GPR15[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 2276586	NM_005290.4(GPR15):c.47C>T (p.Thr16Met)	GPR15 (T16M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220612	NM_005290.4(GPR15):c.50G>A (p.Ser17Asn)	GPR15 (S17N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242494	NM_005290.4(GPR15):c.61G>A (p.Asp21Asn)	GPR15 (D21N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 548000	NM_005290.4(GPR15):c.194G>A (p.Arg65Gln)	GPR15 (R65Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2204538	NM_005290.4(GPR15):c.200T>G (p.Leu67Arg)	GPR15 (L67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265536	NM_005290.4(GPR15):c.222T>A (p.Asn74Lys)	GPR15 (N74K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208990	NM_005290.4(GPR15):c.300G>T (p.Arg100Ser)	GPR15 (R100S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767919	NM_005290.4(GPR15):c.334A>G (p.Met112Val)	GPR15 (M112V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2518472	NM_005290.4(GPR15):c.335T>A (p.Met112Lys)	GPR15 (M112K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276476	NM_005290.4(GPR15):c.347A>C (p.Asn116Thr)	GPR15 (N116T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653999	NM_005290.4(GPR15):c.366C>T (p.Leu122=)	GPR15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591477	NM_005290.4(GPR15):c.437G>A (p.Arg146Lys)	GPR15 (R146K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612631	NM_005290.4(GPR15):c.443A>G (p.Asp148Gly)	GPR15 (D148G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478253	NM_005290.4(GPR15):c.455T>C (p.Val152Ala)	GPR15 (V152A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791939	NM_005290.4(GPR15):c.738C>T (p.Val246=)	GPR15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2286930	NM_005290.4(GPR15):c.755T>A (p.Val252Asp)	GPR15 (V252D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 814467	GRCh37/hg19 3q11.2(chr3:97994048-98260542)x3	OR5K4, CLDND1 +5 more	Copy number gain	not provided	GLikely benign
Select item 814466	GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)x3	OR5H2, OR5H6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 29