Full data view for gene XPC

Information The variants shown are described using the NM_004628.4 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-303T>C r.(?) p.(=) Unknown - likely benign g.14220371A>G g.14178871A>G LSM3(NM_014463.2):c.11A>G (p.(Asp4Gly)) - LSM3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.101_103del r.(?) p.(Glu34del) Unknown - benign g.14219979_14219981del - - - LSM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.142C>T r.(?) p.(Leu48Phe) Unknown - benign g.14214524G>A g.14173024G>A XPC(NM_001145769.1):c.142C>T (p.(Leu48Phe)), XPC(NM_004628.4):c.142C>T (p.L48F) - XPC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.142C>T r.(?) p.(Leu48Phe) Unknown - likely benign g.14214524G>A g.14173024G>A XPC(NM_001145769.1):c.142C>T (p.(Leu48Phe)), XPC(NM_004628.4):c.142C>T (p.L48F) - XPC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142C>T r.(?) p.(Leu48Phe) Parent #1 - likely benign g.14214524G>A g.14173024G>A - - XPC_000015 78 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229089 Germline - 78/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 78 Mohammed Faruq
-/. - c.300G>A r.(?) p.(Arg100=) Unknown - benign g.14212050C>T g.14170550C>T XPC(NM_004628.4):c.300G>A (p.R100=) - XPC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.303C>T r.(?) p.(Asp101=) Unknown - likely benign g.14212047G>A g.14170547G>A XPC(NM_004628.4):c.303C>T (p.D101=) - XPC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.350C>T r.(?) p.(Thr117Ile) Unknown - likely benign g.14212000G>A - XPC(NM_001145769.1):c.350C>T (p.(Thr117Ile)) - XPC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.420_423del r.(?) p.(Glu141LeufsTer6) Unknown - pathogenic g.14209872_14209875del g.14168372_14168375del XPC(NM_004628.4):c.420_423del (p.(Glu141LeufsTer6)), XPC(NM_004628.4):c.420_423delTGAG (p.E141Lfs*6) - XPC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.420_423del r.(?) p.(Glu141LeufsTer6) Unknown - pathogenic g.14209872_14209875del g.14168372_14168375del XPC(NM_004628.4):c.420_423del (p.(Glu141LeufsTer6)), XPC(NM_004628.4):c.420_423delTGAG (p.E141Lfs*6) - XPC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.622-16C>G r.(=) p.(=) Unknown - benign g.14207101G>C g.14165601G>C XPC(NM_004628.4):c.622-16C>G - XPC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.622-2A>G r.spl? p.? Unknown - pathogenic g.14207087T>C g.14165587T>C XPC(NM_004628.4):c.622-2A>G - XPC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.622-2A>G r.spl? p.? Unknown - pathogenic g.14207087T>C g.14165587T>C XPC(NM_004628.4):c.622-2A>G - XPC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658C>T r.(?) p.(Arg220Ter) Unknown - VUS g.14207049G>A g.14165549G>A XPC(NM_004628.4):c.658C>T (p.R220*) - XPC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.749A>G r.(?) p.(Asp250Gly) Unknown - VUS g.14206958T>C g.14165458T>C XPC(NM_004628.4):c.749A>G (p.D250G) - XPC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.860T>G r.(?) p.(Phe287Cys) Unknown - benign g.14206353A>C g.14164853A>C XPC(NM_001145769.1):c.749T>G (p.(Phe250Cys)), XPC(NM_004628.4):c.860T>G (p.F287C) - XPC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860T>G r.(?) p.(Phe287Cys) Unknown - likely benign g.14206353A>C g.14164853A>C XPC(NM_001145769.1):c.749T>G (p.(Phe250Cys)), XPC(NM_004628.4):c.860T>G (p.F287C) - XPC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.872C>G r.(?) p.(Ser291Cys) Unknown - benign g.14206341G>C g.14164841G>C XPC(NM_004628.4):c.872C>G (p.S291C) - XPC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.990+10G>A r.(=) p.(=) Unknown - likely benign g.14201231C>T g.14159731C>T XPC(NM_004628.4):c.990+10G>A - XPC_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1001C>A r.(?) p.(Pro334His) Unknown - VUS g.14200382G>T g.14158882G>T XPC(NM_004628.4):c.1001C>A (p.P334H) - XPC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1049C>A r.(?) p.(Ser350Tyr) Unknown - likely benign g.14200334G>T g.14158834G>T XPC(NM_001145769.1):c.938C>A (p.(Ser313Tyr)) - XPC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1178G>A r.(?) p.(Arg393Gln) Unknown - likely benign g.14200205C>T g.14158705C>T XPC(NM_004628.4):c.1178G>A (p.R393Q) - XPC_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1362T>C r.(?) p.(Asp454=) Unknown - benign g.14200021A>G g.14158521A>G XPC(NM_004628.4):c.1362T>C (p.D454=) - XPC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1455G>T r.(?) p.(Arg485Ser) Unknown - likely benign g.14199928C>A g.14158428C>A XPC(NM_004628.4):c.1455G>T (p.R485S) - XPC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1474C>T r.(?) p.(Arg492Cys) Unknown - VUS g.14199909G>A g.14158409G>A XPC(NM_004628.4):c.1474C>T (p.R492C) - XPC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1495G>A r.(?) p.(Ala499Thr) Unknown - likely benign g.14199888C>T g.14158388C>T XPC(NM_004628.4):c.1495G>A (p.A499T) - XPC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1497G>A r.(?) p.(Ala499=) Unknown - likely benign g.14199886C>T g.14158386C>T XPC(NM_004628.4):c.1497G>A (p.A499=) - XPC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1531A>C r.(?) p.(Lys511Gln) Unknown - VUS g.14199852T>G g.14158352T>G XPC(NM_004628.4):c.1531A>C (p.K511Q) - XPC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569A>C r.(?) p.(Arg523Ser) Unknown - likely benign g.14199814T>G - XPC(NM_004628.4):c.1569A>C (p.R523S) - XPC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1643_1644del r.(?) p.(Val548AlafsTer25) Unknown - pathogenic g.14199743_14199744del g.14158243_14158244del XPC(NM_004628.4):c.1643_1644delTG (p.V548Afs*25) - XPC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1643_1644del r.(?) p.(Val548AlafsTer25) Unknown - pathogenic g.14199743_14199744del g.14158243_14158244del XPC(NM_004628.4):c.1643_1644delTG (p.V548Afs*25) - XPC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1780C>T r.(?) p.(Arg594Cys) Unknown - VUS g.14199603G>A g.14158103G>A XPC(NM_004628.4):c.1780C>T (p.R594C) - XPC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1841T>C r.(?) p.(Phe614Ser) Unknown - benign g.14199542A>G g.14158042A>G XPC(NM_004628.4):c.1841T>C (p.F614S) - XPC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1881= r.(=) p.(Ala627=) Unknown - benign g.14197987A>T g.14156487A>T XPC(NM_004628.4):c.1881T>A (p.A627=) - XPC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1941T>A r.(?) p.(Tyr647Ter) Unknown - pathogenic g.14197927A>T g.14156427A>T - - XPC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2028C>T r.(?) p.(Tyr676=) Unknown - benign g.14197840G>A g.14156340G>A XPC(NM_004628.4):c.2028C>T (p.Y676=) - XPC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2028C>T r.(?) p.(Tyr676=) Unknown - benign g.14197840G>A g.14156340G>A XPC(NM_004628.4):c.2028C>T (p.Y676=) - XPC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2115+17G>T r.(=) p.(=) Unknown - likely benign g.14193818C>A g.14152318C>A XPC(NM_004628.4):c.2115+17G>T - XPC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2115+18dup r.(=) p.(=) Unknown - likely benign g.14193822dup g.14152322dup XPC(NM_004628.4):c.2115+18dupG - XPC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2232A>C r.(?) p.(Pro744=) Unknown - likely benign g.14190332T>G g.14148832T>G XPC(NM_004628.4):c.2232A>C (p.P744=) - XPC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2251-8C>T r.(=) p.(=) Unknown - likely benign g.14190239G>A g.14148739G>A XPC(NM_004628.4):c.2251-8C>T - XPC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2312G>A r.(?) p.(Cys771Tyr) Unknown - VUS g.14190170C>T g.14148670C>T XPC(NM_004628.4):c.2312G>A (p.C771Y) - TMEM43_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2331C>A r.(?) p.(Pro777=) Unknown - likely benign g.14190151G>T g.14148651G>T XPC(NM_004628.4):c.2331C>A (p.P777=) - TMEM43_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2404G>A r.(?) p.(Gly802Ser) Unknown - VUS g.14190078C>T g.14148578C>T XPC(NM_004628.4):c.2404G>A (p.G802S) - TMEM43_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2420+5G>A r.spl? p.? Unknown - VUS g.14190057C>T g.14148557C>T XPC(NM_004628.4):c.2420+5G>A - XPC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2443G>A r.(?) p.(Glu815Lys) Unknown - VUS g.14189479C>T g.14147979C>T XPC(NM_004628.4):c.2443G>A (p.E815K) - TMEM43_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2514+6C>T r.(=) p.(=) Unknown - likely benign g.14189402G>A g.14147902G>A XPC(NM_004628.4):c.2514+6C>T - TMEM43_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2782A>C r.(?) p.(Lys928Gln) Unknown - likely benign g.14187482T>G g.14145982T>G XPC(NM_004628.4):c.2782A>C (p.K928Q) - XPC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4031A>G r.(=) p.(=) Unknown - benign g.14183410T>C g.14141910T>C - - TMEM43_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4115A>G r.(=) p.(=) Unknown - likely benign g.14183326T>C g.14141826T>C - - TMEM43_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4129C>T r.(=) p.(=) Unknown - VUS g.14183312G>A g.14141812G>A TMEM43(NM_024334.2):c.*17G>A - TMEM43_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4130G>A r.(=) p.(=) Unknown - benign g.14183311C>T g.14141811C>T TMEM43(NM_024334.2):c.*16C>T - TMEM43_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4130G>A r.(=) p.(=) Unknown - benign g.14183311C>T g.14141811C>T TMEM43(NM_024334.2):c.*16C>T - TMEM43_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4130G>A r.(=) p.(=) Unknown - benign g.14183311C>T g.14141811C>T TMEM43(NM_024334.2):c.*16C>T - TMEM43_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4138G>A r.(=) p.(=) Unknown - benign g.14183303C>T g.14141803C>T TMEM43(NM_024334.2):c.*8C>T - TMEM43_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4164T>C r.(=) p.(=) Unknown - likely benign g.14183277A>G g.14141777A>G TMEM43(NM_024334.2):c.1185A>G (p.P395=) - TMEM43_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4171C>T r.(=) p.(=) Unknown - VUS g.14183270G>A g.14141770G>A TMEM43(NM_024334.2):c.1178G>A (p.R393Q, p.(Arg393Gln)) - TMEM43_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4171C>T r.(=) p.(=) Unknown - likely benign g.14183270G>A g.14141770G>A TMEM43(NM_024334.2):c.1178G>A (p.R393Q, p.(Arg393Gln)) - TMEM43_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4172G>A r.(=) p.(=) Unknown - likely benign g.14183269C>T g.14141769C>T - - TMEM43_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4199G>A r.(=) p.(=) Unknown - likely benign g.14183242C>T g.14141742C>T TMEM43(NM_024334.2):c.1150C>T (p.L384F) - TMEM43_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4208C>T r.(=) p.(=) Unknown - likely benign g.14183233G>A g.14141733G>A TMEM43(NM_024334.2):c.1141G>A (p.G381S) - TMEM43_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4209G>A r.(=) p.(=) Unknown - likely benign g.14183232C>T g.14141732C>T TMEM43(NM_024334.2):c.1140C>T (p.A380=) - TMEM43_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4209G>A r.(=) p.(=) Unknown - likely benign g.14183232C>T g.14141732C>T TMEM43(NM_024334.2):c.1140C>T (p.A380=) - TMEM43_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4228_*4229del r.(=) p.(=) Unknown - VUS g.14183212_14183213del g.14141712_14141713del TMEM43(NM_024334.2):c.1120_1121delCT (p.L374Vfs*49) - TMEM43_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*4237T>C r.(=) p.(=) Unknown - VUS g.14183204A>G g.14141704A>G TMEM43(NM_024334.2):c.1112A>G (p.Y371C) - TMEM43_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4238A>G r.(=) p.(=) Unknown - benign g.14183203T>C g.14141703T>C TMEM43(NM_024334.2):c.1111T>C (p.Y371H) - TMEM43_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4238A>G r.(=) p.(=) Unknown - benign g.14183203T>C g.14141703T>C TMEM43(NM_024334.2):c.1111T>C (p.Y371H) - TMEM43_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4238A>G r.(=) p.(=) Unknown - likely benign g.14183203T>C g.14141703T>C TMEM43(NM_024334.2):c.1111T>C (p.Y371H) - TMEM43_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4244G>A r.(=) p.(=) Unknown - likely benign g.14183197C>T g.14141697C>T TMEM43(NM_024334.2):c.1105C>T (p.L369F) - TMEM43_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4244G>A r.(=) p.(=) Unknown - likely benign g.14183197C>T - TMEM43(NM_024334.2):c.1105C>T (p.L369F) - TMEM43_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4253C>T r.(=) p.(=) Unknown - benign g.14183188G>A g.14141688G>A TMEM43(NM_024334.2):c.1096G>A (p.A366T) - TMEM43_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4253C>T r.(=) p.(=) Unknown - likely benign g.14183188G>A g.14141688G>A TMEM43(NM_024334.2):c.1096G>A (p.A366T) - TMEM43_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4253C>T r.(=) p.(=) Unknown - benign g.14183188G>A g.14141688G>A TMEM43(NM_024334.2):c.1096G>A (p.A366T) - TMEM43_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*4253C>T r.(=) p.(=) Unknown - benign g.14183188G>A g.14141688G>A TMEM43(NM_024334.2):c.1096G>A (p.A366T) - TMEM43_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4275C>T r.(=) p.(=) Unknown - likely benign g.14183166G>A g.14141666G>A TMEM43(NM_024334.2):c.1074G>A (p.S358=) - TMEM43_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*4276G>A r.(=) p.(=) Unknown - pathogenic g.14183165C>T g.14141665C>T TMEM43(NM_024334.2):c.1073C>T (p.S358L) - TMEM43_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4276G>A r.(=) p.(=) Unknown - VUS g.14183165C>T g.14141665C>T TMEM43(NM_024334.2):c.1073C>T (p.S358L) - TMEM43_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4288C>G r.(=) p.(=) Unknown - likely benign g.14183153G>C g.14141653G>C TMEM43(NM_024334.2):c.1061G>C (p.C354S) - TMEM43_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4288C>G r.(=) p.(=) Unknown - likely benign g.14183153G>C g.14141653G>C TMEM43(NM_024334.2):c.1061G>C (p.C354S) - TMEM43_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4288C>G r.(=) p.(=) Unknown - likely benign g.14183153G>C g.14141653G>C TMEM43(NM_024334.2):c.1061G>C (p.C354S) - TMEM43_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4291A>G r.(=) p.(=) Unknown - VUS g.14183150T>C g.14141650T>C TMEM43(NM_024334.2):c.1058T>C (p.F353S) - TMEM43_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*4291A>G r.(=) p.(=) Unknown - VUS g.14183150T>C g.14141650T>C TMEM43(NM_024334.2):c.1058T>C (p.F353S) - TMEM43_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*4318A>C r.(=) p.(=) Unknown - VUS g.14183123T>G g.14141623T>G - - TMEM43_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*4356A>T r.(=) p.(=) Unknown - benign g.14183085T>A g.14141585T>A TMEM43(NM_024334.2):c.1001-8T>A - TMEM43_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query