ClinVar for OMIM (Select 612177) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065610	NM_016310.5(POLR3K):c.121C>T (p.Arg41Trp)	POLR3K (R41W)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 21	GPathogenic
Select item 31660	NM_006947.4(SRP72):c.620G>A (p.Arg207His)	SRP72 (R207H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31659	NM_006947.4(SRP72):c.1064_1065del (p.Thr355fs)	SRP72 (T355fs +1 more)	Microsatellite (frameshift variant +1 more)	Autosomal dominant aplasia and myelodysplasia	GPathogenic

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