"Ambry Genetics"[submitter] AND "CORO1A"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269009	NM_007074.4(CORO1A):c.223C>T (p.Pro75Ser)	CORO1A (P75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233467	NM_007074.4(CORO1A):c.292G>A (p.Ala98Thr)	CORO1A (A98T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269007	NM_007074.4(CORO1A):c.356C>G (p.Pro119Arg)	CORO1A (P119R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308262	NM_007074.4(CORO1A):c.361C>T (p.Arg121Trp)	CORO1A (R121W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848351	NM_007074.4(CORO1A):c.373G>T (p.Val125Phe)	CORO1A (V125F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 998636	NM_007074.4(CORO1A):c.557G>A (p.Arg186Gln)	CORO1A, LOC121587541 (R186Q)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GUncertain significance
Select item 1002221	NM_007074.4(CORO1A):c.580T>A (p.Ser194Thr)	CORO1A, LOC121587541 (S194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2466890	NM_007074.4(CORO1A):c.631G>A (p.Val211Ile)	CORO1A, LOC121587541 (V211I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338636	NM_007074.4(CORO1A):c.664C>T (p.Arg222Trp)	CORO1A, LOC121587541 (R222W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265943	NM_007074.4(CORO1A):c.679G>C (p.Val227Leu)	CORO1A, LOC121587541 (V227L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529549	NM_007074.4(CORO1A):c.721C>T (p.Arg241Cys)	CORO1A, LOC121587541 (R241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 863579	NM_007074.4(CORO1A):c.844G>C (p.Val282Leu)	CORO1A (V282L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GUncertain significance
Select item 1063698	NM_007074.4(CORO1A):c.877C>T (p.Arg293Trp)	CORO1A (R293W)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GUncertain significance
Select item 2265373	NM_007074.4(CORO1A):c.1023C>A (p.His341Gln)	CORO1A (H341Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3269010	NM_007074.4(CORO1A):c.1105G>A (p.Gly369Arg)	CORO1A (G369R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299849	NM_007074.4(CORO1A):c.1168A>C (p.Ile390Leu)	CORO1A (I390L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617044	NM_007074.4(CORO1A):c.1195C>A (p.Pro399Thr)	CORO1A (P399T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 953260	NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg)	CORO1A (G413R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency +2 more	GUncertain significance
Select item 3076365	NM_007074.4(CORO1A):c.1241G>A (p.Arg414His)	CORO1A (R414H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475959	NM_007074.4(CORO1A):c.1271C>G (p.Thr424Ser)	CORO1A (T424S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 652337	NM_007074.4(CORO1A):c.1280C>T (p.Ser427Leu)	CORO1A (S427L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency +1 more	GUncertain significance

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Items: 21