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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 3319504 3319504 G > - PRDM16 PRDM16 NM_022114.3:c.827del
NM_199454.2:c.827del
NP_071397.3:p.Gly276AlafsTer68
NP_955533.2:p.Gly276AlafsTer68
2/6213 0.00016 1 ClinVar pathogenic variant Pathogenic
View 1 9787030 9787030 G > A PIK3CD NM_005026.3:c.3061G>A
NP_005017.3:p.Glu1021Lys
1/6213 8.0e-05 1 Pathogenic
View 1 11217230 11217230 C > A MTOR NM_004958.3:c.4448G>T
NP_004949.1:p.Cys1483Phe
1/6213 8.0e-05 1 Pathogenic
View 1 12058874 12058874 T > C MFN2 MFN2 NM_001127660.1:c.647T>C
NM_014874.3:c.647T>C
NP_001121132.1:p.Phe216Ser
NP_055689.1:p.Phe216Ser
2/6213 0.00016 1 Pathogenic
View 1 16380203 16380203 G > - CLCNKB CLCNKB NM_001165945.2:c.1186del
NM_000085.4:c.1693del
NP_001159417.2:p.Glu396ArgfsTer7
NP_000076.2:p.Glu565ArgfsTer7
2/6213 0.00024 1 ClinVar pathogenic variant Pathogenic
View 1 21889651 21889651 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.181G>A
ENST00000539907.1:c.115G>A
ENST00000374840.3:c.346G>A
ENSP00000442672.1:p.Ala61Thr
ENSP00000437674.1:p.Ala39Thr
ENSP00000363973.3:p.Ala116Thr
2/8004 0.00012 1 Pathogenic
View 1 21890632 21890632 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.406G>A
ENST00000539907.1:c.340G>A
ENST00000374840.3:c.571G>A
ENSP00000442672.1:p.Glu136Lys
ENSP00000437674.1:p.Glu114Lys
ENSP00000363973.3:p.Glu191Lys
12/8004 0.00075 1 Pathogenic
View 1 21890681 21890681 A > C TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.455A>C
ENST00000539907.1:c.389A>C
ENST00000374840.3:c.620A>C
ENSP00000442672.1:p.Gln152Pro
ENSP00000437674.1:p.Gln130Pro
ENSP00000363973.3:p.Gln207Pro
2/8004 0.00012 1 Pathogenic
View 1 21900176 21900176 A > C TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.716A>C
ENST00000539907.1:c.650A>C
ENST00000374840.3:c.881A>C
ENSP00000442672.1:p.Asp239Ala
ENSP00000437674.1:p.Asp217Ala
ENSP00000363973.3:p.Asp294Ala
2/8004 0.00012 1 Pathogenic
View 1 21902229 21902229 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.836G>A
ENST00000539907.1:c.770G>A
ENST00000374840.3:c.1001G>A
ENSP00000442672.1:p.Gly279Asp
ENSP00000437674.1:p.Gly257Asp
ENSP00000363973.3:p.Gly334Asp
3/8004 0.00019 1 Pathogenic
View 1 21902361 21902361 A > T TRNAN-GUU ALPL ALPL ALPL ENST00000540617.1:c.968A>T
ENST00000539907.1:c.902A>T
ENST00000374840.3:c.1133A>T
ENSP00000442672.1:p.Asp323Val
ENSP00000437674.1:p.Asp301Val
ENSP00000363973.3:p.Asp378Val
4/8004 0.00025 1 Pathogenic
View 1 27056211 27056211 C > T TRNAN-GUU ARID1A ARID1A NM_006015.4:c.1207C>T
NM_139135.2:c.1207C>T
NP_006006.3:p.Gln403Ter
NP_624361.1:p.Gln403Ter
2/6213 0.00016 1 ClinVar pathogenic variant Pathogenic
View 1 27875965 27875986 del > - TRNAN-GUU AHDC1 NM_001029882.2:c.2641_2662del
NP_001025053.1:p.Ala881SerfsTer44
1/6213 8.0e-05 1 frameshift Pathogenic
View 1 40542587 40542587 T > A TRNAN-GUU PPT1 PPT1 NM_000310.3:c.727-2A>T
NM_001142604.1:c.418-2A>T
5/8004 0.00031 1 Pathogenic
View 1 40555167 40555167 G > A TRNAN-GUU PPT1 PPT1 NM_000310.3:c.451C>T
NM_001142604.1:c.142C>T
NP_000301.1:p.Arg151Ter
NP_001136076.1:p.Arg48Ter
14/8004 0.00087 1 Pathogenic
View 1 43221287 43221287 G > A TRNAN-GUU P3H1 P3H1 P3H1 NM_001243246.1:c.1102C>T
ENST00000296388.5:c.1102C>T
NM_001146289.1:c.1102C>T
NP_001230175.1:p.Arg368Ter
ENSP00000296388.5:p.Arg368Ter
NP_001139761.1:p.Arg368Ter
1/8004 6.0e-05 1 Pathogenic
View 1 43395556 43395556 G > A TRNAN-GUU SLC2A1 NM_006516.2:c.667C>T
NP_006507.2:p.Arg223Trp
1/6213 8.0e-05 1 Pathogenic
View 1 45973216 45973217 - > A TRNAN-GUU MMACHC NM_015506.2:c.271dupA
NP_056321.2:p.Arg91LysfsTer14
26/8004 0.00162 1 Pathogenic
View 1 45974520 45974520 G > A TRNAN-GUU MMACHC NM_015506.2:c.482G>A
NP_056321.2:p.Arg161Gln
5/8004 0.00031 1 Pathogenic
View 1 46658069 46658069 G > A TRNAN-GUU POMGNT1 POMGNT1 ENST00000371992.1:c.1324C>T
ENST00000371984.3:c.1324C>T
ENSP00000361060.1:p.Arg442Cys
ENSP00000361052.3:p.Arg442Cys
2/8004 0.00012 1 Pathogenic
View 1 47728587 47728587 G > C TRNAN-GUU STIL STIL NM_001048166.1:c.2817C>G
NM_003035.2:c.2814C>G
NP_001041631.1:p.Tyr939Ter
NP_003026.2:p.Tyr938Ter
4/6213 0.00032 2 premature_stop Pathogenic
View 1 53668099 53668099 C > T TRNAN-GUU CPT2 NM_000098.2:c.338C>T
NP_000089.1:p.Ser113Leu
35/8004 0.00219 1 Pathogenic
View 1 53675716 53675716 C > T TRNAN-GUU CPT2 NM_000098.2:c.370C>T
NP_000089.1:p.Arg124Ter
4/8004 0.00025 1 Pathogenic
View 1 63868019 63868019 G > A TRNAN-GUU ALG6 NM_013339.3:c.257+5G>A
19/8004 0.00125 1 Pathogenic
View 1 76198337 76198337 G > A TRNAN-GUU ACADM ACADM NM_000016.4:c.127G>A
NM_001127328.1:c.139G>A
NP_000007.1:p.Glu43Lys
NP_001120800.1:p.Glu47Lys
50/8004 0.00312 1 Pathogenic
View 1 76211473 76211473 G > A TRNAN-GUU ACADM ACADM NM_000016.4:c.600-18G>A
NM_001127328.1:c.612-18G>A
7/7965 0.00044 1 Pathogenic
View 1 76215129 76215129 C > T TRNAN-GUU ACADM ACADM NM_000016.4:c.734C>T
NM_001127328.1:c.746C>T
NP_000007.1:p.Ser245Leu
NP_001120800.1:p.Ser249Leu
2/8004 0.00012 1 Pathogenic
View 1 76215194 76215194 G > A TRNAN-GUU ACADM ACADM NM_000016.4:c.799G>A
NM_001127328.1:c.811G>A
NP_000007.1:p.Gly267Arg
NP_001120800.1:p.Gly271Arg
6/8004 0.00037 1 Pathogenic
View 1 76215245 76215245 G > A TRNAN-GUU ACADM ACADM NM_000016.4:c.849+1G>A
NM_001127328.1:c.861+1G>A
1/8004 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 1 76226846 76226846 A > G TRNAN-GUU ACADM ACADM NM_000016.4:c.985A>G
NM_001127328.1:c.997A>G
NP_000007.1:p.Lys329Glu
NP_001120800.1:p.Lys333Glu
106/8004 0.00681 1 Pathogenic
View 1 76226906 76226906 C > T TRNAN-GUU ACADM ACADM NM_000016.4:c.1045C>T
NM_001127328.1:c.1057C>T
NP_000007.1:p.Arg349Ter
NP_001120800.1:p.Arg353Ter
1/8004 6.0e-05 1 Pathogenic
View 1 97915614 97915614 C > T TRNAN-GUU DPYD ENST00000370192.3:c.1905+1G>A
89/8412 0.00529 1 Pathogenic
View 1 109441560 109441560 C > - TRNAN-GUU GPSM2 NM_013296.4:c.742del
NP_037428.3:p.Gly249GlufsTer32
3/6213 0.00024 1 Pathogenic
View 1 109465069 109465069 G > - TRNAN-GUU GPSM2 NM_013296.4:c.1473del
NP_037428.3:p.Phe492SerfsTer5
2/6213 0.00016 1 Pathogenic
View 1 153790590 153790590 G > A GATAD2B NM_020699.2:c.655C>T
NP_065750.1:p.Gln219Ter
1/6213 8.0e-05 2 premature_stop Pathogenic
View 1 154145448 154145448 G > A TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 NM_001278190.1:c.391C>T
NM_001278188.1:c.193C>T
NM_001043351.1:c.391C>T
NM_152263.3:c.502C>T
NM_001278191.1:c.121C>T
NM_153649.3:c.391C>T
NM_001043353.1:c.391C>T
NR_103461.1:n.521C>T
NM_001278189.1:c.391C>T
NM_001043352.1:c.391C>T
NP_001265119.1:p.Arg131Cys
NP_001265117.1:p.Arg65Cys
NP_001036816.1:p.Arg131Cys
NP_689476.2:p.Arg168Cys
NP_001265120.1:p.Arg41Cys
NP_705935.1:p.Arg131Cys
NP_001036818.1:p.Arg131Cys
NP_001265118.1:p.Arg131Cys
NP_001036817.1:p.Arg131Cys
2/6213 0.00016 1 Pathogenic
View 1 154574541 154574541 G > C ADAR ADAR ADAR ADAR NM_001025107.2:c.-309C>G
ENST00000368474.4:c.577C>G
ENST00000529168.1:c.562C>G
NM_001193495.1:c.-309C>G
ENSP00000357459.4:p.Pro193Ala
ENSP00000431794.1:p.Pro188Ala
45/6213 0.0037 1 Pathogenic
View 1 155261636 155261636 C > T PKLR PKLR NM_181871.3:c.1436G>A
NM_000298.5:c.1529G>A
NP_870986.1:p.Arg479Gln
NP_000289.1:p.Arg510Gln
23/8004 0.00144 1 Pathogenic
View 1 156106776 156106776 G > A LMNA LMNA LMNA LMNA LMNA LMNA NR_047544.1:n.2086G>A
NM_005572.3:c.1445G>A
NM_170708.3:c.1445G>A
NR_047545.1:n.1333G>A
NM_170707.3:c.1445G>A
NM_001257374.1:c.1109G>A
NP_005563.1:p.Arg482Gln
NP_733822.1:p.Arg482Gln
NP_733821.1:p.Arg482Gln
NP_001244303.1:p.Arg370Gln
1/6865 7.0e-05 1 Pathogenic
View 1 169519049 169519049 T > C F5 ENST00000367797.3:c.1601A>G
ENSP00000356771.3:p.Gln534Arg
6132/6255 0.95779 1 ClinVar pathogenic variant Pathogenic
View 1 197411405 197411405 G > - CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 NR_047564.1:n.4197del
ENST00000367400.3:c.3988del
ENST00000367399.2:c.3652del
NR_047563.1:n.3989del
ENST00000535699.1:c.3916del
ENST00000538660.1:c.2380del
ENSP00000356370.3:p.Glu1330SerfsTer11
ENSP00000356369.2:p.Glu1218SerfsTer11
ENSP00000438786.1:p.Glu1306SerfsTer11
ENSP00000438091.1:p.Glu794SerfsTer11
2/6213 0.00016 1 Pathogenic
View 1 209961939 209961948 GAAATCACCA > - IRF6 IRF6 NM_006147.3:c.1221_1230del
NM_001206696.1:c.936_945del
NP_006138.1:p.Gly408HisfsTer26
NP_001193625.1:p.Gly313HisfsTer26
1/6213 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 1 216497582 216497582 C > A USH2A USH2A ENST00000307340.3:c.1256G>T
ENST00000366942.3:c.1256G>T
ENSP00000305941.3:p.Cys419Phe
ENSP00000355909.3:p.Cys419Phe
3/8004 0.00019 1 Pathogenic
View 1 235564868 235564879 GGGAGCCACGAA > - TBCE TBCE NM_003193.3:c.155_166del
NM_001079515.1:c.155_166del
NP_003184.1:p.Ser52_Gly55del
NP_001072983.1:p.Ser52_Gly55del
2/8004 0.00025 1 Pathogenic
View 1 245026981 245026982 - > C HNRNPU HNRNPU NM_004501.3:c.628dupG
NM_031844.2:c.628dupG
NP_004492.2:p.Ala210GlyfsTer14
NP_114032.2:p.Ala210GlyfsTer4
1/6213 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 10 14987109 14987109 G > A DCLRE1C DCLRE1C DCLRE1C DCLRE1C NM_001033858.1:c.-442C>T
NM_001033857.1:c.-120C>T
NM_001033855.1:c.241C>T
NM_022487.2:c.-49C>T
NP_001029027.1:p.Arg81Ter
1/8004 0.00012 1 Pathogenic
View 10 43617416 43617416 T > C RET RET ENST00000340058.5:c.2753T>C
ENST00000355710.3:c.2753T>C
ENSP00000344798.4:p.Met918Thr
ENSP00000347942.3:p.Met918Thr
2/6213 0.00016 1 Pathogenic
View 10 50678470 50678470 T > - ERCC6 NM_000124.3:c.3536del
NP_000115.1:p.Tyr1179LeufsTer22
2/8004 0.00012 1 Pathogenic
View 10 50691550 50691550 G > A ERCC6 NM_000124.3:c.1834C>T
NP_000115.1:p.Arg612Ter
2/8004 0.00012 2 premature_stop Pathogenic
View 10 50713929 50713929 C > A ERCC6 NM_000124.3:c.1526+1G>T
6/8004 0.00044 1 ClinVar pathogenic variant Pathogenic
Displaying 1 through 50 of 407 variants