Full data view for gene SIM1

Information The variants shown are described using the NM_005068.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.279C>T r.(?) p.(Phe93=) Unknown - likely benign g.100898212G>A - SIM1(NM_005068.2):c.279C>T (p.F93=) - SIM1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348+24C>T r.(=) p.(=) Unknown - benign g.100898119G>A - SIM1(NM_005068.2):c.348+24C>T - SIM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.383T>C r.(?) p.(Ile128Thr) Unknown - benign g.100897541A>G g.100449665A>G SIM1(NM_005068.2):c.383T>C (p.I128T) - SIM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.383T>C r.(?) p.(Ile128Thr) Unknown - likely benign g.100897541A>G - SIM1(NM_005068.2):c.383T>C (p.I128T) - SIM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.390G>A r.(?) p.(Pro130=) Unknown - likely benign g.100897534C>T - SIM1(NM_005068.2):c.390G>A (p.P130=) - SIM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452T>G r.(?) p.(Val151Gly) Unknown - VUS g.100897472A>C - SIM1(NM_005068.2):c.452T>G (p.V151G) - SIM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.544-19C>T r.(=) p.(=) Unknown - likely benign g.100896573G>A - SIM1(NM_005068.2):c.544-19C>T - SIM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.554G>A r.(?) p.(Cys185Tyr) Unknown - VUS g.100896544C>T - SIM1(NM_005068.2):c.554G>A (p.C185Y) - SIM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804T>C r.(?) p.(His268=) Unknown - likely benign g.100896068A>G - SIM1(NM_005068.2):c.804T>C (p.H268=) - SIM1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.851-3C>T r.spl? p.? Unknown - likely benign g.100895294G>A - SIM1(NM_005068.2):c.851-3C>T - SIM1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.963G>T r.(?) p.(Arg321Ser) Unknown - VUS g.100895179C>A - SIM1(NM_005068.2):c.963G>T (p.R321S) - SIM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.999-8C>T r.(=) p.(=) Unknown - benign g.100868842G>A - SIM1(NM_005068.2):c.999-8C>T - SIM1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1054C>T r.(?) p.(Pro352Ser) Unknown - benign g.100868779G>A g.100420903G>A SIM1(NM_005068.2):c.1054C>T (p.P352S) - SIM1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1082C>T r.(?) p.(Thr361Ile) Unknown - benign g.100868751G>A g.100420875G>A SIM1(NM_005068.2):c.1082C>T (p.T361I) - SIM1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1161C>T r.(?) p.(Tyr387=) Unknown - benign g.100868672G>A - SIM1(NM_005068.2):c.1161C>T (p.Y387=) - SIM1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1193C>T r.(?) p.(Ser398Leu) Unknown - VUS g.100841740G>A - SIM1(NM_005068.2):c.1193C>T (p.S398L) - SIM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236C>A r.(?) p.(Thr412=) Unknown - likely benign g.100841697G>T - SIM1(NM_005068.2):c.1236C>A (p.T412=) - SIM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1314G>A r.(?) p.(Gln438=) Unknown - likely benign g.100841619C>T - SIM1(NM_005068.2):c.1314G>A (p.Q438=) - SIM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1319C>T r.(?) p.(Ser440Leu) Unknown - VUS g.100841614G>A - SIM1(NM_005068.2):c.1319C>T (p.S440L) - SIM1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1320G>A r.(?) p.(Ser440=) Unknown - likely benign g.100841613C>T - SIM1(NM_005068.2):c.1320G>A (p.S440=) - SIM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398C>T r.(?) p.(Ala466=) Unknown - likely benign g.100841535G>A - SIM1(NM_005068.2):c.1398C>T (p.A466=) - SIM1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1405_1413del r.(?) p.(Gly469_Arg471del) Unknown - VUS g.100841521_100841529del - SIM1(NM_005068.2):c.1405_1413delGGAGGCCGA (p.G469_R471del) - SIM1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1540C>T r.(?) p.(Pro514Ser) Unknown - VUS g.100841393G>A - SIM1(NM_005068.2):c.1540C>T (p.P514S) - SIM1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569T>C r.(?) p.(His523=) Unknown - likely benign g.100841364A>G g.100393488A>G SIM1(NM_005068.2):c.1569T>C (p.H523=) - SIM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1569T>C r.(?) p.(His523=) Unknown - likely benign g.100841364A>G - SIM1(NM_005068.2):c.1569T>C (p.H523=) - SIM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1594A>G r.(?) p.(Ser532Gly) Unknown - VUS g.100838944T>C - SIM1(NM_005068.2):c.1594A>G (p.S532G) - SIM1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1605T>C r.(?) p.(Ser535=) Unknown - benign g.100838933A>G - SIM1(NM_005068.2):c.1605T>C (p.S535=) - SIM1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1649G>A r.(?) p.(Arg550His) Unknown - VUS g.100838889C>T - SIM1(NM_005068.2):c.1649G>A (p.R550H) - SIM1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1658A>T r.(?) p.(Gln553Leu) Unknown - VUS g.100838880T>A - SIM1(NM_005068.2):c.1658A>T (p.Q553L) - SIM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1697C>T r.(?) p.(Thr566Ile) Unknown - VUS g.100838841G>A - SIM1(NM_005068.2):c.1697C>T (p.T566I) - SIM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1894C>T r.(?) p.(His632Tyr) Unknown - VUS g.100838644G>A - SIM1(NM_005068.2):c.1894C>T (p.H632Y) - SIM1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1943A>G r.(?) p.(Tyr648Cys) Unknown - VUS g.100838595T>C - SIM1(NM_005068.2):c.1943A>G (p.Y648C) - SIM1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1960G>A r.(?) p.(Ala654Thr) Unknown - likely benign g.100838578C>T - SIM1(NM_005068.2):c.1960G>A (p.A654T) - SIM1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1994G>A r.(?) p.(Arg665His) Unknown - benign g.100838544C>T g.100390668C>T SIM1(NM_005068.2):c.1994G>A (p.R665H) - SIM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1994G>A r.(?) p.(Arg665His) Parent #1 - likely benign g.100838544C>T g.100390668C>T - - SIM1_000002 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146866401 Germline - 10/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
?/. - c.2039C>T r.(?) p.(Ser680Leu) Unknown - VUS g.100838499G>A - SIM1(NM_005068.2):c.2039C>T (p.S680L) - SIM1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2119G>C r.(?) p.(Asp707His) Unknown - likely benign g.100838419C>G - SIM1(NM_005068.2):c.2119G>C (p.D707H) - SIM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2203A>C r.(?) p.(Asn735His) Unknown - VUS g.100838335T>G - SIM1(NM_005068.2):c.2203A>C (p.N735H) - SIM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2292C>T r.(?) p.(Asn764=) Unknown - likely benign g.100838246G>A - SIM1(NM_005068.2):c.2292C>T (p.N764=) - SIM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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