"Ambry Genetics"[submitter] AND "PRM2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2217194	NM_002762.4(PRM2):c.293C>G (p.Thr98Arg)	PRM2 (T98R +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2475667	NM_002762.4(PRM2):c.257G>A (p.Arg86Lys)	PRM2 (R86K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2531047	NM_002762.4(PRM2):c.254G>A (p.Arg85Gln)	PRM2 (R85Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2540830	NM_002762.4(PRM2):c.229C>T (p.Arg77Cys)	PRM2 (R77C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2537194	NM_002762.4(PRM2):c.121G>A (p.Val41Ile)	PRM2 (V41I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217992	NM_002762.4(PRM2):c.94G>A (p.Glu32Lys)	PRM2 (E32K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604518	NM_002762.4(PRM2):c.60G>T (p.Gln20His)	PRM2 (Q20H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293299	NM_002762.4(PRM2):c.31G>A (p.Glu11Lys)	PRM2 (E11K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475082	NM_002762.4(PRM2):c.14G>A (p.Arg5His)	PRM2 (R5H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383443	NM_002762.4(PRM2):c.8G>A (p.Arg3Gln)	PRM2 (R3Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance