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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 NM_022114.3:c.827del
NM_199454.2:c.827del
NP_071397.3:p.Gly276AlafsTer68
NP_955533.2:p.Gly276AlafsTer68
2/5119 0.0002 2 frameshift Pathogenic
View 1 9787030 9787030 G > A PIK3CD NM_005026.3:c.3061G>A
NP_005017.3:p.Glu1021Lys
2/5119 0.0002 1 Pathogenic
View 1 11217230 11217230 C > A MTOR NM_004958.3:c.4448G>T
NP_004949.1:p.Cys1483Phe
1/5119 0.0001 1 Pathogenic
View 1 12058874 12058874 T > C MFN2 NM_001127660.1:c.647T>C
NM_014874.3:c.647T>C
NP_001121132.1:p.Phe216Ser
NP_055689.1:p.Phe216Ser
2/5119 0.0002 1 Pathogenic
View 1 16380203 16380203 G > - CLCNKB NM_001165945.2:c.1186del
NM_000085.4:c.1693del
NP_001159417.2:p.Glu396ArgfsTer7
NP_000076.2:p.Glu565ArgfsTer7
2/5119 0.00029 1 frameshift Pathogenic
View 1 21889651 21889651 G > A ALPL TRNAN-GUU NM_000478.4:c.346G>A
NM_001177520.1:c.115G>A
NM_001127501.2:c.181G>A
NP_000469.3:p.Ala116Thr
NP_001170991.1:p.Ala39Thr
NP_001120973.2:p.Ala61Thr
2/6913 0.00014 1 Pathogenic
View 1 21890632 21890632 G > A ALPL TRNAN-GUU NM_000478.4:c.571G>A
NM_001177520.1:c.340G>A
NM_001127501.2:c.406G>A
NP_000469.3:p.Glu191Lys
NP_001170991.1:p.Glu114Lys
NP_001120973.2:p.Glu136Lys
11/6913 0.0008 1 Pathogenic
View 1 21890681 21890681 A > C ALPL TRNAN-GUU NM_000478.4:c.620A>C
NM_001177520.1:c.389A>C
NM_001127501.2:c.455A>C
NP_000469.3:p.Gln207Pro
NP_001170991.1:p.Gln130Pro
NP_001120973.2:p.Gln152Pro
2/6913 0.00014 1 Pathogenic
View 1 21900176 21900176 A > C ALPL TRNAN-GUU NM_000478.4:c.881A>C
NM_001177520.1:c.650A>C
NM_001127501.2:c.716A>C
NP_000469.3:p.Asp294Ala
NP_001170991.1:p.Asp217Ala
NP_001120973.2:p.Asp239Ala
2/6913 0.00014 1 Pathogenic
View 1 21902229 21902229 G > A ALPL TRNAN-GUU NM_000478.4:c.1001G>A
NM_001177520.1:c.770G>A
NM_001127501.2:c.836G>A
NP_000469.3:p.Gly334Asp
NP_001170991.1:p.Gly257Asp
NP_001120973.2:p.Gly279Asp
3/6913 0.00022 1 Pathogenic
View 1 21902361 21902361 A > T ALPL TRNAN-GUU NM_000478.4:c.1133A>T
NM_001177520.1:c.902A>T
NM_001127501.2:c.968A>T
NP_000469.3:p.Asp378Val
NP_001170991.1:p.Asp301Val
NP_001120973.2:p.Asp323Val
4/6913 0.00029 1 Pathogenic
View 1 27056211 27056211 C > T TRNAN-GUU ARID1A NM_006015.4:c.1207C>T
NM_139135.2:c.1207C>T
NP_006006.3:p.Gln403Ter
NP_624361.1:p.Gln403Ter
2/5119 0.0002 1 premature_stop Pathogenic
View 1 40542587 40542587 T > A PPT1 TRNAN-GUU NM_001142604.1:c.418-2A>T
NM_000310.3:c.727-2A>T
5/6913 0.00036 1 Pathogenic
View 1 40555167 40555167 G > A TRNAN-GUU PPT1 NM_000310.3:c.451C>T
NM_001142604.1:c.142C>T
NP_000301.1:p.Arg151Ter
NP_001136076.1:p.Arg48Ter
13/6913 0.00094 1 Pathogenic
View 1 43221287 43221287 G > A TRNAN-GUU P3H1 NM_001243246.1:c.1102C>T
NM_001146289.1:c.1102C>T
ENST00000296388.5:c.1102C>T
NP_001230175.1:p.Arg368Ter
NP_001139761.1:p.Arg368Ter
ENSP00000296388.5:p.Arg368Ter
1/6913 7.0e-05 1 Pathogenic
View 1 45973216 45973217 - > A TRNAN-GUU MMACHC NM_015506.2:c.271dupA
NP_056321.2:p.Arg91LysfsTer14
22/6913 0.00159 1 Pathogenic
View 1 46658069 46658069 G > A TRNAN-GUU POMGNT1 ENST00000371984.3:c.1324C>T
ENST00000371992.1:c.1324C>T
ENSP00000361052.3:p.Arg442Cys
ENSP00000361060.1:p.Arg442Cys
2/6913 0.00014 1 Pathogenic
View 1 53668099 53668099 C > T TRNAN-GUU CPT2 NM_000098.2:c.338C>T
NP_000089.1:p.Ser113Leu
32/6913 0.00231 1 Pathogenic
View 1 63868019 63868019 G > A ALG6 TRNAN-GUU NM_013339.3:c.257+5G>A
16/6913 0.00123 1 Pathogenic
View 1 76198337 76198337 G > A TRNAN-GUU ACADM NM_000016.4:c.127G>A
NM_001127328.1:c.139G>A
NP_000007.1:p.Glu43Lys
NP_001120800.1:p.Glu47Lys
41/6913 0.00297 1 Pathogenic
View 1 76211473 76211473 G > A ACADM TRNAN-GUU NM_001127328.1:c.612-18G>A
NM_000016.4:c.600-18G>A
7/6895 0.00051 1 Pathogenic
View 1 76215129 76215129 C > T TRNAN-GUU ACADM NM_000016.4:c.734C>T
NM_001127328.1:c.746C>T
NP_000007.1:p.Ser245Leu
NP_001120800.1:p.Ser249Leu
2/6913 0.00014 1 Pathogenic
View 1 76215194 76215194 G > A TRNAN-GUU ACADM NM_000016.4:c.799G>A
NM_001127328.1:c.811G>A
NP_000007.1:p.Gly267Arg
NP_001120800.1:p.Gly271Arg
6/6913 0.00043 1 Pathogenic
View 1 76215245 76215245 G > A ACADM TRNAN-GUU NM_001127328.1:c.861+1G>A
NM_000016.4:c.849+1G>A
1/6913 7.0e-05 2 donor_site Pathogenic
View 1 76226846 76226846 A > G TRNAN-GUU ACADM NM_000016.4:c.985A>G
NM_001127328.1:c.997A>G
NP_000007.1:p.Lys329Glu
NP_001120800.1:p.Lys333Glu
93/6913 0.00694 1 Pathogenic
View 1 76226906 76226906 C > T TRNAN-GUU ACADM NM_000016.4:c.1045C>T
NM_001127328.1:c.1057C>T
NP_000007.1:p.Arg349Ter
NP_001120800.1:p.Arg353Ter
1/6913 7.0e-05 1 Pathogenic
View 1 97915614 97915614 C > T DPYD TRNAN-GUU ENST00000370192.3:c.1905+1G>A
73/7192 0.00508 1 Pathogenic
View 1 109441560 109441560 C > - TRNAN-GUU GPSM2 NM_013296.4:c.742del
NP_037428.3:p.Gly249GlufsTer32
3/5119 0.00029 1 Pathogenic
View 1 109465069 109465069 G > - TRNAN-GUU GPSM2 NM_013296.4:c.1473del
NP_037428.3:p.Phe492SerfsTer5
2/5119 0.0002 1 Pathogenic
View 1 153790590 153790590 G > A GATAD2B NM_020699.2:c.655C>T
NP_065750.1:p.Gln219Ter
1/5119 0.0001 2 premature_stop Pathogenic
View 1 154145448 154145448 G > A TPM3 NM_001278190.1:c.391C>T
NM_001043351.1:c.391C>T
NM_001278188.1:c.193C>T
NM_001278191.1:c.121C>T
NM_152263.3:c.502C>T
NM_001043353.1:c.391C>T
NM_153649.3: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_001036816.1:p.Arg131Cys
NP_001265117.1:p.Arg65Cys
NP_001265120.1:p.Arg41Cys
NP_689476.2:p.Arg168Cys
NP_001036818.1:p.Arg131Cys
NP_705935.1:p.Arg131Cys
NP_001265118.1:p.Arg131Cys
NP_001036817.1:p.Arg131Cys
2/5119 0.0002 1 Pathogenic
View 1 155261636 155261636 C > T PKLR NM_181871.3:c.1436G>A
NM_000298.5:c.1529G>A
NP_870986.1:p.Arg479Gln
NP_000289.1:p.Arg510Gln
19/6913 0.00137 1 Pathogenic
View 1 156106776 156106776 G > A 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
1/5771 9.0e-05 1 Pathogenic
View 1 169519049 169519049 T > C F5 ENST00000367797.3:c.1601A>G
ENSP00000356771.3:p.Gln534Arg
5110/5162 0.96804 1 ClinVar pathogenic variant Pathogenic
View 1 197411405 197411405 G > - CRB1 NR_047564.1:n.4197del
ENST00000367400.3:c.3988del
NR_047563.1:n.3989del
ENST00000367399.2:c.3652del
ENST00000538660.1:c.2380del
ENST00000535699.1:c.3916del
ENSP00000356370.3:p.Glu1330SerfsTer11
ENSP00000356369.2:p.Glu1218SerfsTer11
ENSP00000438091.1:p.Glu794SerfsTer11
ENSP00000438786.1:p.Glu1306SerfsTer11
2/5119 0.0002 1 Pathogenic
View 1 209961939 209961948 GAAATCACCA > - IRF6 NM_006147.3:c.1221_1230del
NM_001206696.1:c.936_945del
NP_006138.1:p.Gly408HisfsTer26
NP_001193625.1:p.Gly313HisfsTer26
1/5119 0.0001 1 frameshift Pathogenic
View 1 216497582 216497582 C > A USH2A ENST00000307340.3:c.1256G>T
ENST00000366942.3:c.1256G>T
ENSP00000305941.3:p.Cys419Phe
ENSP00000355909.3:p.Cys419Phe
3/6913 0.00022 1 Pathogenic
View 1 235564868 235564879 GGGAGCCACGAA > - 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
2/6913 0.00029 1 Pathogenic
View 1 245026981 245026982 - > C HNRNPU NM_004501.3:c.628dupG
NM_031844.2:c.628dupG
NP_004492.2:p.Ala210GlyfsTer14
NP_114032.2:p.Ala210GlyfsTer4
1/5119 0.0001 1 frameshift Pathogenic
View 10 14987109 14987109 G > A 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
1/6913 0.00014 1 Pathogenic
View 10 43617416 43617416 T > C RET ENST00000355710.3:c.2753T>C
ENST00000340058.5:c.2753T>C
ENSP00000347942.3:p.Met918Thr
ENSP00000344798.4:p.Met918Thr
2/5119 0.0002 1 Pathogenic
View 10 50678470 50678470 T > - ERCC6 NM_000124.3:c.3536del
NP_000115.1:p.Tyr1179LeufsTer22
2/6913 0.00014 1 Pathogenic
View 10 50738843 50738843 G > A ERCC6-PGBD3 ERCC6 NM_001277059.1:c.466C>T
NM_001277058.1:c.466C>T
NM_000124.3:c.466C>T
NP_001263988.1:p.Gln156Ter
NP_001263987.1:p.Gln156Ter
NP_000115.1:p.Gln156Ter
1/6913 7.0e-05 1 Pathogenic
View 10 72360387 72360387 G > A PRF1 NM_001083116.1:c.272C>T
NM_005041.4:c.272C>T
NP_001076585.1:p.Ala91Val
NP_005032.2:p.Ala91Val
572/6913 0.04289 1 Susceptibility factor for HLH when present with a second pathogenic variant. Not pathogenic alone. Pathogenic
View 10 79753125 79753125 G > A POLR3A NM_007055.3:c.2617C>T
NP_008986.2:p.Arg873Ter
4/5119 0.00039 1 premature_stop Pathogenic
View 10 79769273 79769273 C > T POLR3A NM_007055.3:c.1909+22G>A
27/5101 0.00265 1 intronic Pathogenic
View 10 79769277 79769277 C > T POLR3A NM_007055.3:c.1909+18G>A
2/5101 0.0002 1 Pathogenic
View 10 89692769 89692769 G > A PTEN NM_000314.4:c.254-1G>A
1/5771 9.0e-05 2 acceptor_site Pathogenic
View 10 89711913 89711913 T > G PTEN NM_000314.4:c.531T>G
NP_000305.3:p.Tyr177Ter
1/5771 9.0e-05 2 premature_stop Pathogenic
View 10 123274794 123274794 T > C FGFR2 NM_001144914.1:c.788A>G
NM_001144916.1:c.779A>G
NM_000141.4:c.1124A>G
NM_001144919.1:c.860A>G
NR_073009.1:n.1574A>G
NM_022970.3:c.1127A>G
NM_001144915.1:c.857A>G
NM_001144918.1:c.779A>G
NM_001144913.1:c.1127A>G
NM_023029.2:c.857A>G
NM_001144917.1:c.939+4699A>G
NP_001138386.1:p.Tyr263Cys
NP_001138388.1:p.Tyr260Cys
NP_000132.3:p.Tyr375Cys
NP_001138391.1:p.Tyr287Cys
NP_075259.4:p.Tyr376Cys
NP_001138387.1:p.Tyr286Cys
NP_001138390.1:p.Tyr260Cys
NP_001138385.1:p.Tyr376Cys
NP_075418.1:p.Tyr286Cys
1/5119 0.0001 1 Pathogenic
Displaying 1 through 50 of 332 variants