ClinVar for Gene (Select 2740) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100314	NM_002062.5(GLP1R):c.470C>T (p.Ser157Phe)	GLP1R (S157F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100312	NM_002062.5(GLP1R):c.1122C>A (p.His374Gln)	GLP1R (H374Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2684445	GRCh37/hg19 6p21.2(chr6:39054113-40272338)x3	DAAM2, GLP1R +6 more	Copy number gain	not provided	GUncertain significance
Select item 2591603	NM_002062.5(GLP1R):c.247G>A (p.Val83Ile)	GLP1R (V83I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394878	NM_002062.5(GLP1R):c.441C>G (p.Ile147Met)	GLP1R (I147M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394513	NM_002062.5(GLP1R):c.856A>G (p.Ile286Val)	GLP1R (I286V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376986	NM_002062.5(GLP1R):c.1280T>A (p.Ile427Asn)	GLP1R (I427N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359371	NM_002062.5(GLP1R):c.14C>T (p.Pro5Leu)	GLP1R (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358690	NM_002062.5(GLP1R):c.1346C>T (p.Ala449Val)	GLP1R (A449V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2342767	NM_002062.5(GLP1R):c.802C>T (p.Leu268Phe)	GLP1R (L268F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318341	NM_002062.5(GLP1R):c.137G>A (p.Cys46Tyr)	GLP1R (C46Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313490	NM_002062.5(GLP1R):c.364G>T (p.Asp122Tyr)	GLP1R (D122Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253347	NM_002062.5(GLP1R):c.1261C>T (p.Arg421Trp)	GLP1R (R421W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249913	NM_002062.5(GLP1R):c.32C>A (p.Ala11Glu)	GLP1R (A11E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246064	NM_002062.5(GLP1R):c.130C>T (p.Arg44Cys)	GLP1R (R44C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225804	NM_002062.5(GLP1R):c.806A>G (p.Tyr269Cys)	GLP1R (Y269C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223806	NM_002062.5(GLP1R):c.518A>G (p.His173Arg)	GLP1R (H173R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215052	NM_002062.5(GLP1R):c.988A>G (p.Ile330Val)	GLP1R (I330V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214896	NM_002062.5(GLP1R):c.241G>A (p.Val81Met)	GLP1R (V81M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340130	GRCh37/hg19 6p21.2(chr6:38830410-39034515)x1	DNAH8, GLP1R	Copy number loss	not provided	GUncertain significance
Select item 789746	NM_002062.5(GLP1R):c.565C>T (p.Leu189=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 787828	NM_002062.5(GLP1R):c.237G>A (p.Ser79=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 780621	NM_002062.5(GLP1R):c.573A>G (p.Ala191=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779910	NM_002062.5(GLP1R):c.144C>G (p.Arg48=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774310	NM_002062.5(GLP1R):c.1122C>T (p.His374=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768087	NM_002062.5(GLP1R):c.297C>T (p.His99=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 738410	NM_002062.5(GLP1R):c.501C>T (p.Leu167=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 730218	NM_002062.5(GLP1R):c.131G>A (p.Arg44His)	GLP1R (R44H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712621	NM_002062.5(GLP1R):c.327C>T (p.Leu109=)	GLP1R	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 35