ClinVar for MedGen (Select 1723598) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683644	NM_006854.4(KDELR2):c.505C>T (p.Arg169Cys)	KDELR2 (R169C)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta, type 21	GUncertain significance
Select item 1119977	NM_006854.4(KDELR2):c.485A>G (p.Tyr162Cys)	KDELR2 (Y162C)	Single nucleotide variant (intron variant +1 more)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 1119976	NM_006854.4(KDELR2):c.13C>T (p.Arg5Trp)	KDELR2, LOC129997936 (R5W)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 988964	NM_006854.4(KDELR2):c.360G>A (p.Trp120Ter)	KDELR2 (W120*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 988963	NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu)	KDELR2 (P133L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta, type 21	GPathogenic
Select item 988962	NM_006854.4(KDELR2):c.34C>G (p.His12Asp)	KDELR2, LOC129997936 (H12D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 988961	NM_006854.4(KDELR2):c.448dup (p.His150fs)	KDELR2 (H150fs)	Duplication (frameshift variant +1 more)	Osteogenesis imperfecta, type 21	GPathogenic

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