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

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2614447	NM_033064.5(ATCAY):c.11C>T (p.Thr4Ile)	ATCAY (T4I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130766	NM_033064.5(ATCAY):c.59A>T (p.Gln20Leu)	ATCAY (Q20L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293427	NM_033064.5(ATCAY):c.97G>A (p.Gly33Arg)	ATCAY (G33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397462	NM_033064.5(ATCAY):c.295G>A (p.Glu99Lys)	ATCAY (E99K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491664	NM_033064.5(ATCAY):c.361G>A (p.Asp121Asn)	ATCAY (D121N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459935	NM_033064.5(ATCAY):c.374C>T (p.Ala125Val)	ATCAY (A125V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328327	NM_033064.5(ATCAY):c.397G>A (p.Asp133Asn)	ATCAY (D133N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 518300	NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr)	ATCAY (A148T)	Single nucleotide variant (missense variant)	Cayman type cerebellar ataxia +1 more	GUncertain significance
Select item 2343744	NM_033064.5(ATCAY):c.445G>A (p.Ala149Thr)	ATCAY (A149T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130765	NM_033064.5(ATCAY):c.451G>A (p.Gly151Arg)	ATCAY (G151R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562484	NM_033064.5(ATCAY):c.464G>A (p.Arg155Gln)	ATCAY (R155Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212431	NM_033064.5(ATCAY):c.532G>A (p.Val178Ile)	ATCAY (V178I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593167	NM_033064.5(ATCAY):c.556G>A (p.Glu186Lys)	ATCAY (E186K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411911	NM_033064.5(ATCAY):c.560G>C (p.Gly187Ala)	ATCAY (G187A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269827	NM_033064.5(ATCAY):c.571A>G (p.Ile191Val)	ATCAY (I191V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562630	NM_033064.5(ATCAY):c.577G>A (p.Val193Ile)	ATCAY (V193I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212863	NM_033064.5(ATCAY):c.583G>A (p.Ala195Thr)	ATCAY (A195T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266362	NM_033064.5(ATCAY):c.613C>T (p.Pro205Ser)	ATCAY (P205S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465110	NM_033064.5(ATCAY):c.616G>A (p.Asp206Asn)	ATCAY (D206N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130768	NM_033064.5(ATCAY):c.692T>C (p.Met231Thr)	ATCAY (M231T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472611	NM_033064.5(ATCAY):c.703C>A (p.Leu235Met)	ATCAY (L235M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298463	NM_033064.5(ATCAY):c.709G>A (p.Gly237Ser)	ATCAY (G237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472718	NM_033064.5(ATCAY):c.742G>A (p.Gly248Ser)	ATCAY (G248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130769	NM_033064.5(ATCAY):c.757T>A (p.Cys253Ser)	ATCAY (C253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130770	NM_033064.5(ATCAY):c.776G>A (p.Arg259Gln)	ATCAY (R259Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619161	NM_033064.5(ATCAY):c.859T>G (p.Phe287Val)	ATCAY (F287V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549653	NM_033064.5(ATCAY):c.898C>T (p.His300Tyr)	ATCAY (H300Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262604	NM_033064.5(ATCAY):c.971A>G (p.Glu324Gly)	ATCAY (E324G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130771	NM_033064.5(ATCAY):c.992G>A (p.Arg331Lys)	ATCAY (R331K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130763	NM_033064.5(ATCAY):c.1016C>T (p.Pro339Leu)	ATCAY (P339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 30