459314 C > G GALC GALC ENST00000393569.2:c.117+413G>C
ENST00000261304.2:c.195G>C
ENSP00000261304.2:p.Gly65=
2/8004 0.00012 1 Pathogenic
View 14 88883104 88883104 T > A SPATA7 SPATA7 NM_001040428.3:c.192T>A
NM_018418.4:c.288T>A
NP_001035518.1:p.Cys64Ter
NP_060888.2:p.Cys96Ter
2/6213 0.00016 1 Pathogenic
View 15 25615817 25615817 G > A UBE3A UBE3A UBE3A NM_130839.2:c.1504C>T
NM_000462.3:c.1513C>T
NM_130838.1:c.1444C>T
NP_570854.1:p.Arg502Ter
NP_000453.2:p.Arg505Ter
NP_570853.1:p.Arg482Ter
1/6865 7.0e-05 1 Pathogenic
View 15 40707653 40707653 C > T IVD IVD NM_001159508.1:c.851C>T
NM_002225.3:c.941C>T
NP_001152980.1:p.Ala284Val
NP_002216.2:p.Ala314Val
18/8004 0.00112 1 Pathogenic
View 15 43695895 43695895 G > T TUBGCP4 NM_014444.2:c.1746G>T
NP_055259.2:p.Leu582=
9/6213 0.00072 1 Pathogenic
View 15 45393426 45393429 GAAC > - DUOX2 NM_014080.4:c.2895_2898del
NP_054799.4:p.Phe966SerfsTer29
27/6213 0.00217 1 Pathogenic
View 15 48703280 48703283 TTCT > - FBN1 ENST00000316623.5:c.8520_8523del
ENSP00000325527.5:p.Lys2840AsnfsTer5
2/6213 0.00016 2 frameshift Pathogenic
View 15 48779298 48779298 G > T FBN1 ENST00000316623.5:c.3563C>A
ENSP00000325527.5:p.Ser1188Ter
1/6213 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 15 48782159 48782166 CAGTACCC > - FBN1 ENST00000316623.5:c.2964_2971del
ENSP00000325527.5:p.Trp988Ter
2/6213 0.00016 1 Pathogenic
View 15 48800830 48800830 A > C FBN1 ENST00000316623.5:c.1786T>G
ENSP00000325527.5:p.Cys596Gly
1/6213 8.0e-05 1 Pathogenic
View 15 57554311 57554312 - > CT TCF12 TCF12 TCF12 TCF12 TCF12 NM_207037.1:c.1490_1491dupCT
NM_207036.1:c.1490_1491dupCT
NM_207040.1:c.908_909dupCT
NM_003205.3:c.1418_1419dupCT
NM_207038.1:c.1418_1419dupCT
NP_996920.1:p.Val498LeufsTer22
NP_996919.1:p.Val498LeufsTer22
NP_996923.1:p.Val304LeufsTer22
NP_003196.1:p.Val474LeufsTer22
NP_996921.1:p.Val474LeufsTer22
1/6213 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 15 65313871 65313871 G > A MTFMT NM_139242.3:c.626C>T
NP_640335.2:p.Ser209Leu
14/6213 0.00113 1 Pathogenic
View 15 72638920 72638921 - > GATA HEXA NM_000520.4:c.1274_1277dupTATC
NP_000511.2:p.Tyr427IlefsTer5
6/8004 0.00044 1 Pathogenic
View 15 75692449 75692450 - > AG SIN3A SIN3A SIN3A NM_001145358.1:c.1784_1785dupCT
NM_015477.2:c.1784_1785dupCT
NM_001145357.1:c.1784_1785dupCT
NP_001138830.1:p.Thr596LeufsTer4
NP_056292.1:p.Thr596LeufsTer4
NP_001138829.1:p.Thr596LeufsTer4
1/6174 8.0e-05 1 frameshift Pathogenic
View 15 85186950 85186950 A > - WDR73 NM_032856.2:c.888del
NP_116245.2:p.Phe296LeufsTer26
3/6213 0.00032 1 Pathogenic
View 15 89862296 89862296 G > A POLG POLG NM_002693.2:c.3139C>T
NM_001126131.1:c.3139C>T
NP_002684.1:p.Arg1047Trp
NP_001119603.1:p.Arg1047Trp
4/8004 0.00025 1 Pathogenic
View 15 89865011 89865011 G > A POLG POLG NM_002693.2:c.2554C>T
NM_001126131.1:c.2554C>T
NP_002684.1:p.Arg852Cys
NP_001119603.1:p.Arg852Cys
1/8004 6.0e-05 1 Pathogenic
View 15 89865023 89865023 C > T POLG POLG NM_002693.2:c.2542G>A
NM_001126131.1:c.2542G>A
NP_002684.1:p.Gly848Ser
NP_001119603.1:p.Gly848Ser
3/8004 0.00019 1 Pathogenic
View 15 89865980 89865980 G > A POLG POLG NM_002693.2:c.2419C>T
NM_001126131.1:c.2419C>T
NP_002684.1:p.Arg807Cys
NP_001119603.1:p.Arg807Cys
2/8004 0.00012 1 Pathogenic
View 15 89866691 89866691 C > G POLG POLG NM_002693.2:c.2209G>C
NM_001126131.1:c.2209G>C
NP_002684.1:p.Gly737Arg
NP_001119603.1:p.Gly737Arg
22/8004 0.00137 1 Pathogenic
View 15 89868870 89868870 G > A POLG POLG NM_002693.2:c.1760C>T
NM_001126131.1:c.1760C>T
NP_002684.1:p.Pro587Leu
NP_001119603.1:p.Pro587Leu
43/8004 0.00269 1 Pathogenic
View 16 1570005 1570006 - > C IFT140 NM_014714.3:c.3916dupG
NP_055529.2:p.Ala1306GlyfsTer56
1/6213 8.0e-05 1 Pathogenic
Displaying 100 through 150 of 407 variants