NPY2R[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 155550	GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3	LOC129993250, LOC129993251 +115 more	Copy number gain	See cases	GLikely pathogenic
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 3300884	NM_000910.4(NPY2R):c.38C>G (p.Thr13Arg)	NPY2R (T13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729523	NM_000910.4(NPY2R):c.64T>C (p.Tyr22His)	NPY2R (Y22H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201838	NM_000910.4(NPY2R):c.77C>A (p.Thr26Lys)	NPY2R (T26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279625	NM_000910.4(NPY2R):c.115G>C (p.Glu39Gln)	NPY2R (E39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776026	NM_000910.4(NPY2R):c.159C>T (p.Leu53=)	NPY2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472430	NM_000910.4(NPY2R):c.197T>C (p.Ile66Thr)	NPY2R (I66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256462	NM_000910.4(NPY2R):c.328T>C (p.Tyr110His)	NPY2R (Y110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735705	NM_000910.4(NPY2R):c.366G>A (p.Leu122=)	NPY2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309979	NM_000910.4(NPY2R):c.443G>A (p.Arg148Gln)	NPY2R (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243506	NM_000910.4(NPY2R):c.494G>A (p.Ser165Asn)	NPY2R (S165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778315	NM_000910.4(NPY2R):c.514G>A (p.Ala172Thr)	NPY2R (A172T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2621545	NM_000910.4(NPY2R):c.550G>A (p.Ala184Thr)	NPY2R (A184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333452	NM_000910.4(NPY2R):c.598A>T (p.Ile200Phe)	NPY2R (I200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238275	NM_000910.4(NPY2R):c.639C>A (p.Ser213Arg)	NPY2R (S213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719094	NM_000910.4(NPY2R):c.654C>G (p.Val218=)	NPY2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3300882	NM_000910.4(NPY2R):c.722G>A (p.Arg241His)	NPY2R (R241H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201839	NM_000910.4(NPY2R):c.911A>G (p.Lys304Arg)	NPY2R (K304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725104	NM_000910.4(NPY2R):c.978C>T (p.Gly326=)	NPY2R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717287	NM_000910.4(NPY2R):c.1034G>A (p.Arg345Gln)	NPY2R (R345Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3300881	NM_000910.4(NPY2R):c.1047T>G (p.Ile349Met)	NPY2R (I349M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475687	NM_000910.4(NPY2R):c.1107T>G (p.Ser369Arg)	NPY2R (S369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751954	NM_000910.4(NPY2R):c.1110C>A (p.Gly370=)	NPY2R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337889	NM_000910.4(NPY2R):c.1111C>A (p.Pro371Thr)	NPY2R (P371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300883	NM_000910.4(NPY2R):c.1135A>G (p.Thr379Ala)	NPY2R (T379A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 980702	GRCh37/hg19 4q31.3-32.1(chr4:155528674-156370083)x3	MAP9, NPY2R +3 more	Copy number gain	not provided	GLikely benign
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 56