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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_199454.2:c.827del
NM_022114.3:c.827del
NP_955533.2:p.Gly276AlafsTer68
NP_071397.3:p.Gly276AlafsTer68
2/8685 0.00012 1 ClinVar pathogenic variant Pathogenic
View 1 9787030 9787030 G > A PIK3CD NM_005026.3:c.3061G>A
NP_005017.3:p.Glu1021Lys
1/8685 6.0e-05 1 Pathogenic
View 1 11217230 11217230 C > A MTOR NM_004958.3:c.4448G>T
NP_004949.1:p.Cys1483Phe
1/8685 6.0e-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
4/8685 0.00023 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
2/8685 0.00017 1 ClinVar pathogenic variant Pathogenic
View 1 21889651 21889651 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.346G>A
ENST00000539907.1:c.115G>A
ENST00000540617.1:c.181G>A
ENSP00000363973.3:p.Ala116Thr
ENSP00000437674.1:p.Ala39Thr
ENSP00000442672.1:p.Ala61Thr
2/10521 0.0001 1 Pathogenic
View 1 21890632 21890632 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.571G>A
ENST00000539907.1:c.340G>A
ENST00000540617.1:c.406G>A
ENSP00000363973.3:p.Glu191Lys
ENSP00000437674.1:p.Glu114Lys
ENSP00000442672.1:p.Glu136Lys
19/10521 0.0009 1 Pathogenic
View 1 21890681 21890681 A > C TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.620A>C
ENST00000539907.1:c.389A>C
ENST00000540617.1:c.455A>C
ENSP00000363973.3:p.Gln207Pro
ENSP00000437674.1:p.Gln130Pro
ENSP00000442672.1:p.Gln152Pro
2/10521 0.0001 1 Pathogenic
View 1 21900176 21900176 A > C TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.881A>C
ENST00000539907.1:c.650A>C
ENST00000540617.1:c.716A>C
ENSP00000363973.3:p.Asp294Ala
ENSP00000437674.1:p.Asp217Ala
ENSP00000442672.1:p.Asp239Ala
5/10521 0.00024 1 Pathogenic
View 1 21902229 21902229 G > A TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.1001G>A
ENST00000539907.1:c.770G>A
ENST00000540617.1:c.836G>A
ENSP00000363973.3:p.Gly334Asp
ENSP00000437674.1:p.Gly257Asp
ENSP00000442672.1:p.Gly279Asp
3/10521 0.00014 1 Pathogenic
View 1 21902361 21902361 A > T TRNAN-GUU ALPL ALPL ALPL ENST00000374840.3:c.1133A>T
ENST00000539907.1:c.902A>T
ENST00000540617.1:c.968A>T
ENSP00000363973.3:p.Asp378Val
ENSP00000437674.1:p.Asp301Val
ENSP00000442672.1:p.Asp323Val
5/10521 0.00024 1 Pathogenic
View 1 27056211 27056211 C > T ARID1A TRNAN-GUU ARID1A NM_139135.2:c.1207C>T
NM_006015.4:c.1207C>T
NP_624361.1:p.Gln403Ter
NP_006006.3:p.Gln403Ter
2/8685 0.00012 1 ClinVar pathogenic variant Pathogenic
View 1 27875965 27875986 del > - TRNAN-GUU AHDC1 NM_001029882.2:c.2641_2662del
NP_001025053.1:p.Ala881SerfsTer44
1/8685 6.0e-05 1 frameshift Pathogenic
View 1 27876486 27876486 C > - TRNAN-GUU AHDC1 NM_001029882.2:c.2141del
NP_001025053.1:p.Gly714AlafsTer18
1/8685 6.0e-05 2 frameshift Pathogenic
View 1 29527025 29527026 - > A TRNAN-GUU MECR MECR NM_016011.2:c.830+2dupT
NM_001024732.1:c.602+2dupT
2/8646 0.00012 1 Pathogenic
View 1 40542587 40542587 T > A TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.418-2A>T
NM_000310.3:c.727-2A>T
5/10521 0.00024 1 Pathogenic
View 1 40555167 40555167 G > A TRNAN-GUU PPT1 PPT1 NM_001142604.1:c.142C>T
NM_000310.3:c.451C>T
NP_001136076.1:p.Arg48Ter
NP_000301.1:p.Arg151Ter
15/10521 0.00071 1 Pathogenic
View 1 43221287 43221287 G > A P3H1 TRNAN-GUU P3H1 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
1/10521 5.0e-05 1 Pathogenic
View 1 43395556 43395556 G > A TRNAN-GUU SLC2A1 NM_006516.2:c.667C>T
NP_006507.2:p.Arg223Trp
1/8685 6.0e-05 1 Pathogenic
View 1 43914060 43914060 C > T TRNAN-GUU SZT2 NM_015284.3:c.9703C>T
NP_056099.3:p.Arg3235Ter
4/8685 0.00023 1 Pathogenic
View 1 45973216 45973217 - > A TRNAN-GUU MMACHC NM_015506.2:c.271dupA
NP_056321.2:p.Arg91LysfsTer14
31/10521 0.00147 1 Pathogenic
View 1 45974001 45974001 C > T TRNAN-GUU MMACHC NM_015506.2:c.394C>T
NP_056321.2:p.Arg132Ter
1/10521 5.0e-05 1 Pathogenic
View 1 45974520 45974520 G > A TRNAN-GUU MMACHC NM_015506.2:c.482G>A
NP_056321.2:p.Arg161Gln
7/10521 0.00033 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
2/10521 0.0001 1 Pathogenic
View 1 47728587 47728587 G > C STIL TRNAN-GUU STIL NM_001048166.1:c.2817C>G
NM_003035.2:c.2814C>G
NP_001041631.1:p.Tyr939Ter
NP_003026.2:p.Tyr938Ter
4/8685 0.00023 2 premature_stop Pathogenic
View 1 53668099 53668099 C > T TRNAN-GUU CPT2 NM_000098.2:c.338C>T
NP_000089.1:p.Ser113Leu
46/10521 0.00219 1 Pathogenic
View 1 53675716 53675716 C > T TRNAN-GUU CPT2 NM_000098.2:c.370C>T
NP_000089.1:p.Arg124Ter
4/10521 0.00019 1 Pathogenic
View 1 63868019 63868019 G > A TRNAN-GUU ALG6 NM_013339.3:c.257+5G>A
19/10521 0.00095 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
73/10521 0.00347 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
10/10482 0.00048 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
2/10521 0.0001 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
6/10521 0.00029 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
1/10521 5.0e-05 1 ClinVar pathogenic variant Pathogenic
View 1 76226829 76226829 T > C TRNAN-GUU ACADM ACADM NM_000016.4:c.968T>C
NM_001127328.1:c.980T>C
NP_000007.1:p.Leu323Pro
NP_001120800.1:p.Leu327Pro
1/10521 5.0e-05 1 non_synonymous 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
135/10521 0.00656 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
1/10521 5.0e-05 1 Pathogenic
View 1 97915614 97915614 C > T DPYD TRNAN-GUU ENST00000370192.3:c.1905+1G>A
105/10962 0.00479 1 Pathogenic
View 1 109441560 109441560 C > - TRNAN-GUU GPSM2 NM_013296.4:c.742del
NP_037428.3:p.Gly249GlufsTer32
4/8685 0.00023 1 Pathogenic
View 1 109465069 109465069 G > - TRNAN-GUU GPSM2 NM_013296.4:c.1473del
NP_037428.3:p.Phe492SerfsTer5
2/8685 0.00012 1 Pathogenic
View 1 109465090 109465090 C > T TRNAN-GUU GPSM2 NM_013296.4:c.1492C>T
NP_037428.3:p.Arg498Ter
4/8685 0.00023 1 Pathogenic
View 1 152280023 152280023 G > A FLG NM_002016.1:c.7339C>T
NP_002007.1:p.Arg2447Ter
54/8647 0.00312 1 Pathogenic
View 1 153790590 153790590 G > A GATAD2B NM_020699.2:c.655C>T
NP_065750.1:p.Gln219Ter
1/8685 6.0e-05 1 ClinVar pathogenic variant Pathogenic
View 1 154145448 154145448 G > A TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 TPM3 NR_103461.1:n.521C>T
NM_001278188.1:c.193C>T
NM_001043353.1:c.391C>T
NM_001278189.1:c.391C>T
NM_001043352.1:c.391C>T
NM_153649.3:c.391C>T
NM_001043351.1:c.391C>T
NM_001278191.1:c.121C>T
NM_152263.3:c.502C>T
NM_001278190.1:c.391C>T
NP_001265117.1:p.Arg65Cys
NP_001036818.1:p.Arg131Cys
NP_001265118.1:p.Arg131Cys
NP_001036817.1:p.Arg131Cys
NP_705935.1:p.Arg131Cys
NP_001036816.1:p.Arg131Cys
NP_001265120.1:p.Arg41Cys
NP_689476.2:p.Arg168Cys
NP_001265119.1:p.Arg131Cys
2/8685 0.00012 1 Pathogenic
View 1 154574541 154574541 G > C ADAR ADAR ADAR ADAR ENST00000529168.1:c.562C>G
NM_001025107.2:c.-309C>G
ENST00000368474.4:c.577C>G
NM_001193495.1:c.-309C>G
ENSP00000431794.1:p.Pro188Ala
ENSP00000357459.4:p.Pro193Ala
53/8685 0.00311 1 Pathogenic
View 1 155210420 155210420 C > T GBA GBA GBA GBA GBA NM_001171812.1:c.115+1G>A
NM_001171811.1:c.-146-552G>A
NM_001005741.2:c.115+1G>A
NM_001005742.2:c.115+1G>A
NM_000157.3:c.115+1G>A
2/10521 0.0001 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
30/10521 0.00143 1 Pathogenic
View 1 155874285 155874285 A > C RIT1 RIT1 RIT1 NM_006912.5:c.246T>G
NM_001256820.1:c.138T>G
NM_001256821.1:c.297T>G
NP_008843.1:p.Phe82Leu
NP_001243749.1:p.Phe46Leu
NP_001243750.1:p.Phe99Leu
1/8685 6.0e-05 1 Pathogenic
View 1 156106776 156106776 G > A LMNA LMNA LMNA LMNA LMNA LMNA NM_001257374.1:c.1109G>A
NM_005572.3:c.1445G>A
NR_047544.1:n.2086G>A
NR_047545.1:n.1333G>A
NM_170707.3:c.1445G>A
NM_170708.3:c.1445G>A
NP_001244303.1:p.Arg370Gln
NP_005563.1:p.Arg482Gln
NP_733821.1:p.Arg482Gln
NP_733822.1:p.Arg482Gln
1/9384 5.0e-05 1 Pathogenic
View 1 169519049 169519049 T > C F5 ENST00000367797.3:c.1601A>G
ENSP00000356771.3:p.Gln534Arg
8426/8731 0.94245 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Pathogenic
View 1 172411702 172411702 G > A C1orf105 PIGC PIGC NM_139240.3:c.22-2511G>A
NM_002642.3:c.61C>T
NM_153747.1:c.61C>T
NP_002633.1:p.Arg21Ter
NP_714969.1:p.Arg21Ter
4/8646 0.00023 1 Pathogenic
Displaying 1 through 50 of 521 variants