"Ambry Genetics"[submitter] AND "LOC129992377"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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