All variants in the HEPH gene

Information The variants shown are described using the NM_138737.3 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 c.96C>A r.(?) p.(=) - VUS g.65382665C>A g.66162823C>A I32I - HEPH_000038 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.305C>T r.(?) p.(Thr102Met) - VUS g.65390555C>T g.66170713C>T HEPH(NM_001130860.2):c.152C>T (p.(Thr51Met)) - HEPH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.329+157G>A r.(=) p.(=) - VUS g.65390736G>A g.66170894G>A - - HEPH_000018 - - - - Germline - - - - - Yu Sun
?/. - c.329+157G>A r.(=) p.(=) - VUS g.65390736G>A g.66170894G>A - - HEPH_000018 - - - - Germline - - - - - Yu Sun
-?/. - c.396T>C r.(?) p.(Tyr132=) - likely benign g.65392263T>C g.66172421T>C HEPH(NM_138737.4):c.396T>C (p.Y132=) - HEPH_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.406A>G r.(?) p.(Lys136Glu) - likely benign g.65392273A>G g.66172431A>G HEPH(NM_001130860.2):c.253A>G (p.(Lys85Glu)) - HEPH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.754G>T r.(?) p.(Gly252Cys) - VUS g.65393610G>T - HEPH(NM_138737.4):c.754G>T (p.G252C) - HEPH_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.787+15A>G r.(=) p.(=) - VUS g.65393658A>G g.66173816= - - HEPH_000011 - - - - Germline - - - - - Yu Sun
?/. - c.787+15A>G r.(=) p.(=) - VUS g.65393658A>G g.66173816= - - HEPH_000011 - - - - Germline - - - - - Yu Sun
?/. 6 c.1068C>A r.(?) p.(=) - VUS g.65409623C>A - G356G - HEPH_000039 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1195A>G r.(?) p.(Ile399Val) - likely benign g.65409750A>G g.66189908A>G HEPH(NM_001130860.2):c.1042A>G (p.(Ile348Val)) - HEPH_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1234C>G r.(?) p.(Gln412Glu) - likely benign g.65411980C>G g.66192138C>G HEPH(NM_138737.4):c.1234C>G (p.Q412E) - HEPH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1505A>G r.(?) p.(Glu502Gly) - likely benign g.65413454A>G g.66193612A>G HEPH(NM_138737.4):c.1505A>G (p.E502G) - HEPH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 8 c.1531C>T r.(?) P511S - VUS g.65413480C>T - P511S - HEPH_000040 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1715G>A r.(?) p.(Arg572His) - likely benign g.65417576G>A g.66197734G>A HEPH(NM_138737.4):c.1715G>A (p.R572H) - HEPH_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 10 c.1783G>A r.(?) A595T - VUS g.65417644G>A - A595T - HEPH_000041 recurrent, found 8 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 8/208 cases - 0 - Lucy Raymond
-/. - c.1858G>A r.(?) p.(Gly620Ser) - benign g.65417719G>A g.66197877G>A HEPH(NM_001130860.2):c.1705G>A (p.(Gly569Ser)), HEPH(NM_138737.4):c.1858G>A (p.G620S) - HEPH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1858G>A r.(?) p.(Gly620Ser) - likely benign g.65417719G>A g.66197877G>A HEPH(NM_001130860.2):c.1705G>A (p.(Gly569Ser)), HEPH(NM_138737.4):c.1858G>A (p.G620S) - HEPH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1864G>C r.(?) p.(Asp622His) - likely benign g.65417725G>C g.66197883G>C HEPH(NM_138737.4):c.1864G>C (p.D622H) - HEPH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2167G>A r.(?) p.(Gly723Ser) - VUS g.65420522G>A g.66200680G>A HEPH(NM_138737.4):c.2167G>A (p.G723S) - HEPH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2239+15A>G r.(=) p.(=) - VUS g.65420609A>G g.66200767A>G - - HEPH_000012 - - - - Germline - - - - - Yu Sun
?/. - c.2239+15A>G r.(=) p.(=) - VUS g.65420609A>G g.66200767A>G - - HEPH_000012 - - - - Germline - - - - - Yu Sun
?/. - c.2245T>C r.(?) p.(Phe749Leu) - VUS g.65423211T>C g.66203369T>C HEPH(NM_138737.4):c.2245T>C (p.F749L) - HEPH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2251A>C r.(?) p.(Ile751Leu) - VUS g.65423217A>C g.66203375A>C HEPH(NM_001130860.2):c.2098A>C (p.(Ile700Leu)) - HEPH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2270G>A r.(?) p.(Ser757Asn) - VUS g.65423236G>A g.66203394G>A - - HEPH_000026 - - - - Germline - - - 0 - Karine Poirier
?/. 13 c.2295T>C r.(?) p.(=) - VUS g.65423261T>C - Y765Y - HEPH_000042 recurrent, found 44 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 44/208 cases - 0 - Lucy Raymond
?/. - c.2338C>T r.(?) p.(Arg780Cys) - VUS g.65423304C>T g.66203462C>T HEPH(NM_138737.4):c.2338C>T (p.R780C) - HEPH_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2339G>A r.(?) p.(Arg780His) - likely benign g.65423305G>A - HEPH(NM_001367242.1):c.1376G>A (p.R459H) - HEPH_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 13 c.2379A>G r.(?) T793T - VUS g.65423345A>G g.66203503A>G T793T - HEPH_000043 recurrent, found 43 times; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 43/208 cases - 0 - Lucy Raymond
-?/. - c.2423G>A r.(?) p.(Arg808Gln) - likely benign g.65423389G>A g.66203547G>A HEPH(NM_138737.4):c.2423G>A (p.R808Q) - HEPH_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2693C>G r.(?) p.(Ser898Cys) - likely benign g.65428056C>G g.66208214C>G HEPH(NM_001130860.2):c.2540C>G (p.(Ser847Cys)) - HEPH_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2726-103C>T r.(=) p.(=) - VUS g.65474774C>T g.66254932C>T - - HEPH_000013 - - - - Germline - - - - - Yu Sun
?/. - c.2726-103C>T r.(=) p.(=) - VUS g.65474774C>T g.66254932C>T - - HEPH_000013 - - - - Germline - - - - - Yu Sun
?/. - c.2832+251del r.(=) p.(=) - VUS g.65475234del g.66255392del - - HEPH_000023 - - - - Germline - - - - - Yu Sun
?/. - c.2832+251del r.(=) p.(=) - VUS g.65475234del g.66255392del - - HEPH_000023 - - - - Germline - - - - - Yu Sun
?/. 17 c.3042C>T r.(?) p.(=) - VUS g.65476156C>T - G1014G - HEPH_000044 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.3130A>G r.(?) p.(Met1044Val) - VUS g.65478753A>G g.66258911A>G HEPH(NM_138737.4):c.3130A>G (p.M1044V) - HEPH_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3198+104dup r.(=) p.(=) - VUS g.65478925dup g.66259083dup - - HEPH_000015 - - - - Germline - - - - - Yu Sun
?/. - c.3198+104dup r.(=) p.(=) - VUS g.65478925dup g.66259083dup - - HEPH_000025 - - - - Germline - - - - - Yu Sun
?/. - c.3198+104dup r.(=) p.(=) - VUS g.65478925dup g.66259083dup - - HEPH_000015 - - - - Germline - - - - - Yu Sun
?/. - c.3198+104dup r.(=) p.(=) - VUS g.65478925dup g.66259083dup - - HEPH_000025 - - - - Germline - - - - - Yu Sun
?/. - c.3215G>A r.(?) p.(Arg1072Gln) - VUS g.65479958G>A g.66260116G>A HEPH(NM_138737.4):c.3215G>A (p.R1072Q) - HEPH_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 19 c.3247G>T r.(?) V1083L - VUS g.65479990G>T - V1083L - HEPH_000045 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.3361+238A>G r.(=) p.(=) - VUS g.65480342A>G g.66260500A>G - - HEPH_000016 - - - - Germline - - - - - Yu Sun
?/. - c.3361+238A>G r.(=) p.(=) - VUS g.65480342A>G g.66260500A>G - - HEPH_000016 - - - - Germline - - - - - Yu Sun
-?/. - c.3398C>T r.(?) p.(Thr1133Ile) - likely benign g.65483522C>T g.66263680C>T HEPH(NM_138737.4):c.3398C>T (p.T1133I) - HEPH_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3407-110C>T r.(=) p.(=) - VUS g.65486172C>T g.66266330C>T - - HEPH_000017 - - - - Germline - - - - - Yu Sun
?/. - c.3407-110C>T r.(=) p.(=) - VUS g.65486172C>T g.66266330C>T - - HEPH_000017 - - - - Germline - - - - - Yu Sun
-?/. - c.3409G>T r.(?) p.(Val1137Leu) - likely benign g.65486284G>T g.66266442G>T HEPH(NM_001130860.2):c.3254-1G>T (p.?) - HEPH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3421G>T r.(?) p.(Asp1141Tyr) - likely benign g.65486296G>T g.66266454G>T HEPH(NM_138737.4):c.3421G>T (p.D1141Y) - HEPH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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