"Baylor Genetics"[submitter] AND "ATAD3A"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442051	NM_001170535.3(ATAD3A):c.131A>G (p.Lys44Arg)	ATAD3A (K44R)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1032689	NM_001170535.3(ATAD3A):c.283-158G>A	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1029208	NM_001170535.3(ATAD3A):c.515-4G>C	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1033348	NM_001170535.3(ATAD3A):c.521T>G (p.Val174Gly)	ATAD3A (V95G +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1029209	NM_001170535.3(ATAD3A):c.700G>A (p.Gly234Arg)	ATAD3A (G155R +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1029210	NM_001170535.3(ATAD3A):c.739G>A (p.Val247Met)	ATAD3A (V168M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2442057	NM_001170535.3(ATAD3A):c.1384G>A (p.Ala462Thr)	ATAD3A (A383T +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GUncertain significance
Select item 1032687	NM_001170535.3(ATAD3A):c.1487C>T (p.Pro496Leu)	ATAD3A (P417L +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 2442013	NM_001170535.3(ATAD3A):c.1577C>T (p.Ser526Leu)	ATAD3A (S447L +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1032688	NM_001170535.3(ATAD3A):c.1633G>A (p.Glu545Lys)	ATAD3A (E466K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 625768	GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	CFAP74, CPTP +62 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625767	GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	MEGF6, MIB2 +71 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic