ClinVar for Gene (Select 9340) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281625	NM_004246.3(GLP2R):c.1561C>G (p.His521Asp)	GLP2R (H521D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281624	NM_004246.3(GLP2R):c.1361T>G (p.Phe454Cys)	GLP2R (F454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100321	NM_004246.3(GLP2R):c.893G>A (p.Arg298Gln)	GLP2R (R298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100320	NM_004246.3(GLP2R):c.781C>T (p.Arg261Cys)	GLP2R (R261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100319	NM_004246.3(GLP2R):c.449C>T (p.Thr150Met)	GLP2R (T150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100318	NM_004246.3(GLP2R):c.43G>A (p.Ala15Thr)	GLP2R (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100317	NM_004246.3(GLP2R):c.31G>A (p.Gly11Arg)	GLP2R (G11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100316	NM_004246.3(GLP2R):c.1415G>A (p.Arg472Gln)	GLP2R (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100315	NM_004246.3(GLP2R):c.1373G>A (p.Arg458His)	GLP2R (R458H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2592796	NM_004246.3(GLP2R):c.512G>A (p.Arg171His)	GLP2R (R171H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2514718	NM_004246.3(GLP2R):c.1565C>A (p.Ala522Glu)	GLP2R (A522E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493458	NM_004246.3(GLP2R):c.1117C>A (p.Gln373Lys)	GLP2R (Q373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481375	NM_004246.3(GLP2R):c.1372C>T (p.Arg458Cys)	GLP2R (R458C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477577	NM_004246.3(GLP2R):c.985G>A (p.Gly329Arg)	GLP2R (G329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461421	NM_004246.3(GLP2R):c.964C>T (p.Arg322Cys)	GLP2R (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405916	NM_004246.3(GLP2R):c.67G>A (p.Glu23Lys)	GLP2R (E23K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369545	NM_004246.3(GLP2R):c.689T>C (p.Val230Ala)	GLP2R (V230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359709	NM_004246.3(GLP2R):c.1016T>G (p.Ile339Ser)	GLP2R (I339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333160	NM_004246.3(GLP2R):c.1577G>A (p.Arg526Gln)	GLP2R (R526Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323815	NM_004246.3(GLP2R):c.697G>A (p.Val233Ile)	GLP2R (V233I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299539	NM_004246.3(GLP2R):c.583C>G (p.Leu195Val)	GLP2R (L195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285391	NM_004246.3(GLP2R):c.1358G>A (p.Arg453His)	GLP2R (R453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284701	NM_004246.3(GLP2R):c.1122G>A (p.Met374Ile)	GLP2R (M374I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270382	NM_004246.3(GLP2R):c.1483C>A (p.Pro495Thr)	GLP2R (P495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264548	NM_004246.3(GLP2R):c.1597T>A (p.Cys533Ser)	GLP2R (C533S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264058	NM_004246.3(GLP2R):c.11G>A (p.Gly4Glu)	GLP2R (G4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244526	NM_004246.3(GLP2R):c.671G>A (p.Arg224Lys)	GLP2R (R224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807887	GRCh37/hg19 17p13.1(chr17:9695852-10118691)x3	GAS7, GLP2R +1 more	Copy number gain	not provided	GUncertain significance
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 832118	NC_000017.11:g.(?_9794928)_(10547930_?)del	GAS7, GLP2R +6 more	Deletion	Myopathy, proximal, and ophthalmoplegia	GPathogenic
Select item 790714	NM_004246.3(GLP2R):c.1543G>A (p.Ala515Thr)	GLP2R (A515T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790177	NM_004246.3(GLP2R):c.764A>C (p.Glu255Ala)	GLP2R (E255A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785553	NM_004246.3(GLP2R):c.1414C>T (p.Arg472Trp)	GLP2R (R472W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783771	NM_004246.3(GLP2R):c.291C>T (p.Asn97=)	GLP2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781256	NM_004246.3(GLP2R):c.1568G>A (p.Arg523His)	GLP2R (R523H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781255	NM_004246.3(GLP2R):c.627G>A (p.Thr209=)	GLP2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781254	NM_004246.3(GLP2R):c.65A>T (p.His22Leu)	GLP2R (H22L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734846	NM_004246.3(GLP2R):c.271C>G (p.Pro91Ala)	GLP2R (P91A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 393837	GRCh37/hg19 17p13.1(chr17:9751024-9804265)x3	GLP2R, RCVRN	Copy number gain	See cases	GUncertain significance
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221346	Single allele	ADORA2B, ADPRM +41 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51