ATAT1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 623426	NM_001413067.1(ATAT1):c.566T>G (p.Phe189Cys)	ATAT1 (F189C +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 3130760	NM_001413067.1(ATAT1):c.581A>G (p.His194Arg)	ATAT1 (H194R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254490	NM_001413067.1(ATAT1):c.608C>A (p.Ala203Glu)	ATAT1 (A191E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340655	NM_001413067.1(ATAT1):c.614G>A (p.Arg205Gln)	ATAT1 (R205Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593418	NM_001413067.1(ATAT1):c.799C>A (p.Pro267Thr)	ATAT1 (P244T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462137	NM_001413067.1(ATAT1):c.805C>G (p.Arg269Gly)	ATAT1 (R234G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398639	NM_001413067.1(ATAT1):c.805C>T (p.Arg269Cys)	ATAT1 (R234C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130761	NM_001413067.1(ATAT1):c.809C>T (p.Ser270Phe)	ATAT1 (S235F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130762	NM_001413067.1(ATAT1):c.848G>A (p.Arg283His)	ATAT1 (R260H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333677	NM_001413067.1(ATAT1):c.910G>A (p.Ala304Thr)	ATAT1 (A281T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455061	NM_001413067.1(ATAT1):c.956G>A (p.Arg319His)	ATAT1 (R284H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance