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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 1736004 1736004 A > G GNB1 NM_002074.3:c.284T>C
NP_002065.1:p.Leu95Pro
1/13105 4.0e-05 1 Pathogenic
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
2/13144 8.0e-05 1 ClinVar pathogenic variant Pathogenic
View 1 9787030 9787030 G > A PIK3CD NM_005026.3:c.3061G>A
NP_005017.3:p.Glu1021Lys
1/13144 4.0e-05 1 Pathogenic
View 1 11217230 11217230 C > A MTOR NM_004958.3:c.4448G>T
NP_004949.1:p.Cys1483Phe
1/13144 4.0e-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
5/13144 0.00019 1 Pathogenic
View 1 12059112 12059112 G > T MFN2 MFN2 NM_001127660.1:c.776G>T
NM_014874.3:c.776G>T
NP_001121132.1:p.Arg259Leu
NP_055689.1:p.Arg259Leu
1/13144 4.0e-05 1 Pathogenic
View 1 12069698 12069698 C > T MFN2 MFN2 NM_001127660.1:c.2119C>T
NM_014874.3:c.2119C>T
NP_001121132.1:p.Arg707Trp
NP_055689.1:p.Arg707Trp
20/13144 0.00087 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
2/13144 0.00011 1 curation Pathogenic
View 1 17313567 17313567 G > - TRNAN-GUU ATP13A2 ATP13A2 ATP13A2 NM_001141973.1:c.3042del
NM_001141974.1:c.2925del
NM_022089.2:c.3057del
NP_001135445.1:p.Tyr1015ThrfsTer3
NP_001135446.1:p.Tyr976ThrfsTer3
NP_071372.1:p.Tyr1020ThrfsTer3
2/13144 8.0e-05 1 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
3/14969 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
29/14969 0.00097 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
2/14969 7.0e-05 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
8/14969 0.00027 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
4/14969 0.00013 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
6/14969 0.0002 1 Pathogenic
View 1 22412956 22412956 G > A TRNAN-GUU CDC42 CDC42 CDC42 NM_001039802.1:c.203G>A
NM_044472.2:c.203G>A
NM_001791.3:c.203G>A
NP_001034891.1:p.Arg68Gln
NP_426359.1:p.Arg68Gln
NP_001782.1:p.Arg68Gln
1/13144 4.0e-05 1 Pathogenic
View 1 24130913 24130913 G > - TRNAN-GUU HMGCL HMGCL NM_001166059.1:c.640del
NM_000191.2:c.853del
NP_001159531.1:p.Leu214Ter
NP_000182.2:p.Leu285Ter
7/14969 0.00023 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
2/13144 8.0e-05 1 curation Pathogenic
View 1 27875965 27875986 del > - TRNAN-GUU AHDC1 NM_001029882.2:c.2641_2662del
NP_001025053.1:p.Ala881SerfsTer44
1/13144 4.0e-05 1 curation Pathogenic
View 1 27876486 27876486 C > - TRNAN-GUU AHDC1 NM_001029882.2:c.2141del
NP_001025053.1:p.Gly714AlafsTer18
1/13144 4.0e-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
2/11944 8.0e-05 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
7/13812 0.00025 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
17/14969 0.00057 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
1/14969 3.0e-05 1 Pathogenic
View 1 43395556 43395556 G > A TRNAN-GUU SLC2A1 NM_006516.2:c.667C>T
NP_006507.2:p.Arg223Trp
2/13144 8.0e-05 1 Pathogenic
View 1 43914060 43914060 C > T TRNAN-GUU SZT2 NM_015284.3:c.9703C>T
NP_056099.3:p.Arg3235Ter
4/13144 0.00015 1 Pathogenic
View 1 45797228 45797228 C > T TRNAN-GUU MUTYH MUTYH MUTYH MUTYH MUTYH MUTYH NM_001128425.1:c.1187G>A
NM_001048171.1:c.1145G>A
NM_012222.2:c.1178G>A
NM_001048172.1:c.1106G>A
NM_001048173.1:c.1103G>A
NM_001048174.1:c.1103G>A
NP_001121897.1:p.Gly396Asp
NP_001041636.1:p.Gly382Asp
NP_036354.1:p.Gly393Asp
NP_001041637.1:p.Gly369Asp
NP_001041638.1:p.Gly368Asp
NP_001041639.1:p.Gly368Asp
137/13144 0.00521 1 Pathogenic
View 1 45798475 45798475 T > C TRNAN-GUU MUTYH MUTYH MUTYH MUTYH MUTYH MUTYH NM_001128425.1:c.536A>G
NM_001048171.1:c.494A>G
NM_012222.2:c.527A>G
NM_001048172.1:c.455A>G
NM_001048173.1:c.452A>G
NM_001048174.1:c.452A>G
NP_001121897.1:p.Tyr179Cys
NP_001041636.1:p.Tyr165Cys
NP_036354.1:p.Tyr176Cys
NP_001041637.1:p.Tyr152Cys
NP_001041638.1:p.Tyr151Cys
NP_001041639.1:p.Tyr151Cys
51/13144 0.00194 1 Pathogenic
View 1 45973216 45973217 - > A TRNAN-GUU MMACHC NM_015506.2:c.271dupA
NP_056321.2:p.Arg91LysfsTer14
42/14969 0.0014 1 Pathogenic
View 1 45974001 45974001 C > T TRNAN-GUU MMACHC NM_015506.2:c.394C>T
NP_056321.2:p.Arg132Ter
1/14969 3.0e-05 1 Pathogenic
View 1 45974478 45974478 G > C TRNAN-GUU MMACHC NM_015506.2:c.440G>C
NP_056321.2:p.Gly147Ala
11/14969 0.00037 1 Pathogenic
View 1 45974520 45974520 G > A TRNAN-GUU MMACHC NM_015506.2:c.482G>A
NP_056321.2:p.Arg161Gln
10/14969 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
2/14969 7.0e-05 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
4/13144 0.00015 2 premature_stop Pathogenic
View 1 53668099 53668099 C > T TRNAN-GUU CPT2 NM_000098.2:c.338C>T
NP_000089.1:p.Ser113Leu
57/14969 0.0019 1 Pathogenic
View 1 53675716 53675716 C > T TRNAN-GUU CPT2 NM_000098.2:c.370C>T
NP_000089.1:p.Arg124Ter
5/14969 0.00017 1 Pathogenic
View 1 63868019 63868019 G > A TRNAN-GUU ALG6 NM_013339.3:c.257+5G>A
30/13810 0.00112 1 Pathogenic
View 1 66081746 66081746 A > C LEPR TRNAN-GUU LEPR LEPR LEPR LEPR LEPR NM_001198687.1:c.2051A>C
NM_001198688.1:c.2051A>C
NM_001198689.1:c.2051A>C
NM_001003680.3:c.2051A>C
NM_001003679.3:c.2051A>C
NM_002303.5:c.2051A>C
NP_001185616.1:p.His684Pro
NP_001185617.1:p.His684Pro
NP_001185618.1:p.His684Pro
NP_001003680.1:p.His684Pro
NP_001003679.1:p.His684Pro
NP_002294.2:p.His684Pro
2/13144 8.0e-05 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
95/14969 0.00317 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
14/13773 0.00051 1 curation 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
2/14969 7.0e-05 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
6/14969 0.0002 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
1/13810 4.0e-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
1/14969 3.0e-05 1 curation 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
189/14969 0.00641 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
1/14969 3.0e-05 1 Pathogenic
View 1 97915614 97915614 C > T DPYD TRNAN-GUU ENST00000370192.3:c.1905+1G>A
141/14447 0.00491 1 Pathogenic
View 1 103435774 103435774 C > A COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 NM_080629.2:c.2898+1G>T
NM_001854.3:c.2862+1G>T
NM_001190709.1:c.2745+1G>T
NM_080630.3:c.2514+1G>T
2/11983 8.0e-05 1 curation Pathogenic
View 1 109441560 109441560 C > - TRNAN-GUU GPSM2 NM_013296.4:c.742del
NP_037428.3:p.Gly249GlufsTer32
4/13144 0.00015 1 Pathogenic
View 1 109465069 109465069 G > - TRNAN-GUU GPSM2 NM_013296.4:c.1473del
NP_037428.3:p.Phe492SerfsTer5
2/13144 8.0e-05 1 Pathogenic
Displaying 1 through 50 of 878 variants