"Ambry Genetics"[submitter] AND "RHD"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2286895	NM_016124.6(RHD):c.541C>G (p.Leu181Val)	RHD, RSRP1 (L15V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154039	NM_016124.6(RHD):c.590A>C (p.Asp197Ala)	RHD, RSRP1 (D31A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154040	NM_016124.6(RHD):c.608C>T (p.Thr203Met)	RHD, RSRP1 (T203M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319901	NM_016124.6(RHD):c.671A>C (p.Asn224Thr)	RHD, RSRP1 (N224T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301305	NM_016124.6(RHD):c.785A>G (p.Gln262Arg)	RHD, RSRP1 (Q262R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2377498	NM_016124.6(RHD):c.795C>G (p.Ile265Met)	RHD, RSRP1 (I99M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314204	NM_016124.6(RHD):c.965T>G (p.Ile322Ser)	RHD, RSRP1 (I156S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3154038	NM_016124.6(RHD):c.1225A>G (p.Lys409Glu)	RHD, RSRP1 (K243E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign