C0341306[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 1339137	NM_001080467.3(MYO5B):c.1591C>T (p.Arg531Trp)	MYO5B (R531W)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy +1 more	GUncertain significance
Select item 1339136	NM_001080467.3(MYO5B):c.311-1G>C	MYO5B	Single nucleotide variant (splice acceptor variant)	Congenital microvillous atrophy	GLikely pathogenic
Select item 1339168	NM_001080467.3(MYO5B):c.242A>G (p.His81Arg)	MYO5B (H81R)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy	GUncertain significance

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ClinVar