"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ATAD3B"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2638014	NM_031921.6(ATAD3B):c.430C>T (p.Gln144Ter)	ATAD3B (Q144* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2638015	NM_031921.6(ATAD3B):c.571A>G (p.Thr191Ala)	ATAD3B (T145A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638016	NM_031921.6(ATAD3B):c.777C>T (p.Val259=)	ATAD3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206350	NM_031921.6(ATAD3B):c.821T>A (p.Phe274Tyr)	ATAD3B (F228Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638017	NM_031921.6(ATAD3B):c.1638C>T (p.Asp546=)	ATAD3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638018	NM_031921.6(ATAD3B):c.1816T>C (p.Cys606Arg)	ATAD3B (C560R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638019	NC_000001.11:g.1509223G>A	ATAD3A, ATAD3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 3024570	GRCh37/hg19 1p36.33(chr1:1386064-1431197)x0	ATAD3B, ATAD3C	Copy number loss	not provided	GLikely benign
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic

ClinVar