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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 15 45393426 45393429 GAAC > - DUOX2 NM_014080.4:c.2895_2898del
NP_054799.4:p.Phe966SerfsTer29
62/13144 0.00236 1 Pathogenic
View 15 48703280 48703283 TTCT > - FBN1 ENST00000316623.5:c.8520_8523del
ENSP00000325527.5:p.Lys2840AsnfsTer5
2/13144 8.0e-05 1 Pathogenic
View 15 48718026 48718026 G > A FBN1 ENST00000316623.5:c.7240C>T
ENSP00000325527.5:p.Arg2414Ter
1/13144 4.0e-05 1 Pathogenic
View 15 48779298 48779298 G > T FBN1 ENST00000316623.5:c.3563C>A
ENSP00000325527.5:p.Ser1188Ter
1/13144 4.0e-05 1 curation Pathogenic
View 15 48782159 48782166 CAGTACCC > - FBN1 ENST00000316623.5:c.2964_2971del
ENSP00000325527.5:p.Trp988Ter
2/13144 8.0e-05 1 Pathogenic
View 15 48800830 48800830 A > C FBN1 ENST00000316623.5:c.1786T>G
ENSP00000325527.5:p.Cys596Gly
1/13144 4.0e-05 1 Pathogenic
View 15 56739085 56739088 CTTT > - MNS1 NM_018365.2:c.407_410del
NP_060835.1:p.Glu136GlyfsTer16
2/13105 0.00011 1 frameshift 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
1/13144 4.0e-05 1 curation 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
1/13144 4.0e-05 1 Pathogenic
View 15 65313871 65313871 G > A MTFMT NM_139242.3:c.626C>T
NP_640335.2:p.Ser209Leu
28/13144 0.00107 1 Pathogenic
View 15 72638920 72638921 - > GATA HEXA NM_000520.4:c.1274_1277dupTATC
NP_000511.2:p.Tyr427IlefsTer5
11/14969 0.0004 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
1/13105 4.0e-05 1 curation Pathogenic
View 15 80460605 80460605 G > T FAH NM_000137.2:c.554-1G>T
7/13811 0.00025 1 Pathogenic
View 15 80473390 80473390 G > T FAH NM_000137.2:c.1069G>T
NP_000128.1:p.Glu357Ter
4/14969 0.00013 1 Pathogenic
View 15 85186950 85186950 A > - WDR73 NM_032856.2:c.888del
NP_116245.2:p.Phe296LeufsTer26
3/13144 0.00015 1 Pathogenic
View 15 89386811 89386811 T > - ACAN ACAN NM_001135.3:c.983del
NM_013227.3:c.983del
NP_001126.3:p.Val328AlafsTer48
NP_037359.3:p.Val328AlafsTer48
2/13144 8.0e-05 2 frameshift 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
11/14969 0.00037 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
6/14969 0.0002 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
8/14969 0.00027 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
5/14969 0.00017 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
2/14969 7.0e-05 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
41/14969 0.00137 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
60/14969 0.002 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
31/14969 0.00104 1 Pathogenic
View 15 91304245 91304245 C > T BLM NM_000057.2:c.1642C>T
NP_000048.1:p.Gln548Ter
3/14969 0.0001 1 Pathogenic
View 15 96877642 96877642 C > A NR2F2 NR2F2 NR2F2 NR2F2 NM_001145155.1:c.381C>A
NM_001145156.1:c.321C>A
NM_001145157.1:c.321C>A
NM_021005.3:c.780C>A
NP_001138627.1:p.Cys127Ter
NP_001138628.1:p.Cys107Ter
NP_001138629.1:p.Cys107Ter
NP_066285.1:p.Cys260Ter
1/13144 4.0e-05 2 premature_stop Pathogenic
View 16 1550445 1550445 G > T TELO2 NM_016111.3:c.1100G>T
NP_057195.2:p.Cys367Phe
10/13144 0.00038 1 Pathogenic
View 16 1570005 1570006 - > C IFT140 NM_014714.3:c.3916dupG
NP_055529.2:p.Ala1306GlyfsTer56
1/13144 4.0e-05 1 Pathogenic
View 16 1823027 1823027 G > A MRPS34 NM_023936.1:c.94C>T
NP_076425.1:p.Gln32Ter
45/13105 0.00176 1 Pathogenic
View 16 2034416 2034416 C > - GFER NM_005262.2:c.199del
NP_005253.3:p.Arg67GlyfsTer83
4/13144 0.00015 1 curation Pathogenic
View 16 2126099 2126099 T > - TSC2 TSC2 TSC2 NM_000548.3:c.2670del
NM_001114382.1:c.2670del
NM_001077183.1:c.2670del
NP_000539.2:p.His891ThrfsTer3
NP_001107854.1:p.His891ThrfsTer3
NP_001070651.1:p.His891ThrfsTer3
1/13144 4.0e-05 1 Pathogenic
View 16 2129160 2129160 C > T TSC2 TSC2 TSC2 NM_000548.3:c.3094C>T
NM_001114382.1:c.3094C>T
NM_001077183.1:c.2962C>T
NP_000539.2:p.Arg1032Ter
NP_001107854.1:p.Arg1032Ter
NP_001070651.1:p.Arg988Ter
1/13144 4.0e-05 1 Pathogenic
View 16 2131680 2131681 - > T TSC2 TSC2 TSC2 NM_000548.3:c.3696dupT
NM_001114382.1:c.3696dupT
NM_001077183.1:c.3564dupT
NP_000539.2:p.Asn1233Ter
NP_001107854.1:p.Asn1233Ter
NP_001070651.1:p.Asn1189Ter
2/13144 8.0e-05 1 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
1/11983 4.0e-05 1 curation Pathogenic
View 16 2367764 2367764 T > A ABCA3 ENST00000301732.5:c.875A>T
ENSP00000301732.5:p.Glu292Val
143/14969 0.00478 1 Pathogenic
View 16 3076141 3076141 T > A THOC6 THOC6 NM_024339.3:c.298T>A
NM_001142350.1:c.298T>A
NP_077315.2:p.Trp100Arg
NP_001135822.1:p.Trp100Arg
24/13144 0.00091 1 Pathogenic
View 16 3077380 3077380 G > A THOC6 THOC6 NM_024339.3:c.824G>A
NM_001142350.1:c.810+99G>A
NP_077315.2:p.Gly275Asp
24/13144 0.00091 1 Pathogenic
View 16 3293310 3293310 A > G MEFV MEFV ENST00000219596.1:c.2177T>C
ENST00000541159.1:c.*381T>C
ENSP00000219596.1:p.Val726Ala
32/14969 0.00114 1 Pathogenic
View 16 3293405 3293405 C > T MEFV MEFV ENST00000219596.1:c.2082G>A
ENST00000541159.1:c.*286G>A
ENSP00000219596.1:p.Met694Ile
3/14969 0.0001 1 Pathogenic
View 16 3293407 3293407 T > C MEFV MEFV ENST00000219596.1:c.2080A>G
ENST00000541159.1:c.*284A>G
ENSP00000219596.1:p.Met694Val
9/14969 0.0003 1 Pathogenic
View 16 3786691 3786691 A > G CREBBP CREBBP NM_001079846.1:c.4406T>C
NM_004380.2:c.4520T>C
NP_001073315.1:p.Leu1469Pro
NP_004371.2:p.Leu1507Pro
3/13144 0.00011 1 curation 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
1/13144 4.0e-05 1 ClinVar pathogenic variant Pathogenic
View 16 5128790 5128790 C > T ALG1 NM_019109.4:c.773C>T
NP_061982.3:p.Ser258Leu
24/14969 0.0008 1 Pathogenic
View 16 5128858 5128858 G > T ALG1 NM_019109.4:c.841G>T
NP_061982.3:p.Val281Phe
2/14969 7.0e-05 1 Pathogenic
View 16 5134799 5134799 C > T EEF2KMT ALG1 EEF2KMT ENST00000427587.4:c.*834G>A
NM_019109.4:c.1312C>T
ENST00000458008.4:c.*834G>A
NP_061982.3:p.Arg438Trp
2/14969 7.0e-05 1 Pathogenic
View 16 8891573 8891573 G > T 3/13773 0.00011 1 Pathogenic
View 16 8904955 8904955 C > T PMM2 NM_000303.2:c.367C>T
NP_000294.1:p.Arg123Ter
2/14969 7.0e-05 1 Pathogenic
View 16 8905010 8905010 G > A PMM2 NM_000303.2:c.422G>A
NP_000294.1:p.Arg141His
121/14969 0.00404 1 Pathogenic
View 16 8905030 8905030 G > A PMM2 NM_000303.2:c.442G>A
NP_000294.1:p.Asp148Asn
6/14969 0.0002 1 Pathogenic
View 16 8941651 8941651 C > T PMM2 NM_000303.2:c.710C>T
NP_000294.1:p.Thr237Met
2/14969 7.0e-05 1 Pathogenic
Displaying 250 through 300 of 878 variants