ClinVar for OMIM (Select 160565) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256588	NM_001382567.1(STIM1):c.344T>C (p.Ile115Thr)	STIM1 (I115T +2 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, tubular aggregate, 1	GLikely pathogenic
Select item 3244589	NC_000011.9:g.(?_4104092)_(4113028_?)dup	STIM1	Duplication	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 3244588	NC_000011.9:g.(?_3845093)_(4045237_?)dup	PGAP2, RHOG +1 more	Duplication	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 3236679	NM_001382567.1(STIM1):c.250G>A (p.Asp84Asn)	STIM1 (D10N +1 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, tubular aggregate, 1	GUncertain significance
Select item 3236678	NM_001382567.1(STIM1):c.252T>A (p.Asp84Glu)	STIM1 (D10E +1 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, tubular aggregate, 1	GLikely pathogenic
Select item 3233259	NM_004837.4(GGPS1):c.770T>G (p.Phe257Cys)	GGPS1 (F203C +1 more)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GLikely pathogenic
Select item 3233256	NM_001382.4(DPAGT1):c.1133A>T (p.Asn378Ile)	DPAGT1 (N378I)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 3233253	NM_001231.5(CASQ1):c.166A>T (p.Asn56Tyr)	CASQ1 (N56Y)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 3233252	NM_001231.5(CASQ1):c.308G>A (p.Gly103Asp)	CASQ1 (G103D)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GPathogenic
Select item 3233242	NM_001382567.1(STIM1):c.293A>G (p.Tyr98Cys)	STIM1 (Y24C +2 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates	GLikely pathogenic
Select item 3061748	NM_001382567.1(STIM1):c.1453del (p.Val485fs)	STIM1 (V322fs +6 more)	Deletion (frameshift variant +1 more)	Myopathy, tubular aggregate, 1	GPathogenic
Select item 2954504	NM_001382567.1(STIM1):c.1357G>T (p.Ala453Ser)	STIM1 (A377S +6 more)	Single nucleotide variant (missense variant +1 more)	Myopathy with tubular aggregates +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 2954231	NM_001382567.1(STIM1):c.1882A>G (p.Met628Val)	LOC124418421, STIM1 (M597V +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2953858	NM_001382567.1(STIM1):c.1605G>A (p.Thr535=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 2953158	NM_001382567.1(STIM1):c.270+19C>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2953000	NM_001382567.1(STIM1):c.1913G>C (p.Gly638Ala)	LOC124418421, STIM1 (G447A +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2952841	NM_001382567.1(STIM1):c.1568-10C>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2951979	NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)	STIM1 (T34S +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2951802	NM_001382567.1(STIM1):c.1474+16_1474+17delinsTG	STIM1	Indel (3 prime UTR variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2951715	NM_001382567.1(STIM1):c.1453G>A (p.Val485Met)	STIM1 (V325M +6 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
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 2951433	NM_001382567.1(STIM1):c.831G>T (p.Val277=)	STIM1	Single nucleotide variant (synonymous variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2950863	NM_001382567.1(STIM1):c.1870G>T (p.Ala624Ser)	LOC124418421, STIM1 (A430S +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +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 2949948	NM_001382567.1(STIM1):c.2013A>G (p.Arg671=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2949313	NM_001382567.1(STIM1):c.1767G>A (p.Arg589=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2948830	NM_001382567.1(STIM1):c.630C>G (p.His210Gln)	STIM1 (H134Q +5 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2948805	NM_001382567.1(STIM1):c.1239-10_1239-9del	STIM1 (S417fs)	Microsatellite (frameshift variant +1 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2948594	NM_001382567.1(STIM1):c.792-5C>G	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GUncertain significance
Select item 2948546	NM_001382567.1(STIM1):c.1791G>T (p.Gly597=)	STIM1	Single nucleotide variant (non-coding transcript variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2947950	NM_001382567.1(STIM1):c.684G>T (p.Trp228Cys)	STIM1 (W183C +5 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2947491	NM_001382567.1(STIM1):c.1592G>A (p.Arg531Gln)	STIM1 (R337Q +7 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2947281	NM_001382567.1(STIM1):c.1991G>A (p.Ser664Asn)	LOC124418421, STIM1 (S557N +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2947128	NM_001382567.1(STIM1):c.1342C>T (p.His448Tyr)	STIM1 (H374Y +6 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2946717	NM_001382567.1(STIM1):c.1779G>T (p.Gly593=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2946700	NM_001382567.1(STIM1):c.1749T>G (p.Thr583=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2946366	NM_001382567.1(STIM1):c.79C>G (p.His27Asp)	STIM1 (H27D)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2945772	NM_001382567.1(STIM1):c.702C>T (p.Asn234=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2945508	NM_001382567.1(STIM1):c.297T>C (p.His99=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2944232	NM_001382567.1(STIM1):c.902A>G (p.Lys301Arg)	STIM1 (K227R +5 more)	Single nucleotide variant (missense variant)	Stormorken syndrome +2 more	GUncertain significance
Select item 2943919	NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)	STIM1 (P54T)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2943525	NM_001382567.1(STIM1):c.2109G>T (p.Lys703Asn)	STIM1 (K509N +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2943403	NM_001382567.1(STIM1):c.1790G>A (p.Gly597Glu)	STIM1 (G403E +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2942925	NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)	STIM1 (R35G +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2941846	NM_001382567.1(STIM1):c.68T>A (p.Leu23His)	STIM1 (L23H +1 more)	Single nucleotide variant (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2941598	NM_001382567.1(STIM1):c.2042A>G (p.Lys681Arg)	LOC124418421, STIM1 (K605R +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2941372	NM_001382567.1(STIM1):c.1846G>A (p.Ala616Thr)	LOC124418421, STIM1 (A422T +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2941135	NM_001382567.1(STIM1):c.360G>A (p.Leu120=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2940738	NM_001382567.1(STIM1):c.1855C>T (p.His619Tyr)	LOC124418421, STIM1 (H512Y +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +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)	Stormorken syndrome +2 more	GUncertain significance
Select item 2940509	NM_001382567.1(STIM1):c.1980A>G (p.Pro660=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2940280	NM_001382567.1(STIM1):c.1900G>T (p.Ala634Ser)	LOC124418421, STIM1 (A440S +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2939741	NM_001382567.1(STIM1):c.1459C>G (p.Pro487Ala)	STIM1 (P327A +6 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2939648	NM_001382567.1(STIM1):c.1122G>A (p.Leu374=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2939490	NM_001382567.1(STIM1):c.1586G>C (p.Ser529Thr)	STIM1 (S335T +7 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2939128	NM_001382567.1(STIM1):c.1580A>G (p.Gln527Arg)	STIM1 (Q527R +7 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2938752	NM_001382567.1(STIM1):c.1568-13A>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2938537	NM_001382567.1(STIM1):c.614-20T>G	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2938430	NM_001382567.1(STIM1):c.495A>C (p.Pro165=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2938347	NM_001382567.1(STIM1):c.314A>C (p.His105Pro)	STIM1 (H105P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2938108	NM_001382567.1(STIM1):c.2092T>G (p.Ser698Ala)	LOC124418421, STIM1 (S507A +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2937817	NM_001382567.1(STIM1):c.497+16G>A	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2937591	NM_001382567.1(STIM1):c.246T>C (p.Asp82=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2937549	NM_001382567.1(STIM1):c.1879C>T (p.Leu627=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2937221	NM_001382567.1(STIM1):c.1137+14T>G	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2937124	NM_001382567.1(STIM1):c.1620C>T (p.Gly540=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2937018	NM_001382567.1(STIM1):c.498-6C>T	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2936953	NM_001382567.1(STIM1):c.1137+11C>G	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2936497	NM_001382567.1(STIM1):c.271-11T>C	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2936337	NM_001382567.1(STIM1):c.240T>C (p.Asn80=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2936254	NM_001382567.1(STIM1):c.747G>T (p.Glu249Asp)	STIM1 (E204D +5 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2936175	NM_001382567.1(STIM1):c.498-16C>G	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2935791	NM_001382567.1(STIM1):c.1673T>A (p.Met558Lys)	STIM1 (M367K +12 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2935656	NM_001382567.1(STIM1):c.1474+17C>T	STIM1	Single nucleotide variant (3 prime UTR variant +1 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2935329	NM_001382567.1(STIM1):c.729G>A (p.Lys243=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2935024	NM_001382567.1(STIM1):c.354G>A (p.Glu118=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2934344	NM_001382567.1(STIM1):c.1745T>C (p.Met582Thr)	STIM1 (M475T +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2933355	NM_001382567.1(STIM1):c.140-5C>T	STIM1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2933297	NM_001382567.1(STIM1):c.846G>C (p.Leu282=)	STIM1	Single nucleotide variant (synonymous variant)	Stormorken syndrome +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 2932903	NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)	STIM1 (N422S +6 more)	Single nucleotide variant (missense variant +1 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 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 2932014	NM_001382567.1(STIM1):c.1883T>C (p.Met628Thr)	LOC124418421, STIM1 (M434T +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2930879	NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)	STIM1 (A38T)	Single nucleotide variant (missense variant +4 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2930158	NM_001382567.1(STIM1):c.1620C>G (p.Gly540=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2930092	NM_001382567.1(STIM1):c.870C>T (p.Ile290=)	STIM1	Single nucleotide variant (synonymous variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2929456	NM_001382567.1(STIM1):c.1232C>G (p.Thr411Arg)	STIM1 (T251R +5 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2929274	NM_001382567.1(STIM1):c.498-14C>G	STIM1	Single nucleotide variant (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2929086	NM_001382567.1(STIM1):c.1138-15dup	STIM1	Duplication (intron variant)	Stormorken syndrome +2 more	GLikely benign
Select item 2928872	NM_001382567.1(STIM1):c.1642A>G (p.Thr548Ala)	STIM1 (D366G +12 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2928528	NM_001382567.1(STIM1):c.1712T>G (p.Met571Arg)	STIM1 (M380R +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GBenign
Select item 2928470	NM_001382567.1(STIM1):c.1850T>C (p.Leu617Pro)	LOC124418421, STIM1 (L426P +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2928382	NM_001382567.1(STIM1):c.1895C>T (p.Pro632Leu)	LOC124418421, STIM1 (P441L +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2928208	NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)	STIM1 (L328* +6 more)	Single nucleotide variant (nonsense +1 more)	Stormorken syndrome +2 more	GPathogenic
Select item 2928130	NM_001382567.1(STIM1):c.620G>A (p.Arg207His)	STIM1 (R133H +5 more)	Single nucleotide variant (missense variant +1 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2927996	NM_001382567.1(STIM1):c.2074A>T (p.Ile692Phe)	LOC124418421, STIM1 (I501F +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2927532	NM_001382567.1(STIM1):c.1119G>C (p.Leu373=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
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

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