ClinVar for MedGen (Select 1639046) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802119	NM_003999.3(OSMR):c.1538G>A (p.Gly513Asp)	OSMR (G513D +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GUncertain significance
Select item 30222	NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr)	OSMR (K697T +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic
Select item 30221	NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)	OSMR (P694L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30220	NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)	OSMR (D647V +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic
Select item 7809	NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)	OSMR (G618A +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic
Select item 7808	NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)	OSMR (I691T +1 more)	Single nucleotide variant (missense variant)	Amyloidosis, primary localized cutaneous, 1	GPathogenic

ClinVar