"Ambry Genetics"[submitter] AND "ATAD1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1486458	NM_001321967.2(ATAD1):c.1055A>C (p.Gln352Pro)	ATAD1 (Q233P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1991299	NM_001321967.2(ATAD1):c.1013G>A (p.Arg338Gln)	ATAD1 (R308Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2264040	NM_001321967.2(ATAD1):c.970G>T (p.Asp324Tyr)	ATAD1 (D294Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1515208	NM_001321967.2(ATAD1):c.868G>A (p.Glu290Lys)	ATAD1 (E260K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1482588	NM_001321967.2(ATAD1):c.860T>C (p.Val287Ala)	ATAD1 (V287A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2281651	NM_001321967.2(ATAD1):c.814A>T (p.Ile272Phe)	ATAD1 (I153F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1496458	NM_001321967.2(ATAD1):c.767A>T (p.His256Leu)	ATAD1 (H137L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2296759	NM_001321967.2(ATAD1):c.395A>G (p.Tyr132Cys)	ATAD1 (Y13C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556679	NM_001321967.2(ATAD1):c.224G>A (p.Ser75Asn)	ATAD1 (S75N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1381375	NM_001321967.2(ATAD1):c.163G>A (p.Ala55Thr)	ATAD1 (A55T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364221	NM_001321967.2(ATAD1):c.121A>G (p.Ile41Val)	ATAD1 (I41V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance