STIM2[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 2246778	NM_020860.4(STIM2):c.43T>C (p.Cys15Arg)	LOC129992377, STIM2 (C15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171206	NM_020860.4(STIM2):c.56C>T (p.Pro19Leu)	LOC129992377, STIM2 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560215	NM_020860.4(STIM2):c.56C>G (p.Pro19Arg)	LOC129992377, STIM2 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264336	NM_020860.4(STIM2):c.61C>A (p.His21Asn)	LOC129992377, STIM2 (H21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328602	NM_020860.4(STIM2):c.64C>T (p.Leu22Phe)	LOC129992377, STIM2 (L22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375725	NM_020860.4(STIM2):c.68G>A (p.Arg23His)	LOC129992377, STIM2 (R23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308315	NM_020860.4(STIM2):c.95C>T (p.Ala32Val)	LOC129992377, STIM2 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323235	NM_020860.4(STIM2):c.107C>T (p.Ser36Phe)	LOC129992377, STIM2 (S36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285911	NM_020860.4(STIM2):c.142C>T (p.Leu48Phe)	LOC129992377, STIM2 (L48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325076	NM_020860.4(STIM2):c.145A>G (p.Met49Val)	LOC129992377, STIM2 (M49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553457	NM_020860.4(STIM2):c.146T>A (p.Met49Lys)	LOC129992377, STIM2 (M49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268587	NM_020860.4(STIM2):c.211G>A (p.Ala71Thr)	STIM2 (A71T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616714	NM_020860.4(STIM2):c.233A>G (p.Gln78Arg)	STIM2 (Q78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240467	NM_020860.4(STIM2):c.346G>A (p.Asp116Asn)	STIM2 (D116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323238	NM_020860.4(STIM2):c.353A>G (p.His118Arg)	STIM2 (H118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565353	NM_020860.4(STIM2):c.454C>G (p.Pro152Ala)	STIM2 (P152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610777	NM_020860.4(STIM2):c.485A>G (p.Asn162Ser)	STIM2 (N162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312640	NM_020860.4(STIM2):c.497C>T (p.Thr166Met)	STIM2 (T166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343363	NM_020860.4(STIM2):c.542C>A (p.Ser181Tyr)	STIM2 (S181Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244073	NM_020860.4(STIM2):c.640T>A (p.Trp214Arg)	STIM2 (W214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365796	NM_020860.4(STIM2):c.707C>T (p.Thr236Met)	STIM2 (T236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330237	NM_020860.4(STIM2):c.863G>A (p.Arg288His)	STIM2 (R288H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386013	NM_020860.4(STIM2):c.884A>G (p.Asn295Ser)	STIM2 (N295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456794	NM_020860.4(STIM2):c.892A>G (p.Lys298Glu)	STIM2 (K298E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247854	NM_020860.4(STIM2):c.905G>A (p.Cys302Tyr)	STIM2 (C302Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171208	NM_020860.4(STIM2):c.907C>T (p.Arg303Trp)	STIM2 (R303W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239650	NM_020860.4(STIM2):c.1031G>A (p.Ser344Asn)	STIM2 (S344N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591695	NM_020860.4(STIM2):c.1100A>G (p.Asn367Ser)	STIM2 (N367S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323237	NM_020860.4(STIM2):c.1251G>C (p.Lys417Asn)	STIM2 (K425N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557809	NM_020860.4(STIM2):c.1298G>A (p.Arg433His)	STIM2 (R441H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323234	NM_020860.4(STIM2):c.1333A>G (p.Ile445Val)	STIM2 (I445V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654705	NM_020860.4(STIM2):c.1362G>T (p.Leu454=)	STIM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3323236	NM_020860.4(STIM2):c.1367C>T (p.Ser456Phe)	STIM2 (S456F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526129	NM_020860.4(STIM2):c.1481A>G (p.Gln494Arg)	STIM2 (Q502R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218627	NM_020860.4(STIM2):c.1540C>T (p.Arg514Cys)	STIM2 (R514C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341225	NM_020860.4(STIM2):c.1547G>A (p.Arg516His)	STIM2 (R524H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481147	NM_020860.4(STIM2):c.1561C>T (p.Pro521Ser)	STIM2 (P529S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246317	NM_020860.4(STIM2):c.1603G>T (p.Ala535Ser)	STIM2 (A535S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379900	NM_020860.4(STIM2):c.1613C>T (p.Pro538Leu)	STIM2 (P538L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233379	NM_020860.4(STIM2):c.1625G>A (p.Arg542Gln)	STIM2 (R550Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220360	NM_020860.4(STIM2):c.1628A>C (p.His543Pro)	STIM2 (H543P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381060	NM_020860.4(STIM2):c.1667C>T (p.Ser556Phe)	STIM2 (S564F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171203	NM_020860.4(STIM2):c.1712A>T (p.Tyr571Phe)	STIM2 (Y571F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323233	NM_020860.4(STIM2):c.1736C>A (p.Ala579Asp)	STIM2 (A587D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356465	NM_020860.4(STIM2):c.1796C>T (p.Ser599Phe)	STIM2 (S607F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171204	NM_020860.4(STIM2):c.1813G>A (p.Gly605Arg)	STIM2 (G605R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171205	NM_020860.4(STIM2):c.1919C>T (p.Ser640Leu)	STIM2 (S648L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2369689	NM_020860.4(STIM2):c.1970C>T (p.Thr657Ile)	STIM2 (T657I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394797	NM_020860.4(STIM2):c.2080C>T (p.Arg694Cys)	STIM2 (R694C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474926	NM_020860.4(STIM2):c.2081G>T (p.Arg694Leu)	STIM2 (R702L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527034	NM_020860.4(STIM2):c.2147G>A (p.Arg716Lys)	STIM2 (R724K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2517318	NM_020860.4(STIM2):c.2209A>G (p.Ile737Val)	STIM2 (I745V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2257847	NM_020860.4(STIM2):c.2234C>G (p.Ser745Cys)	STIM2 (S745C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 980665	GRCh37/hg19 4p15.2(chr4:26326650-27059065)x3	CCKAR, RBPJ +2 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253450	GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	ZCCHC4, RBPJ +14 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic

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Items: 85