"Ambry Genetics"[submitter] AND "RBPMS2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2361324	NM_194272.3(RBPMS2):c.616C>A (p.Arg206Ser)	RBPMS2 (R206S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228038	NM_194272.3(RBPMS2):c.544G>A (p.Ala182Thr)	RBPMS2 (A182T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592489	NM_194272.3(RBPMS2):c.503C>T (p.Ala168Val)	RBPMS2 (A168V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620388	NM_194272.3(RBPMS2):c.469C>A (p.Pro157Thr)	RBPMS2 (P157T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539677	NM_194272.3(RBPMS2):c.439C>G (p.Leu147Val)	RBPMS2 (L147V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305277	NM_194272.3(RBPMS2):c.376G>A (p.Val126Met)	RBPMS2 (V126M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343395	NM_194272.3(RBPMS2):c.154C>T (p.Arg52Trp)	RBPMS2 (R52W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588175	NM_194272.3(RBPMS2):c.91C>T (p.Arg31Trp)	RBPMS2 (R31W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance