11386[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 153706	GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	LINC02749, LOC106865369 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1234253	NM_001382566.1(STIM1):c.-84+190_-84+191insCC	STIM1	Insertion (intron variant)	not provided	GBenign
Select item 1268800	NM_001382566.1(STIM1):c.-84+194dup	STIM1	Duplication (intron variant)	not provided	GBenign
Select item 1292236	NM_001382566.1(STIM1):c.-84+198del	STIM1	Deletion (intron variant)	not provided	GBenign
Select item 1289827	NM_001382567.1(STIM1):c.-607A>G	STIM1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1232342	NM_001382567.1(STIM1):c.-427C>T	STIM1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1249545	NM_001382567.1(STIM1):c.-385TCTTC[3]	STIM1	Microsatellite (5 prime UTR variant +2 more)	not provided	GBenign
Select item 665042	NC_000011.10:g.(?_3856251)_(4091818_?)del	LOC112081391, LOC121832782 +13 more	Deletion	Stormorken syndrome +3 more	GPathogenic
Select item 636567	NM_001382567.1(STIM1):c.-7T>G	STIM1, LOC130005165	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 +4 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)	Stormorken syndrome +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)	Myopathy with tubular aggregates +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)	Immunodeficiency, common variable, 10 +4 more	GUncertain significance
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 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)	Myopathy with tubular aggregates +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)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance
Select item 1426521	NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg)	STIM1 (Q21R +1 more)	Single nucleotide variant (intron variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +3 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 (missense variant +3 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1585797	NM_001382567.1(STIM1):c.69C>T (p.Leu23=)	STIM1 (S22L)	Single nucleotide variant (synonymous 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 (missense 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)	Combined immunodeficiency due to STIM1 deficiency +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)	Stormorken syndrome +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 +4 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)	Stormorken syndrome +2 more	GUncertain significance
Select item 1050047	NM_001382567.1(STIM1):c.98G>C (p.Gly33Ala)	STIM1 (E32Q +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	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)	Combined immunodeficiency due to STIM1 deficiency +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)	Stormorken syndrome +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)	Myopathy with tubular aggregates +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)	Combined immunodeficiency due to STIM1 deficiency +3 more	GLikely benign
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 931672	NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu)	STIM1 (R35W +1 more)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency +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)	Stormorken syndrome +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)	Stormorken syndrome +2 more	GBenign
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 258968	NM_001382567.1(STIM1):c.114C>G (p.Ala38=)	STIM1 (P37R)	Single nucleotide variant (synonymous variant +4 more)	not provided +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)	Stormorken syndrome +2 more	GUncertain significance
Select item 1352761	NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys)	STIM1 (E42K)	Single nucleotide variant (missense variant +4 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 1464891	NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro)	STIM1 (S43P)	Single nucleotide variant (missense 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)	Combined immunodeficiency due to STIM1 deficiency +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)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1571999	NM_001382567.1(STIM1):c.139+16G>A	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1683863	NM_001382567.1(STIM1):c.139+161A>C	LOC130005167, STIM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300428	NM_001382567.1(STIM1):c.139+246A>C	STIM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170381	NM_001382567.1(STIM1):c.140-16T>G	STIM1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to STIM1 deficiency +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 +3 more	GConflicting classifications of pathogenicity
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)	Combined immunodeficiency due to STIM1 deficiency +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)	Inborn genetic diseases +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)	Stormorken syndrome +2 more	GUncertain significance
Select item 1452705	NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)	STIM1 (L55fs)	Deletion (frameshift variant +3 more)	Stormorken syndrome +2 more	GPathogenic
Select item 706287	NM_001382567.1(STIM1):c.177G>A (p.Glu59=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	Stormorken syndrome +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)	Stormorken syndrome +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 2641522	NM_001382567.1(STIM1):c.198G>A (p.Glu66=)	STIM1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
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)	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 3233243	NM_001382567.1(STIM1):c.216C>A (p.His72Gln)	STIM1	Single nucleotide variant (missense variant +3 more)	Myopathy, autophagic vacuolar, infantile-onset	GLikely pathogenic
Select item 2683800	NM_001382567.1(STIM1):c.216C>G (p.His72Gln)	STIM1 (H72Q)	Single nucleotide variant (missense variant +3 more)	Myopathy, tubular aggregate, 1	GPathogenic
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 375471	NM_001382567.1(STIM1):c.221T>C (p.Leu74Pro)	STIM1 (L74P)	Single nucleotide variant (missense variant +3 more)	Combined immunodeficiency due to STIM1 deficiency	GPathogenic
Select item 1306830	NM_001382567.1(STIM1):c.227A>G (p.Asp76Gly)	STIM1 (D2G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 766387	NM_001382567.1(STIM1):c.228C>T (p.Asp76=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 461731	NM_001382567.1(STIM1):c.234T>C (p.Asp78=)	STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GBenign
Select item 1499307	NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp)	STIM1 (N80D +1 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +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)	Myopathy with tubular aggregates +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)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely pathogenic
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 3065020	NM_001382567.1(STIM1):c.241G>T (p.Gly81Cys)	STIM1 (G7C +1 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency	GUncertain significance
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 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 2506361	NM_001382567.1(STIM1):c.251A>C (p.Asp84Ala)	STIM1 (D10A +1 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome	GLikely pathogenic
Select item 41481	NM_001382567.1(STIM1):c.251A>G (p.Asp84Gly)	STIM1 (D84G +1 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates	GPathogenic
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 1395833	NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)	STIM1 (S14G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely pathogenic

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