C5231463[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234941	NM_014698.3(TMEM63A):c.2257G>A (p.Val753Met)	TMEM63A (V753M)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance
Select item 2585427	NM_014698.3(TMEM63A):c.887G>A (p.Arg296Gln)	TMEM63A (R296Q)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 19, transient infantile	GUncertain significance