"Invitae"[submitter] AND "STIM1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 665042	NC_000011.10:g.(?_3856251)_(4091818_?)del	LOC130005171, LOC130005172 +13 more	Deletion	Stormorken syndrome +3 more	GPathogenic
Select item 1023359	NM_001382567.1(STIM1):c.4G>A (p.Asp2Asn)	LOC130005165, STIM1 (D2N)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 403496	NM_001382567.1(STIM1):c.7G>A (p.Val3Ile)	LOC130005165, STIM1 (V3I +1 more)	Single nucleotide variant (missense variant +4 more)	not specified +3 more	GUncertain significance
Select item 530876	NM_001382567.1(STIM1):c.9A>G (p.Val3=)	LOC130005165, STIM1 (Y2C)	Single nucleotide variant (synonymous variant +4 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1327793	NM_001382567.1(STIM1):c.13G>A (p.Val5Ile)	LOC130005165, STIM1 (V5I)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 1972577	NM_001382567.1(STIM1):c.15C>T (p.Val5=)	LOC130005165, STIM1 (S4F)	Single nucleotide variant (synonymous variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1718450	NM_001382567.1(STIM1):c.20T>C (p.Leu7Pro)	STIM1 (L7P)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1035654	NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr)	STIM1 (A8T)	Single nucleotide variant (missense variant +4 more)	not provided +4 more	GUncertain significance
Select item 2925807	NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)	STIM1 (L17del +1 more)	Microsatellite (inframe_deletion +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2926164	NM_001382567.1(STIM1):c.46C>T (p.Leu16Phe)	STIM1 (L16F)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1474074	NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg)	STIM1 (L17R +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1137106	NM_001382567.1(STIM1):c.54C>T (p.His18=)	STIM1 (T17I)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +2 more	GLikely benign
Select item 461736	NM_001382567.1(STIM1):c.57G>C (p.Gln19His)	STIM1 (Q19H +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1524986	NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser)	STIM1 (G20S)	Single nucleotide variant (missense variant +4 more)	not specified +3 more	GUncertain significance
Select item 1426521	NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg)	STIM1 (Q21R +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2932746	NM_001382567.1(STIM1):c.64A>G (p.Ser22Gly)	STIM1 (S22G)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2954346	NM_001382567.1(STIM1):c.67C>T (p.Leu23Phe)	STIM1 (L23F)	Single nucleotide variant (missense variant +4 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2941846	NM_001382567.1(STIM1):c.68T>A (p.Leu23His)	STIM1 (L23H +1 more)	Single nucleotide variant (intron variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 1585797	NM_001382567.1(STIM1):c.69C>T (p.Leu23=)	STIM1 (S22L)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2946366	NM_001382567.1(STIM1):c.79C>G (p.His27Asp)	STIM1 (H27D)	Single nucleotide variant (intron variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 942226	NM_001382567.1(STIM1):c.81C>A (p.His27Gln)	STIM1 (H27Q +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	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)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1713281	NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)	STIM1 (E32K +1 more)	Single nucleotide variant (missense variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 572800	NM_001382567.1(STIM1):c.100A>T (p.Thr34Ser)	STIM1 (T34S +1 more)	Single nucleotide variant (missense variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2951979	NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)	STIM1 (T34S +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1402094	NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile)	STIM1 (T34I +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 706295	NM_001382567.1(STIM1):c.105C>T (p.Ser35=)	STIM1 (A34V)	Single nucleotide variant (synonymous variant +4 more)	not provided +3 more	GLikely benign
Select item 2942925	NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)	STIM1 (R35G +1 more)	Single nucleotide variant (intron variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 931672	NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu)	STIM1 (R35W +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GUncertain significance
Select item 1662168	NM_001382567.1(STIM1):c.108G>C (p.Ser36=)	STIM1 (R35P)	Single nucleotide variant (synonymous variant +4 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1657616	NM_001382567.1(STIM1):c.108G>A (p.Ser36=)	STIM1 (R35Q)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +2 more	GLikely benign
Select item 1002634	NM_001382567.1(STIM1):c.110G>C (p.Gly37Ala)	STIM1 (G36R +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 719609	NM_001382567.1(STIM1):c.111G>A (p.Gly37=)	STIM1 (G36E)	Single nucleotide variant (synonymous variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GBenign
Select item 2930879	NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)	STIM1 (A38T)	Single nucleotide variant (missense variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 258968	NM_001382567.1(STIM1):c.114C>G (p.Ala38=)	STIM1 (P37R)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +4 more	GLikely benign
Select item 1475505	NM_001382567.1(STIM1):c.116A>G (p.Asn39Ser)	STIM1 (N39S +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1352761	NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys)	STIM1 (E42K)	Single nucleotide variant (intron variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1464891	NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro)	STIM1 (S43P)	Single nucleotide variant (non-coding transcript variant +4 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2089137	NM_001382567.1(STIM1):c.129C>T (p.Ser43=)	STIM1 (P42L)	Single nucleotide variant (synonymous variant +4 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2167927	NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)	STIM1 (A45G +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 950049	NM_001382567.1(STIM1):c.139+4A>G	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GUncertain significance
Select item 530882	NM_001382567.1(STIM1):c.139+6G>A	STIM1	Single nucleotide variant (intron variant)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1545401	NM_001382567.1(STIM1):c.139+7C>A	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1570747	NM_001382567.1(STIM1):c.139+13T>A	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 1571999	NM_001382567.1(STIM1):c.139+16G>A	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2170381	NM_001382567.1(STIM1):c.140-16T>G	STIM1	Single nucleotide variant (intron variant)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1661732	NM_001382567.1(STIM1):c.140-15G>C	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2924799	NM_001382567.1(STIM1):c.140-9C>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2933355	NM_001382567.1(STIM1):c.140-5C>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2951479	NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)	STIM1 (F48Y)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 645596	NM_001382567.1(STIM1):c.146G>A (p.Cys49Tyr)	STIM1 (C49Y)	Single nucleotide variant (missense variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 568734	NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln)	STIM1 (R50Q)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 2943919	NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)	STIM1 (P54T)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1452705	NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)	STIM1 (L55fs)	Deletion (frameshift variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GPathogenic
Select item 706287	NM_001382567.1(STIM1):c.177G>A (p.Glu59=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 663469	NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly)	STIM1 (E61G)	Single nucleotide variant (missense variant +3 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 1125568	NM_001382567.1(STIM1):c.192C>T (p.Ser64=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2063784	NM_001382567.1(STIM1):c.195C>T (p.Phe65=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	Stormorken syndrome +2 more	GLikely benign
Select item 666040	NM_001382567.1(STIM1):c.196G>A (p.Glu66Lys)	STIM1 (E66K)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2921713	NM_001382567.1(STIM1):c.199G>A (p.Ala67Thr)	STIM1 (A67T)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 704895	NM_001382567.1(STIM1):c.201A>G (p.Ala67=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GBenign/Likely benign
Select item 952024	NM_001382567.1(STIM1):c.205C>T (p.Arg69Cys)	STIM1 (R69C)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2950825	NM_001382567.1(STIM1):c.206G>A (p.Arg69His)	STIM1 (R69H)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2932677	NM_001382567.1(STIM1):c.218A>G (p.Lys73Arg)	STIM1 (K73R)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 766387	NM_001382567.1(STIM1):c.228C>T (p.Asp76=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 461731	NM_001382567.1(STIM1):c.234T>C (p.Asp78=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	STIM1-related condition +3 more	GBenign/Likely benign
Select item 1499307	NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp)	STIM1 (N80D +1 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 849947	NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser)	STIM1 (N80S +1 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 189363	NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)	STIM1 (N80T +1 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GLikely pathogenic
Select item 2936337	NM_001382567.1(STIM1):c.240T>C (p.Asn80=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2937591	NM_001382567.1(STIM1):c.246T>C (p.Asp82=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1395833	NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)	STIM1 (S14G +1 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GLikely pathogenic
Select item 2927489	NM_001382567.1(STIM1):c.270G>C (p.Glu90Asp)	STIM1 (E90D +1 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2020521	NM_001382567.1(STIM1):c.270+2T>C	STIM1	Single nucleotide variant (splice donor variant +1 more)	Myopathy with tubular aggregates +2 more	GLikely pathogenic
Select item 1900224	NM_001382567.1(STIM1):c.270+5G>T	STIM1	Single nucleotide variant (intron variant)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2128494	NM_001382567.1(STIM1):c.270+11C>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2926371	NM_001382567.1(STIM1):c.270+12C>T	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1592329	NM_001382567.1(STIM1):c.270+13A>G	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2953158	NM_001382567.1(STIM1):c.270+19C>T	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2932909	NM_001382567.1(STIM1):c.271-3034_271-3023del	STIM1	Deletion (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 1169983	NM_001382567.1(STIM1):c.271-3034G>C	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GBenign
Select item 2019049	NM_001382567.1(STIM1):c.271-19G>C	STIM1	Single nucleotide variant (intron variant)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1656322	NM_001382567.1(STIM1):c.271-19G>A	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 1481395	NM_001382567.1(STIM1):c.271-14C>G	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2936497	NM_001382567.1(STIM1):c.271-11T>C	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 947217	NM_001382567.1(STIM1):c.271-3C>T	STIM1	Single nucleotide variant (intron variant)	STIM1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2125091	NM_001382567.1(STIM1):c.272T>A (p.Phe91Tyr)	STIM1 (F17Y +2 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1125898	NM_001382567.1(STIM1):c.285C>T (p.Asp95=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 1005348	NM_001382567.1(STIM1):c.295C>T (p.His99Tyr)	STIM1 (H25Y +2 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 666068	NM_001382567.1(STIM1):c.295C>G (p.His99Asp)	STIM1 (H99D +2 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2940613	NM_001382567.1(STIM1):c.296A>G (p.His99Arg)	STIM1 (H25R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2945508	NM_001382567.1(STIM1):c.297T>C (p.His99=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1137295	NM_001382567.1(STIM1):c.300C>T (p.Asp100=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 1430482	NM_001382567.1(STIM1):c.301C>G (p.Pro101Ala)	STIM1 (P56A +2 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 848609	NM_001382567.1(STIM1):c.304A>G (p.Thr102Ala)	STIM1 (T102A +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 705880	NM_001382567.1(STIM1):c.306A>G (p.Thr102=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 1983568	NM_001382567.1(STIM1):c.313C>G (p.His105Asp)	STIM1 (H31D +2 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1718665	NM_001382567.1(STIM1):c.313C>A (p.His105Asn)	STIM1 (H105N +2 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2938347	NM_001382567.1(STIM1):c.314A>C (p.His105Pro)	STIM1 (H105P +2 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance

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