LOC124418421[gene] - 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 665042	NC_000011.10:g.(?_3856251)_(4091818_?)del	LOC112081391, LOC121832782 +13 more	Deletion	Stormorken syndrome +3 more	GPathogenic
Select item 1654205	NM_001382567.1(STIM1):c.1812T>C (p.Pro604=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 797081	NM_001382567.1(STIM1):c.1815C>T (p.Asp605=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1718070	NM_001382567.1(STIM1):c.1818_1819delinsTA (p.Pro607Thr)	STIM1, LOC124418421 (P413T +9 more)	Indel (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 944046	NM_001382567.1(STIM1):c.1820C>T (p.Pro607Leu)	LOC124418421, STIM1 (P413L +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 942022	NM_001382567.1(STIM1):c.1822G>A (p.Ala608Thr)	LOC124418421, STIM1 (A532T +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2016816	NM_001382567.1(STIM1):c.1827G>C (p.Leu609=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 1684452	NM_001382567.1(STIM1):c.1828G>A (p.Ala610Thr)	STIM1, LOC124418421 (A416T +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome	GUncertain significance
Select item 1383853	NM_001382567.1(STIM1):c.1837G>A (p.Ala613Thr)	LOC124418421, STIM1 (A582T +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 649175	NM_001382567.1(STIM1):c.1838C>T (p.Ala613Val)	LOC124418421, STIM1 (A688V +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, tubular aggregate, 1 +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 568147	NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)	LOC124418421, STIM1 (A585V +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +4 more	GUncertain significance
Select item 767415	NM_001382567.1(STIM1):c.1848G>A (p.Ala616=)	STIM1, LOC124418421	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
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 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 2927232	NM_001382567.1(STIM1):c.1855C>A (p.His619Asn)	LOC124418421, STIM1 (H512N +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 461725	NM_001382567.1(STIM1):c.1856A>G (p.His619Arg)	LOC124418421, STIM1 (H588R +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1010176	NM_001382567.1(STIM1):c.1859G>C (p.Gly620Ala)	LOC124418421, STIM1 (G426A +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1015522	NM_001382567.1(STIM1):c.1866C>G (p.Asp622Glu)	STIM1, LOC124418421 (D428E +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
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 2926799	NM_001382567.1(STIM1):c.1872C>T (p.Ala624=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 860940	NM_001382567.1(STIM1):c.1873C>T (p.His625Tyr)	LOC124418421, STIM1 (H594Y +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
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 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 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 1000321	NM_001382567.1(STIM1):c.1885G>A (p.Glu629Lys)	LOC124418421, STIM1 (E435K +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 649990	NM_001382567.1(STIM1):c.1887G>C (p.Glu629Asp)	LOC124418421, STIM1 (E704D +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 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)	Combined immunodeficiency due to STIM1 deficiency +4 more	GUncertain significance
Select item 1544490	NM_001382567.1(STIM1):c.1893C>T (p.Ser631=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 950347	NM_001382567.1(STIM1):c.1894C>T (p.Pro632Ser)	LOC124418421, STIM1 (P525S +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +3 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 258974	NM_001382567.1(STIM1):c.1896C>G (p.Pro632=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 2070835	NM_001382567.1(STIM1):c.1899A>G (p.Ser633=)	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 864286	NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val)	LOC124418421, STIM1 (A709V +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +3 more	GUncertain significance
Select item 258975	NM_001382567.1(STIM1):c.1906C>G (p.Pro636Ala)	LOC124418421, STIM1 (P605A +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +3 more	GLikely benign
Select item 1470772	NM_001382567.1(STIM1):c.1909G>C (p.Gly637Arg)	LOC124418421, STIM1 (G446R +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 566360	NM_001382567.1(STIM1):c.1912G>A (p.Gly638Ser)	STIM1, LOC124418421 (G607S +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
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 2418068	NM_001382567.1(STIM1):c.1931C>T (p.Ser644Phe)	LOC124418421, STIM1 (S450F +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 461726	NM_001382567.1(STIM1):c.1931C>A (p.Ser644Tyr)	LOC124418421, STIM1 (S613Y +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign
Select item 1113176	NM_001382567.1(STIM1):c.1932T>C (p.Ser644=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 1087120	NM_001382567.1(STIM1):c.1935C>T (p.Ser645=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Myopathy with tubular aggregates +2 more	GLikely benign
Select item 461727	NM_001382567.1(STIM1):c.1937G>A (p.Arg646His)	LOC124418421, STIM1 (R615H +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1469273	NM_001382567.1(STIM1):c.1943A>T (p.His648Leu)	LOC124418421, STIM1 (H454L +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 1719800	NM_001382567.1(STIM1):c.1947C>A (p.Ser649Arg)	LOC124418421, STIM1 (S455R +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 792611	NM_001382567.1(STIM1):c.1947C>T (p.Ser649=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 568211	NM_001382567.1(STIM1):c.1960G>A (p.Asp654Asn)	LOC124418421, STIM1 (D623N +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1008397	NM_001382567.1(STIM1):c.1969A>G (p.Thr657Ala)	LOC124418421, STIM1 (T463A +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2197182	NM_001382567.1(STIM1):c.1970C>T (p.Thr657Ile)	LOC124418421, STIM1 (T463I +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1104956	NM_001382567.1(STIM1):c.1974A>G (p.Pro658=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 2628858	NM_001382567.1(STIM1):c.1978C>T (p.Pro660Ser)	LOC124418421, STIM1 (P466S +9 more)	Single nucleotide variant (missense variant +2 more)	STIM1-related disorder	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 1362297	NM_001382567.1(STIM1):c.1981G>C (p.Val661Leu)	LOC124418421, STIM1 (V637L +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2923649	NM_001382567.1(STIM1):c.1982T>C (p.Val661Ala)	LOC124418421, STIM1 (V467A +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 665790	NM_001382567.1(STIM1):c.1987G>A (p.Asp663Asn)	LOC124418421, STIM1 (D632N +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +3 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 488947	NM_001382567.1(STIM1):c.1993C>T (p.Arg665Ter)	LOC124418421, STIM1 (R634* +9 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 838190	NM_001382567.1(STIM1):c.1994G>A (p.Arg665Gln)	LOC124418421, STIM1 (R634Q +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 2121931	NM_001382567.1(STIM1):c.1999C>T (p.Leu667=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
Select item 1472835	NM_001382567.1(STIM1):c.1999C>A (p.Leu667Met)	LOC124418421, STIM1 (L562M +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1473945	NM_001382567.1(STIM1):c.2011C>T (p.Arg671Ter)	LOC124418421, STIM1 (R566* +9 more)	Single nucleotide variant (nonsense +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1400818	NM_001382567.1(STIM1):c.2012G>T (p.Arg671Leu)	LOC124418421, STIM1 (R746L +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 530875	NM_001382567.1(STIM1):c.2012G>A (p.Arg671Gln)	LOC124418421, STIM1 (R640Q +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +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 1433341	NM_001382567.1(STIM1):c.2017A>G (p.Thr673Ala)	LOC124418421, STIM1 (T597A +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 855253	NM_001382567.1(STIM1):c.2020C>T (p.Arg674Cys)	LOC124418421, STIM1 (R643C +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 258976	NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)	LOC124418421, STIM1 (R643H +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1475309	NM_001382567.1(STIM1):c.2024T>C (p.Ile675Thr)	LOC124418421, STIM1 (I484T +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 992542	NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala)	LOC124418421, STIM1 (P482A +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy, tubular aggregate, 1 +3 more	GUncertain significance
Select item 950874	NM_001382567.1(STIM1):c.2034G>A (p.Leu678=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1346272	NM_001382567.1(STIM1):c.2035G>A (p.Ala679Thr)	LOC124418421, STIM1 (A488T +9 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +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 567939	NM_001382567.1(STIM1):c.2047G>T (p.Ala683Ser)	LOC124418421, STIM1 (A652S +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2148719	NM_001382567.1(STIM1):c.2049T>C (p.Ala683=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Stormorken syndrome +2 more	GLikely benign
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
Select item 645851	NM_001382567.1(STIM1):c.2054C>T (p.Ala685Val)	LOC124418421, STIM1 (A654V +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2183240	NM_001382567.1(STIM1):c.2058GGA[1] (p.Glu687del)	LOC124418421, STIM1 (E580del +9 more)	Microsatellite (inframe_deletion +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 582365	NM_001382567.1(STIM1):c.2062G>A (p.Asp688Asn)	LOC124418421, STIM1 (D657N +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2051443	NM_001382567.1(STIM1):c.2063A>C (p.Asp688Ala)	LOC124418421, STIM1 (D612A +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 2169802	NM_001382567.1(STIM1):c.2064T>C (p.Asp688=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 2201520	NM_001382567.1(STIM1):c.2065A>G (p.Asn689Asp)	LOC124418421, STIM1 (N613D +9 more)	Single nucleotide variant (missense variant +2 more)	Stormorken syndrome +2 more	GUncertain significance
Select item 1937399	NM_001382567.1(STIM1):c.2068G>A (p.Gly690Ser)	LOC124418421, STIM1 (G499S +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1713322	NM_001382567.1(STIM1):c.2069G>A (p.Gly690Asp)	LOC124418421, STIM1 (G765D +9 more)	Single nucleotide variant (missense variant +2 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 2925865	NM_001382567.1(STIM1):c.2074A>G (p.Ile692Val)	LOC124418421, STIM1 (I498V +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 2083428	NM_001382567.1(STIM1):c.2075T>C (p.Ile692Thr)	LOC124418421, STIM1 (I661T +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance
Select item 1064128	NM_001382567.1(STIM1):c.2079C>T (p.Gly693=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GLikely benign
Select item 461728	NM_001382567.1(STIM1):c.2079C>A (p.Gly693=)	LOC124418421, STIM1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 2577774	NM_001382567.1(STIM1):c.2086A>G (p.Thr696Ala)	LOC124418421, STIM1 (T502A +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 1376063	NM_001382567.1(STIM1):c.2093C>G (p.Ser698Cys)	LOC124418421, STIM1 (S593C +9 more)	Single nucleotide variant (missense variant +2 more)	Myopathy with tubular aggregates +2 more	GUncertain significance
Select item 2927263	NM_001382567.1(STIM1):c.2098C>T (p.Pro700Ser)	LOC124418421, STIM1 (P506S +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +2 more	GUncertain significance

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