C5394137[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	Harel-Yoon syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1199193	NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp)	ATAD3A (R138W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +3 more	GUncertain significance
Select item 1694480	NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser)	ATAD3A (A137S +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +2 more	GLikely benign
Select item 733799	NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=)	ATAD3A	Single nucleotide variant (synonymous variant)	Harel-Yoon syndrome +2 more	GLikely benign
Select item 733800	NM_001170535.3(ATAD3A):c.750+10C>A	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome +2 more	GLikely benign
Select item 1199195	NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter)	ATAD3A (K279* +2 more)	Single nucleotide variant (nonsense)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 786445	NM_001170535.3(ATAD3A):c.1215-6T>C	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome +2 more	GBenign/Likely benign
Select item 791766	NM_001170535.3(ATAD3A):c.1267-8C>G	ATAD3A	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +2 more	GBenign/Likely benign
Select item 1213716	NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp)	ATAD3A (S447W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +2 more	GUncertain significance
Select item 733801	NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=)	ATAD3A	Single nucleotide variant (synonymous variant)	Harel-Yoon syndrome +2 more	GLikely benign