"Ambry Genetics"[submitter] AND "GCGR"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2377000	NM_000160.5(GCGR):c.8C>T (p.Pro3Leu)	GCGR (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291174	NM_000160.5(GCGR):c.53C>A (p.Ala18Asp)	GCGR (A18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377818	NM_000160.5(GCGR):c.161C>T (p.Thr54Met)	GCGR (T54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473934	NM_000160.5(GCGR):c.214C>G (p.Pro72Ala)	GCGR (P72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1545432	NM_000160.5(GCGR):c.227C>T (p.Thr76Met)	GCGR (T76M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2327834	NM_000160.5(GCGR):c.235A>G (p.Ile79Val)	GCGR (I79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388607	NM_000160.5(GCGR):c.262C>A (p.His88Asn)	GCGR (H88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405490	NM_000160.5(GCGR):c.319G>T (p.Val107Leu)	GCGR (V107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273057	NM_000160.5(GCGR):c.335G>A (p.Gly112Glu)	GCGR (G112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246197	NM_000160.5(GCGR):c.372T>G (p.Asp124Glu)	GCGR (D124E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215686	NM_000160.5(GCGR):c.421T>C (p.Phe141Leu)	GCGR (F141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394575	NM_000160.5(GCGR):c.515C>T (p.Thr172Ile)	GCGR (T172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099028	NM_000160.5(GCGR):c.536A>C (p.Asn179Thr)	GCGR (N179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207425	NM_000160.5(GCGR):c.553G>A (p.Val185Met)	GCGR (V185M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210630	NM_000160.5(GCGR):c.585T>G (p.Asp195Glu)	GCGR (D195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283648	NM_000160.5(GCGR):c.602G>C (p.Arg201Pro)	GCGR (R201P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344737	NM_000160.5(GCGR):c.753C>A (p.Asn251Lys)	GCGR (N251K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547092	NM_000160.5(GCGR):c.778G>A (p.Glu260Lys)	GCGR (E260K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281004	NM_000160.5(GCGR):c.811G>A (p.Gly271Ser)	GCGR (G271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543664	NM_000160.5(GCGR):c.818G>T (p.Gly273Val)	GCGR (G273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281003	NM_000160.5(GCGR):c.879G>A (p.Gln293=)	GCGR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2276582	NM_000160.5(GCGR):c.895G>A (p.Asp299Asn)	GCGR (D299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550749	NM_000160.5(GCGR):c.1063A>G (p.Ile355Val)	GCGR (I355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376784	NM_000160.5(GCGR):c.1072C>G (p.Leu358Val)	GCGR (L358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1442582	NM_000160.5(GCGR):c.1138G>A (p.Ala380Thr)	GCGR (A380T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3099026	NM_000160.5(GCGR):c.1235G>A (p.Arg412Gln)	GCGR (R412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355432	NM_000160.5(GCGR):c.1235G>T (p.Arg412Leu)	GCGR (R412L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1532573	NM_000160.5(GCGR):c.1247A>T (p.His416Leu)	GCGR (H416L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1382157	NM_000160.5(GCGR):c.1250G>A (p.Arg417His)	GCGR (R417H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2525066	NM_000160.5(GCGR):c.1343T>C (p.Leu448Pro)	GCGR (L448P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 30