Full data view for gene STIM1

Information The variants shown are described using the NM_001277961.1 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
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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.91G>C r.(?) p.(Ala31Pro) Unknown - likely benign g.3877591G>C g.3856361G>C STIM1(NM_001277961.1):c.91G>C (p.A31P) - STIM1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105C>T r.(?) p.(Ser35=) Unknown - likely benign g.3877605C>T - STIM1(NM_001277961.1):c.105C>T (p.S35=) - STIM1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108G>A r.(?) p.(=) Unknown - likely benign g.3877608G>A - STIM1(NM_001382569.1):c.104G>A (p.(Arg35Gln)) - STIM1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139+36222T>G r.(=) p.(=) Both (homozygous) - likely benign g.3913861T>G g.3892631T>G - - STIM1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.201A>G r.(?) p.(=) Unknown - likely benign g.3988843A>G - STIM1(NM_001277961.1):c.201A>G (p.A67=) - STIM1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.216C>A r.(?) p.(His72Gln) Unknown - pathogenic (dominant) g.3988858C>A g.3967628C>A - - STIM1_000020 - PubMed: Morin 2019 - - Germline yes - - - - DNA SEQ-NG - - TAM1 1.II.2 PubMed: Morin 2019 - M no France - - - - - 1 Johann Böhm
+/+ 2 c.216C>G r.(?) p.(His72Gln) Unknown - pathogenic g.3988858C>G g.3967628C>A - - STIM1_000031 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Bohm 2013 - - Germline yes - - - - DNA SEQ-NG-I - - TAM1 - - - M no France - - - - - 1 Johann Böhm
+/+ 2 c.239A>C r.(?) p.(Asn80Thr) Unknown - pathogenic g.3988881A>C g.3967651A>C - - STIM1_000032 - PubMed: Bohm 2014 - - De novo yes - - - - DNA SEQ - - TAM1 - PubMed: Bohm 2014 - M yes Italy - - - - - 1 Johann Böhm
+/+ 2 c.242G>A r.(?) p.(Gly81Asp) Unknown - pathogenic (dominant) g.3988884G>A g.3967654G>A - - STIM1_000033 - PubMed: Walter 2015 - - Germline yes - - - - DNA SEQ - - TAM1 I.1 PubMed: Walter 2015 - M no Germany - - - - - 1 Johann Böhm
+/+ 2 c.251A>G r.(?) p.(Asp84Gly) Unknown - pathogenic (dominant) g.3988893A>G g.3967663A>G - - STIM1_000036 - PubMed: Böhm 2013 - - Germline yes - - - - DNA SEQ-NG-I Blood - TAM1 Fam1PatII1 PubMed: Böhm 2013 - M no - - - - - - 1 Johann Böhm
+/+ 2 c.252T>A r.(?) p.(Asp84Glu) Unknown - pathogenic (dominant) g.3988894T>A g.3967664T>A - - STIM1_000037 - PubMed: Noury 2017 - - De novo yes - - - - DNA SEQ Blood - TAM1 - PubMed: Noury 2017 - F no Portugal - - - - - 1 Johann Böhm
+?/. - c.262A>G r.(?) p.(Ser88Gly) Unknown - likely pathogenic g.3988904A>G - - - STIM1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262A>G r.(?) p.(Ser88Gly) Unknown ACMG likely pathogenic (dominant) g.3988904A>G g.3967674A>G - - STIM1_000042 - - - - De novo - - - - - DNA SEQ-NG-I - WGS TAM1 - Pending - F - France - - - - - 1 Camille Verebi
?/. - c.270+4945C>T r.(=) p.(=) Both (homozygous) - VUS g.3993857C>T g.3972627C>T - - STIM1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.270+4945C>T r.(=) p.(=) Both (homozygous) - VUS g.3993857C>T g.3972627C>T - - STIM1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.270+21826G>A r.(=) p.(=) Both (homozygous) - VUS g.4010738G>A g.3989508G>A - - STIM1_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.271-3C>T r.spl? p.? Unknown - likely benign g.4045100C>T g.4023870C>T STIM1(NM_001277961.1):c.271-3C>T, STIM1(NM_003156.3):c.271-3C>T - STIM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271-3C>T r.spl? p.? Unknown - likely benign g.4045100C>T g.4023870C>T STIM1(NM_001277961.1):c.271-3C>T, STIM1(NM_003156.3):c.271-3C>T - STIM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.274C>G r.(?) p.(Leu92Val) Unknown - likely pathogenic g.4045106C>G g.4023876C>G - - STIM1_000018 - - - - De novo - - - - - DNA SEQ-NG-I - - TAM1 - - - F ? Italy - - - - - 1 Johann Böhm
-?/. - c.285C>T r.(?) p.(=) Unknown - likely benign g.4045117C>T - STIM1(NM_001277961.1):c.285C>T (p.D95=) - STIM1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.293A>G r.(?) p.(Tyr98Cys) Unknown - likely pathogenic g.4045125A>G g.4023895A>G - - STIM1_000019 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - TAM1 - - - F yes Eritrea - - - - - 1 Johann Böhm
+/. - c.326A>G r.(?) p.(His109Arg) Unknown - pathogenic g.4045158A>G - - - STIM1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375G>A r.(?) p.(Lys125=) Unknown - likely benign g.4045207G>A - STIM1(NM_001277961.1):c.375G>A (p.K125=) - STIM1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.381dup r.(?) p.(Glu128Argfs*9) Both (homozygous) - pathogenic (recessive) g.4045213dup g.4023983dup - - STIM1_000029 - PubMed: Picard 2009 - - Germline yes - - - - DNA SEQ - - IMD FamPatV1 PubMed: Picard 2009 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives F yes France - 9y - - - 3 Johan den Dunnen
+/. - c.381dup r.(?) p.(Glu128Argfs*9) Both (homozygous) - pathogenic (recessive) g.4045213dup g.4023983dup - - STIM1_000029 - PubMed: Picard 2009 - - Germline yes - - - - DNA SEQ - - IMD FamPatV7 PubMed: Picard 2009 - M yes France - - - - - 1 Johan den Dunnen
-/. - c.385+12C>T r.(=) p.(=) Unknown - benign g.4045229C>T - STIM1(NM_001277961.1):c.385+12C>T (p.(=)) - STIM1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409G>A r.(?) p.(Val137Met) Unknown - VUS g.4076779G>A - STIM1(NM_001382567.1):c.409G>A (p.(Val137Met)) - STIM1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Glu152Lys) Unknown - VUS g.4076824G>A - STIM1(NM_001277961.1):c.454G>A (p.E152K), STIM1(NM_003156.4):c.454G>A (p.E152K) - STIM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454G>A r.(?) p.(Glu152Lys) Unknown - VUS g.4076824G>A - STIM1(NM_001277961.1):c.454G>A (p.E152K), STIM1(NM_003156.4):c.454G>A (p.E152K) - STIM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458C>T r.(?) p.(Thr153Ile) Unknown - VUS g.4076828C>T - STIM1(NM_001277961.1):c.458C>T (p.T153I) - STIM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488C>A r.(?) p.(Ala163Asp) Unknown - likely benign g.4076858C>A g.4055628C>A STIM1(NM_001277961.1):c.488C>A (p.A163D), STIM1(NM_001382567.1):c.488C>A (p.(Ala163Asp)), STIM1(NM_003156.4):c.488C>A (p.A163D) - STIM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488C>A r.(?) p.(Ala163Asp) Unknown - VUS g.4076858C>A - STIM1(NM_001277961.1):c.488C>A (p.A163D), STIM1(NM_001382567.1):c.488C>A (p.(Ala163Asp)), STIM1(NM_003156.4):c.488C>A (p.A163D) - STIM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.488C>A r.(?) p.(Ala163Asp) Unknown - likely benign g.4076858C>A - STIM1(NM_001277961.1):c.488C>A (p.A163D), STIM1(NM_001382567.1):c.488C>A (p.(Ala163Asp)), STIM1(NM_003156.4):c.488C>A (p.A163D) - STIM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507C>T r.(?) p.(=) Unknown - likely benign g.4080520C>T - STIM1(NM_001277961.1):c.507C>T (p.V169=) - STIM1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>A r.(?) p.(Thr170=) Unknown - likely benign g.4080523C>A - STIM1(NM_001277961.1):c.510C>A (p.T170=) - STIM1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524C>T r.(?) p.(Thr175Ile) Unknown - VUS g.4080537C>T - STIM1(NM_003156.4):c.524C>T (p.T175I) - STIM1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.570G>T r.(?) p.(Leu190=) Unknown - benign g.4080583G>T g.4059353G>T STIM1(NM_003156.3):c.570G>T (p.L190=) - STIM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>A r.(=) p.(=) Parent #1 - likely benign g.4080610C>A g.4059380C>A - - STIM1_000039 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs189905382 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.614-16C>G r.(=) p.(=) Unknown - likely benign g.4091240C>G - STIM1(NM_001277961.1):c.614-16C>G - STIM1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.732G>T r.(?) p.(Met244Ile) Unknown - VUS g.4091374G>T - STIM1(NM_001277961.1):c.732G>T (p.M244I) - STIM1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.791+7C>T r.(=) p.(=) Unknown - likely benign g.4091440C>T - STIM1(NM_001277961.1):c.791+7C>T (p.(=)) - STIM1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792-4C>A r.spl? p.? Unknown - likely benign g.4095728C>A - STIM1(NM_001277961.1):c.792-4C>A - STIM1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.861C>T r.(?) p.(Arg287=) Unknown - benign g.4095801C>T - STIM1(NM_001277961.1):c.861C>T (p.R287=) - STIM1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.910C>T r.(?) p.(Arg304Trp) Unknown - pathogenic g.4095850C>T g.4074620C>T - - STIM1_000004 functional analysis variant PubMed: Nesin 2014 - - Unknown - - - - - DNA SEQ, SEQ-NG - - STRMK - PubMed: Nesin 2014 3-generation family, 1 affected M ? United States - - - - - 1 Johan den Dunnen
+/. - c.910C>T r.(?) p.(Arg304Trp) Unknown - pathogenic g.4095850C>T g.4074620C>T - - STIM1_000004 - PubMed: Nesin 2014 - - Unknown - - - - - DNA SEQ - - STRMK - PubMed: Nesin 2014 2-generation family, 1 affected M - United States - - - - - 1 Johan den Dunnen
+/. - c.970-1G>A r.[970_1033del,969_970ins[970-88_970-2;g],969_970ins[970-101_970-2;g],970_1137del] p.? Both (homozygous) - pathogenic (recessive) g.4103413G>A g.4082183G>A c.1538-1G>A - STIM1_000030 - PubMed: Byun 2010 - - Germline - - - - - DNA RT-PCR, SEQ, SEQ-NG - WES IMD FamPatIV2 PubMed: Byun 2010 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - 2y4m - - - 1 Johan den Dunnen
?/. - c.974G>A r.(?) p.(Arg325Gln) Unknown - VUS g.4103418G>A g.4082188G>A STIM1(NM_001277961.1):c.974G>A (p.R325Q) - STIM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013A>C r.(?) p.(His338Pro) Unknown - VUS g.4103457A>C g.4082227A>C STIM1(NM_001277961.1):c.1013A>C (p.H338P) - STIM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1080A>G r.(?) p.(Gln360=) Unknown - benign g.4103524A>G g.4082294A>G STIM1(NM_001277961.3):c.1080A>G (p.Q360=) - STIM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123G>C r.(?) p.(Val375Leu) Unknown - VUS g.4103567G>C - STIM1(NM_003156.3):c.1123G>C (p.(Val375Leu)) - STIM1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1138-9T>C r.(=) p.(=) Unknown - benign g.4104103T>C - STIM1(NM_001277961.1):c.1138-9T>C (p.(=)) - STIM1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170C>G r.(?) p.(Leu390=) Unknown - likely benign g.4104144C>G - STIM1(NM_001277961.1):c.1170C>G (p.L390=) - STIM1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1186G>A r.(?) p.(Val396Met) Unknown - VUS g.4104160G>A - STIM1(NM_001382567.1):c.1186G>A (p.(Val396Met)) - STIM1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1239-13C>T r.(=) p.(=) Unknown - likely benign g.4104480C>T - STIM1(NM_001277961.1):c.1239-13C>T - STIM1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277G>A r.(?) p.(Arg426His) Unknown - VUS g.4104531G>A - STIM1(NM_003156.3):c.1277G>A (p.(Arg426His)) - STIM1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1286G>A r.(?) p.(Arg429His) Unknown - VUS g.4104540G>A - STIM1(NM_003156.3):c.1286G>A (p.(Arg429His)) - STIM1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>A r.(?) p.(=) Unknown - likely benign g.4104556G>A - STIM1(NM_001277961.1):c.1302G>A (p.E434=), STIM1(NM_001382567.1):c.1302G>A (p.(Glu434=)) - STIM1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302G>A r.(?) p.(=) Unknown - likely benign g.4104556G>A - STIM1(NM_001277961.1):c.1302G>A (p.E434=), STIM1(NM_001382567.1):c.1302G>A (p.(Glu434=)) - STIM1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365C>T r.(?) p.(Asn455=) Unknown - likely benign g.4104619C>T - STIM1(NM_001277961.1):c.1365C>T (p.N455=) - STIM1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1474+17C>G r.(=) p.(=) Unknown - benign g.4104745C>G g.4083515C>G STIM1(NM_001277961.3):c.1474+17C>G - STIM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1484T>A r.(?) p.(Leu495Gln) Unknown - VUS g.4107716T>A - - - STIM1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1505G>T r.(?) p.(Arg502Leu) Unknown - VUS g.4107737G>T g.4086507G>T STIM1(NM_003156.3):c.1505G>T (p.R502L) - STIM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1518A>G r.(?) p.(Pro506=) Unknown - likely benign g.4107750A>G g.4086520A>G STIM1(NM_001277961.1):c.1518A>G (p.P506=), STIM1(NM_003156.3):c.1518A>G (p.P506=) - STIM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1518A>G r.(?) p.(Pro506=) Unknown - likely benign g.4107750A>G - STIM1(NM_001277961.1):c.1518A>G (p.P506=), STIM1(NM_003156.3):c.1518A>G (p.P506=) - STIM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548A>G r.(?) p.(=) Unknown - likely benign g.4107780A>G - STIM1(NM_001382567.1):c.1634+7A>G - STIM1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1552G>A r.(?) p.(Gly518Ser) Unknown - VUS g.4107784G>A g.4086554G>A STIM1(NM_001277961.1):c.1552G>A (p.G518S) - STIM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1579C>T r.(?) p.(Arg527Trp) Unknown - likely benign g.4107811C>T - STIM1(NM_001277961.3):c.1579C>T (p.(Arg527Trp)) - STIM1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1595G>A r.(?) p.(Arg532Gln) Unknown - likely benign g.4107827G>A - STIM1(NM_001277961.3):c.1595G>A (p.(Arg532Gln)) - STIM1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1623T>C r.(?) p.(Ser541=) Unknown - likely benign g.4107855T>C - STIM1(NM_001277961.1):c.1623T>C (p.S541=) - STIM1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1642G>A r.(?) p.(Gly548Arg) Unknown - VUS g.4107874G>A - STIM1(NM_001277961.1):c.1642G>A (p.G548R) - STIM1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1655C>T r.(?) p.(Pro552Leu) Unknown - VUS g.4107887C>T - STIM1(NM_001277961.3):c.1655C>T (p.(Pro552Leu)) - STIM1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1726_1728del r.(?) p.(Thr576del) Unknown - VUS g.4107958_4107960del g.4086728_4086730del STIM1(NM_001277961.1):c.1726_1728delACC (p.T576del) - STIM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1735_1737del r.(?) p.(Thr579del) Unknown - VUS g.4107967_4107969del g.4086737_4086739del STIM1(NM_001277961.1):c.1735_1737delACC (p.T579del) - STIM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1735_1737del r.(?) p.(Thr579del) Unknown - likely benign g.4107967_4107969del - STIM1(NM_001277961.1):c.1735_1737delACC (p.T579del) - STIM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1779_1782del r.(?) p.(Phe594Serfs*17) Unknown - pathogenic g.4108011_4108014del - STIM1(NM_003156.4):c.1541+238_1541+241delTTTC - STIM1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1828G>A r.(?) p.(Ala610Thr) Unknown - VUS g.4108060G>A g.4086830G>A STIM1(NM_001277961.1):c.1828G>A (p.A610T) - STIM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 12 c.1844G>A c.1844G>A p(Arg615His) Unknown - likely benign g.4108076G>A g.4086846G>A - - STIM1_000038 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. - - - Unknown - - - - - DNA - blood - LGMD - - - F ? Belgium - 20y - - - 1 Alicia Alonso-Jiménez
?/. - c.1859+1G>A r.spl? p.? Unknown - VUS g.4108092G>A g.4086862G>A STIM1(NM_001277961.1):c.1859+1G>A (p.?) - STIM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1859+1G>A r.spl? p.? Unknown - likely benign g.4108092G>A g.4086862G>A STIM1(NM_001277961.1):c.1859+1G>A (p.?) - STIM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1859+1G>A r.spl? p.? Unknown - benign g.4108092G>A - STIM1(NM_001277961.1):c.1859+1G>A (p.?) - STIM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1881G>A r.(?) p.(Ser627=) Unknown - VUS g.4112533G>A g.4091303G>A STIM1(NM_001277961.1):c.1881G>A (p.(=)) - RRM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1889C>T r.(?) p.(Ser630Phe) Unknown - likely benign g.4112541C>T g.4091311C>T STIM1(NM_001277961.1):c.1889C>T (p.S630F), STIM1(NM_003156.3):c.1571C>T (p.S524F) - STIM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1889C>T r.(?) p.(Ser630Phe) Unknown - likely benign g.4112541C>T g.4091311C>T STIM1(NM_001277961.1):c.1889C>T (p.S630F), STIM1(NM_003156.3):c.1571C>T (p.S524F) - STIM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1889C>T r.(?) p.(Ser630Phe) Unknown - likely benign g.4112541C>T g.4091311C>T STIM1(NM_001277961.1):c.1889C>T (p.S630F), STIM1(NM_003156.3):c.1571C>T (p.S524F) - STIM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1889C>T r.(?) p.(Ser630Phe) Parent #1 - VUS g.4112541C>T g.4091311C>T - - STIM1_000016 conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141215990 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
?/. - c.1906C>T r.(?) p.(Arg636Cys) Unknown - VUS g.4112558C>T - STIM1(NM_003156.4):c.1588C>T (p.R530C) - RRM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1913G>C r.(?) p.(Arg638Pro) Unknown - VUS g.4112565G>C g.4091335G>C STIM1(NM_001277961.1):c.1913G>C (p.R638P) - STIM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1920C>T r.(?) p.(Ala640=) Unknown - likely benign g.4112572C>T g.4091342C>T STIM1(NM_001277961.1):c.1920C>T (p.A640=) - RRM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1930C>T r.(?) p.(Pro644Ser) Unknown - likely benign g.4112582C>T g.4091352C>T - - STIM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2073G>A r.(?) p.(Ala691=) Unknown - likely benign g.4112725G>A - STIM1(NM_001277961.1):c.2073G>A (p.A691=) - RRM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2121C>G r.(?) p.(Pro707=) Unknown - benign g.4112773C>G g.4091543C>G STIM1(NM_001277961.1):c.2121C>G (p.(Pro707=)) - RRM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2156C>A r.(?) p.(Ser719Tyr) Unknown - likely benign g.4112808C>A - STIM1(NM_001382567.1):c.1931C>A (p.(Ser644Tyr)) - RRM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2162G>A r.(?) p.(Arg721His) Unknown - likely benign g.4112814G>A g.4091584G>A STIM1(NM_001277961.1):c.2162G>A (p.R721H) - STIM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2205A>G r.(?) p.(Pro735=) Unknown - likely benign g.4112857A>G - STIM1(NM_001277961.1):c.2205A>G (p.P735=) - RRM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2218C>T r.(?) p.(Arg740*) Unknown - VUS g.4112870C>T - - - RRM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2246G>A r.(?) p.(Arg749His) Parent #1 - VUS g.4112898G>A g.4091668G>A - - STIM1_000040 conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140080199 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
?/. - c.2246G>A r.(?) p.(Arg749His) Unknown - VUS g.4112898G>A - STIM1(NM_001277961.1):c.2246G>A (p.R749H), STIM1(NM_003156.4):c.1928G>A (p.R643H) - STIM1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2246G>A r.(?) p.(Arg749His) Unknown - VUS g.4112898G>A - STIM1(NM_001277961.1):c.2246G>A (p.R749H), STIM1(NM_003156.4):c.1928G>A (p.R643H) - STIM1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2304C>A r.(?) p.(Gly768=) Unknown - likely benign g.4112956C>A g.4091726C>A STIM1(NM_001277961.1):c.2304C>A (p.G768=), STIM1(NM_001382567.1):c.2079C>A (p.(Gly693=)), STIM1(NM_003156.3):c.1986C>A (p.G662=) - STIM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2304C>A r.(?) p.(Gly768=) Unknown - likely benign g.4112956C>A g.4091726C>A STIM1(NM_001277961.1):c.2304C>A (p.G768=), STIM1(NM_001382567.1):c.2079C>A (p.(Gly693=)), STIM1(NM_003156.3):c.1986C>A (p.G662=) - STIM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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