ClinVar for MedGen (Select 1677024) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582844	NM_000160.5(GCGR):c.463del (p.Ala155fs)	GCGR (A155fs)	Deletion (frameshift variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 2582843	NM_000160.5(GCGR):c.247del (p.Trp83fs)	GCGR (W83fs)	Deletion (frameshift variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 2432080	NM_000160.5(GCGR):c.701G>A (p.Gly234Asp)	GCGR (G234D)	Single nucleotide variant (missense variant)	GCGR-related hyperglucagonemia	GUncertain significance
Select item 1064739	NM_000160.5(GCGR):c.187G>A (p.Asp63Asn)	GCGR (D63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064738	NM_000160.5(GCGR):c.879-1G>A	GCGR	Single nucleotide variant (splice acceptor variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 1064737	NM_000160.5(GCGR):c.[1102G>A;674G>A]	GCGR (R225H +1 more)	Single nucleotide variant (missense variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 1064736	GCGR, GLN327TER	GCGR	Variation	GCGR-related hyperglucagonemia	GPathogenic
Select item 1064735	GCGR, ARG8TER	GCGR	Variation	GCGR-related hyperglucagonemia	GPathogenic
Select item 1064734	GCGR, 1-BP INS, EX4	GCGR	Insertion	GCGR-related hyperglucagonemia	GPathogenic
Select item 1064733	NM_000160.5(GCGR):c.256C>T (p.Pro86Ser)	GCGR (P86S)	Single nucleotide variant (missense variant)	GCGR-related hyperglucagonemia	GPathogenic
Select item 592589	NM_000160.5(GCGR):c.955TTC[1] (p.Phe320del)	GCGR (F320del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance