"Ambry Genetics"[submitter] AND "R3HDML-AS1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2380528	NM_178491.4(R3HDML):c.646G>A (p.Glu216Lys)	R3HDML, R3HDML-AS1 (E216K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568370	NM_178491.4(R3HDML):c.653C>T (p.Pro218Leu)	R3HDML, R3HDML-AS1 (P218L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance