ClinVar for Gene (Select 93129) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206927	NM_152288.3(ORAI3):c.685C>T (p.Arg229Trp)	ORAI3 (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206926	NM_152288.3(ORAI3):c.575G>A (p.Arg192Gln)	ORAI3 (R192Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206925	NM_152288.3(ORAI3):c.550C>G (p.Pro184Ala)	ORAI3 (P184A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206924	NM_152288.3(ORAI3):c.473G>T (p.Gly158Val)	ORAI3 (G158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206923	NM_152288.3(ORAI3):c.439G>A (p.Val147Met)	ORAI3 (V147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601125	NM_152288.3(ORAI3):c.554C>T (p.Thr185Ile)	ORAI3 (T185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599891	NM_152288.3(ORAI3):c.59G>T (p.Ser20Ile)	LOC130058881, ORAI3 (S20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595808	NM_152288.3(ORAI3):c.91G>A (p.Val31Met)	ORAI3 (V31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543027	NM_152288.3(ORAI3):c.432C>A (p.His144Gln)	ORAI3 (H144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427156	NC_000016.9:g.(?_30712146)_(31021717_?)dup	FBXL19, HSD3B7 +10 more	Duplication	Generalized epilepsy with febrile seizures plus, type 9	GUncertain significance
Select item 2410514	NM_152288.3(ORAI3):c.259G>A (p.Asp87Asn)	ORAI3 (D87N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408372	NM_152288.3(ORAI3):c.627T>A (p.Asn209Lys)	ORAI3 (N209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385911	NM_152288.3(ORAI3):c.187G>A (p.Ala63Thr)	ORAI3 (A63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379822	NM_152288.3(ORAI3):c.674C>G (p.Ala225Gly)	ORAI3 (A225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271595	NM_152288.3(ORAI3):c.337C>T (p.Leu113Phe)	ORAI3 (L113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265555	NM_152288.3(ORAI3):c.610C>T (p.Leu204Phe)	ORAI3 (L204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240352	NM_152288.3(ORAI3):c.656C>T (p.Pro219Leu)	ORAI3 (P219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227340	NM_152288.3(ORAI3):c.310G>A (p.Val104Met)	ORAI3 (V104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211422	NM_152288.3(ORAI3):c.763G>A (p.Val255Met)	ORAI3 (V255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526506	GRCh37/hg19 16p11.2(chr16:30943854-31171177)	PRSS53, PRSS8 +12 more	Copy number loss	not specified	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687383	GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1	BCKDK, BCL7C +14 more	Copy number loss	not provided	GPathogenic
Select item 598742	Single allele	TGFB1I1, TRIM72 +38 more	Deletion	Branched-chain keto acid dehydrogenase kinase deficiency	GUncertain significance
Select item 443355	GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1	BCL7C, CFAP119 +18 more	Copy number loss	See cases	GUncertain significance
Select item 443135	GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1	BCKDK, FBXL19 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38