C4310677[trait identifier] AND "Hadassah Hebrew University Medical Cen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 992485	NM_001170535.3(ATAD3A):c.150C>G (p.Phe50Leu)	ATAD3A (F50L)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +3 more	GConflicting classifications of pathogenicity
Select item 1077177	NM_001170535.3(ATAD3A):c.282+484_444+231del	ATAD3A	Deletion (splice acceptor variant +1 more)	Harel-Yoon syndrome	GPathogenic
Select item 992486	NM_001170535.3(ATAD3A):c.508C>T (p.Arg170Trp)	ATAD3A (R170W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992487	NM_001170535.3(ATAD3A):c.707G>T (p.Gly236Val)	ATAD3A (G157V +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992488	NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro)	ATAD3A (R248P +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992489	NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs)	ATAD3A (V302fs +2 more)	Duplication (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 992490	NM_001170535.3(ATAD3A):c.1414del (p.His472fs)	ATAD3A (H393fs +2 more)	Deletion (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 992491	NM_001170535.3(ATAD3A):c.1700AGA[1] (p.Lys568del)	ATAD3A (K489del +2 more)	Microsatellite (inframe_deletion)	Harel-Yoon syndrome	GUncertain significance
Select item 992495	Single allele	ATAD3A, ATAD3B	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 992494	Single allele	ATAD3A, ATAD3B	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 992493	Single allele	ATAD3A, ATAD3B	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 992492	Single allele	ATAD3A, ATAD3B +1 more	Deletion	Harel-Yoon syndrome	GPathogenic