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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 13 115091444 115091444 T > G CHAMP1 CHAMP1 CHAMP1 NM_032436.2:c.2127T>G
NM_001164145.1:c.2127T>G
NM_001164144.1:c.2127T>G
NP_115812.1:p.Tyr709Ter
NP_001157617.1:p.Tyr709Ter
NP_001157616.1:p.Tyr709Ter
1/8685 6.0e-05 1 premature_stop Pathogenic
View 14 24550680 24550680 A > G NRL NM_006177.3:c.479T>C
NP_006168.1:p.Leu160Pro
1/8685 6.0e-05 1 Pathogenic
View 14 24729019 24729019 T > C TGM1 NM_000359.2:c.877-2A>G
14/10521 0.00067 1 Pathogenic
View 14 24729150 24729150 C > T TGM1 NM_000359.2:c.872G>A
NP_000350.1:p.Gly291Asp
2/10521 0.0001 1 Pathogenic
View 14 50628269 50628269 G > C SOS2 NM_006939.2:c.1127C>G
NP_008870.2:p.Thr376Ser
1/8685 6.0e-05 1 Pathogenic
View 14 50768850 50768850 T > C L2HGDH NM_024884.2:c.293A>G
NP_079160.1:p.His98Arg
2/8685 0.00012 1 Pathogenic
View 14 58899157 58899157 G > - KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.392del
NM_001244189.1:c.428del
NM_001244190.1:c.347del
NM_001244191.1:c.137del
NM_001244192.1:c.137del
NP_055564.3:p.Arg131LysfsTer4
NP_001231118.1:p.Arg143LysfsTer4
NP_001231119.1:p.Arg116LysfsTer4
NP_001231120.1:p.Arg46LysfsTer4
NP_001231121.1:p.Arg46LysfsTer4
71/8646 0.00416 1 Pathogenic
View 14 58923419 58923419 G > C KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 KIAA0586 NM_014749.3:c.1254-1G>C
NM_001244189.1:c.1413-1G>C
NM_001244190.1:c.1209-1G>C
NM_001244191.1:c.999-1G>C
NM_001244192.1:c.1122-1G>C
NM_001244193.1:c.834-1G>C
6/8646 0.00035 1 Pathogenic
View 14 61446301 61446304 TATT > - TRMT5 NM_020810.2:c.312_315del
NP_065861.2:p.Ile105SerfsTer4
18/8646 0.00104 1 Pathogenic
View 14 76429687 76429687 G > A TGFB3 NM_003239.2:c.898C>T
NP_003230.1:p.Arg300Trp
1/8685 6.0e-05 1 Pathogenic
View 14 88431926 88431926 T > C GALC GALC ENST00000261304.2:c.956A>G
ENST00000393569.2:c.878A>G
ENSP00000261304.2:p.Tyr319Cys
ENSP00000377199.2:p.Tyr293Cys
6/10521 0.00029 1 Pathogenic
View 14 88442826 88442826 T > A GALC GALC ENST00000261304.2:c.628A>T
ENST00000393569.2:c.550A>T
ENSP00000261304.2:p.Arg210Ter
ENSP00000377199.2:p.Arg184Ter
1/10521 5.0e-05 1 Pathogenic
View 14 88452926 88452926 T > C GALC GALC ENST00000261304.2:c.349A>G
ENST00000393569.2:c.271A>G
ENSP00000261304.2:p.Met117Val
ENSP00000377199.2:p.Met91Val
1/10521 5.0e-05 1 Pathogenic
View 14 88459314 88459314 C > G GALC GALC ENST00000261304.2:c.195G>C
ENST00000393569.2:c.117+413G>C
ENSP00000261304.2:p.Gly65=
2/10521 0.0001 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
2/8685 0.00012 1 Pathogenic
View 14 102469031 102469031 G > A DYNC1H1 NM_001376.4:c.4700G>A
NP_001367.2:p.Arg1567Gln
1/8685 6.0e-05 1 Pathogenic
View 15 25615817 25615817 G > A UBE3A UBE3A UBE3A NM_130839.2:c.1504C>T
NM_130838.1:c.1444C>T
NM_000462.3:c.1513C>T
NP_570854.1:p.Arg502Ter
NP_570853.1:p.Arg482Ter
NP_000453.2:p.Arg505Ter
1/9384 5.0e-05 1 Pathogenic
View 15 28228529 28228529 T > C OCA2 NM_000275.2:c.1465A>G
NP_000266.2:p.Asn489Asp
11/8685 0.00063 1 Pathogenic
View 15 40707653 40707653 C > T IVD IVD NM_002225.3:c.941C>T
NM_001159508.1:c.851C>T
NP_002216.2:p.Ala314Val
NP_001152980.1:p.Ala284Val
19/10521 0.0009 1 Pathogenic
View 15 43695895 43695895 G > T TUBGCP4 NM_014444.2:c.1746G>T
NP_055259.2:p.Leu582=
11/8685 0.00063 1 Pathogenic
View 15 45393426 45393429 GAAC > - DUOX2 NM_014080.4:c.2895_2898del
NP_054799.4:p.Phe966SerfsTer29
43/8685 0.00248 1 Pathogenic
View 15 48703280 48703283 TTCT > - FBN1 ENST00000316623.5:c.8520_8523del
ENSP00000325527.5:p.Lys2840AsnfsTer5
2/8685 0.00012 1 ClinVar pathogenic variant Pathogenic
View 15 48779298 48779298 G > T FBN1 ENST00000316623.5:c.3563C>A
ENSP00000325527.5:p.Ser1188Ter
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 15 48782159 48782166 CAGTACCC > - FBN1 ENST00000316623.5:c.2964_2971del
ENSP00000325527.5:p.Trp988Ter
2/8685 0.00012 1 Pathogenic
View 15 48800830 48800830 A > C FBN1 ENST00000316623.5:c.1786T>G
ENSP00000325527.5:p.Cys596Gly
1/8685 6.0e-05 1 Pathogenic
View 15 57554311 57554312 - > CT TCF12 TCF12 TCF12 TCF12 TCF12 NM_207040.1:c.908_909dupCT
NM_003205.3:c.1418_1419dupCT
NM_207038.1:c.1418_1419dupCT
NM_207037.1:c.1490_1491dupCT
NM_207036.1:c.1490_1491dupCT
NP_996923.1:p.Val304LeufsTer22
NP_003196.1:p.Val474LeufsTer22
NP_996921.1:p.Val474LeufsTer22
NP_996920.1:p.Val498LeufsTer22
NP_996919.1:p.Val498LeufsTer22
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 15 60789728 60789728 G > A RORA RORA RORA RORA ENST00000449337.2:c.1333C>T
ENST00000309157.4:c.1573C>T
ENST00000335670.6:c.1498C>T
ENST00000261523.5:c.1597C>T
ENSP00000402971.2:p.Arg445Ter
ENSP00000309753.3:p.Arg525Ter
ENSP00000335087.6:p.Arg500Ter
ENSP00000261523.5:p.Arg533Ter
1/8685 6.0e-05 2 premature_stop Pathogenic
View 15 65313871 65313871 G > A MTFMT NM_139242.3:c.626C>T
NP_640335.2:p.Ser209Leu
15/8685 0.00086 1 Pathogenic
View 15 72638920 72638921 - > GATA HEXA NM_000520.4:c.1274_1277dupTATC
NP_000511.2:p.Tyr427IlefsTer5
6/10521 0.00033 1 Pathogenic
View 15 75692449 75692450 - > AG SIN3A SIN3A SIN3A NM_001145358.1:c.1784_1785dupCT
NM_001145357.1:c.1784_1785dupCT
NM_015477.2:c.1784_1785dupCT
NP_001138830.1:p.Thr596LeufsTer4
NP_001138829.1:p.Thr596LeufsTer4
NP_056292.1:p.Thr596LeufsTer4
1/8646 6.0e-05 1 frameshift Pathogenic
View 15 85186950 85186950 A > - WDR73 NM_032856.2:c.888del
NP_116245.2:p.Phe296LeufsTer26
3/8685 0.00023 1 Pathogenic
View 15 89862296 89862296 G > A POLG POLG NM_001126131.1:c.3139C>T
NM_002693.2:c.3139C>T
NP_001119603.1:p.Arg1047Trp
NP_002684.1:p.Arg1047Trp
4/10521 0.00019 1 Pathogenic
View 15 89864238 89864238 T > G POLG POLG NM_001126131.1:c.2740A>C
NM_002693.2:c.2740A>C
NP_001119603.1:p.Thr914Pro
NP_002684.1:p.Thr914Pro
4/10521 0.00019 1 Pathogenic
View 15 89865011 89865011 G > A POLG POLG NM_001126131.1:c.2554C>T
NM_002693.2:c.2554C>T
NP_001119603.1:p.Arg852Cys
NP_002684.1:p.Arg852Cys
3/10521 0.00014 1 Pathogenic
View 15 89865023 89865023 C > T POLG POLG NM_001126131.1:c.2542G>A
NM_002693.2:c.2542G>A
NP_001119603.1:p.Gly848Ser
NP_002684.1:p.Gly848Ser
5/10521 0.00024 1 Pathogenic
View 15 89865980 89865980 G > A POLG POLG NM_001126131.1:c.2419C>T
NM_002693.2:c.2419C>T
NP_001119603.1:p.Arg807Cys
NP_002684.1:p.Arg807Cys
2/10521 0.0001 1 Pathogenic
View 15 89866691 89866691 C > G POLG POLG NM_001126131.1:c.2209G>C
NM_002693.2:c.2209G>C
NP_001119603.1:p.Gly737Arg
NP_002684.1:p.Gly737Arg
27/10521 0.00128 1 Pathogenic
View 15 89868870 89868870 G > A POLG POLG NM_001126131.1:c.1760C>T
NM_002693.2:c.1760C>T
NP_001119603.1:p.Pro587Leu
NP_002684.1:p.Pro587Leu
45/10521 0.00214 1 Pathogenic
View 15 89870432 89870432 C > T POLG POLG NM_001126131.1:c.1399G>A
NM_002693.2:c.1399G>A
NP_001119603.1:p.Ala467Thr
NP_002684.1:p.Ala467Thr
18/10521 0.00086 1 Pathogenic
View 16 1550445 1550445 G > T TELO2 NM_016111.3:c.1100G>T
NP_057195.2:p.Cys367Phe
10/8685 0.00058 1 Pathogenic
View 16 1570005 1570006 - > C IFT140 NM_014714.3:c.3916dupG
NP_055529.2:p.Ala1306GlyfsTer56
1/8685 6.0e-05 1 Pathogenic
View 16 1823027 1823027 G > A MRPS34 NM_023936.1:c.94C>T
NP_076425.1:p.Gln32Ter
28/8646 0.00168 1 Pathogenic
View 16 2034416 2034416 C > - GFER NM_005262.2:c.199del
NP_005253.3:p.Arg67GlyfsTer83
2/8685 0.00012 1 ClinVar pathogenic variant Pathogenic
View 16 2134717 2134717 G > A TSC2 TSC2 TSC2 NM_000548.3:c.4493+1G>A
NM_001114382.1:c.4424+1G>A
NM_001077183.1:c.4292+1G>A
1/8685 6.0e-05 1 Pathogenic
View 16 2367764 2367764 T > A ABCA3 ENST00000301732.5:c.875A>T
ENSP00000301732.5:p.Glu292Val
93/10521 0.00442 1 Pathogenic
View 16 3293310 3293310 A > G MEFV MEFV ENST00000219596.1:c.2177T>C
ENST00000541159.1:c.*381T>C
ENSP00000219596.1:p.Val726Ala
21/10521 0.00109 1 Pathogenic
View 16 3293405 3293405 C > T MEFV MEFV ENST00000219596.1:c.2082G>A
ENST00000541159.1:c.*286G>A
ENSP00000219596.1:p.Met694Ile
3/10521 0.00014 1 Pathogenic
View 16 3293407 3293407 T > C MEFV MEFV ENST00000219596.1:c.2080A>G
ENST00000541159.1:c.*284A>G
ENSP00000219596.1:p.Met694Val
9/10521 0.00043 1 Pathogenic
View 16 3808883 3808883 G > - CREBBP CREBBP NM_001079846.1:c.3227del
NM_004380.2:c.3341del
NP_001073315.1:p.Pro1076LeufsTer2
NP_004371.2:p.Pro1114LeufsTer2
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 16 5128790 5128790 C > T ALG1 NM_019109.4:c.773C>T
NP_061982.3:p.Ser258Leu
20/10521 0.00095 1 Pathogenic
Displaying 150 through 200 of 521 variants