"Ambry Genetics"[submitter] AND "STIM1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2486287	NM_001382567.1(STIM1):c.29G>T (p.Trp10Leu)	STIM1 (G9C +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1046761	NM_001382567.1(STIM1):c.91G>C (p.Ala31Pro)	STIM1 (A31P +1 more)	Single nucleotide variant (missense variant +3 more)	Myopathy with tubular aggregates +3 more	GUncertain significance
Select item 2067637	NM_001382567.1(STIM1):c.92C>T (p.Ala31Val)	STIM1 (A31V +1 more)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +3 more	GUncertain significance
Select item 2167927	NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)	STIM1 (A45G +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 568734	NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln)	STIM1 (R50Q)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +3 more	GUncertain significance
Select item 3171202	NM_001382567.1(STIM1):c.286C>G (p.Leu96Val)	STIM1 (L22V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 705955	NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)	STIM1 (E136D +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1038769	NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln)	STIM1 (R110Q +2 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +4 more	GUncertain significance
Select item 2143190	NM_001382567.1(STIM1):c.661G>A (p.Val221Ile)	STIM1 (V145I +5 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 1 +4 more	GUncertain significance
Select item 2609269	NM_001382567.1(STIM1):c.676G>A (p.Gly226Ser)	STIM1 (G152S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1903912	NM_001382567.1(STIM1):c.746A>G (p.Glu249Gly)	STIM1 (E175G +5 more)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 1473215	NM_001382567.1(STIM1):c.872A>C (p.Asn291Thr)	STIM1 (N291T +5 more)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates +3 more	GUncertain significance
Select item 2050080	NM_001382567.1(STIM1):c.919A>G (p.Thr307Ala)	STIM1 (T262A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2238467	NM_001382567.1(STIM1):c.932G>A (p.Arg311Gln)	STIM1 (R148Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1016603	NM_001382567.1(STIM1):c.1394G>A (p.Arg465His)	STIM1 (R302H +6 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +4 more	GUncertain significance
Select item 2182307	NM_001382567.1(STIM1):c.1436A>G (p.Asp479Gly)	STIM1 (D405G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 852471	NM_001382567.1(STIM1):c.1598G>A (p.Arg533His)	STIM1 (R502H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1043591	NM_001382567.1(STIM1):c.1636G>T (p.Asp546Tyr)	STIM1 (D439Y +12 more)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 2620944	NM_001382567.1(STIM1):c.1673T>G (p.Met558Arg)	STIM1 (H539Q +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270180	NM_001382567.1(STIM1):c.1697C>G (p.Pro566Arg)	STIM1 (P535R +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2493431	NM_001382567.1(STIM1):c.1738A>C (p.Asn580His)	STIM1 (N386H +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2057386	NM_001382567.1(STIM1):c.1818C>A (p.Ser606Arg)	LOC124418421, STIM1 (S499R +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 1056127	NM_001382567.1(STIM1):c.1892G>A (p.Ser631Asn)	LOC124418421, STIM1 (S437N +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 950347	NM_001382567.1(STIM1):c.1894C>T (p.Pro632Ser)	LOC124418421, STIM1 (P525S +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 864286	NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val)	LOC124418421, STIM1 (A709V +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 530877	NM_001382567.1(STIM1):c.2053G>A (p.Ala685Thr)	LOC124418421, STIM1 (A654T +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +3 more	GUncertain significance

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Items: 26