VN1R2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 151480	GRCh38/hg38 19q13.42(chr19:53159246-53289022)x3	LOC112553113, LOC130065072 +5 more	Copy number gain	See cases	GLikely benign
Select item 2406826	NM_173856.2(VN1R2):c.136A>G (p.Thr46Ala)	VN1R2 (T46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650409	NM_173856.2(VN1R2):c.145C>T (p.Arg49Cys)	VN1R2 (R49C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2397664	NM_173856.2(VN1R2):c.222C>A (p.His74Gln)	VN1R2 (H74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188708	NM_173856.2(VN1R2):c.310A>C (p.Asn104His)	VN1R2 (N104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359491	NM_173856.2(VN1R2):c.362C>G (p.Pro121Arg)	VN1R2 (P121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357895	NM_173856.2(VN1R2):c.398T>C (p.Val133Ala)	VN1R2 (V133A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373013	NM_173856.2(VN1R2):c.416T>A (p.Ile139Asn)	VN1R2 (I139N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188709	NM_173856.2(VN1R2):c.469G>T (p.Asp157Tyr)	VN1R2 (D157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490631	NM_173856.2(VN1R2):c.488A>G (p.Lys163Arg)	VN1R2 (K163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267500	NM_173856.2(VN1R2):c.500A>G (p.Tyr167Cys)	VN1R2 (Y167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188710	NM_173856.2(VN1R2):c.682C>T (p.Pro228Ser)	VN1R2 (P228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332116	NM_173856.2(VN1R2):c.689A>G (p.Tyr230Cys)	VN1R2 (Y230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332120	NM_173856.2(VN1R2):c.762T>G (p.Ser254Arg)	VN1R2 (S254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527541	NM_173856.2(VN1R2):c.782T>C (p.Val261Ala)	VN1R2 (V261A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188711	NM_173856.2(VN1R2):c.807T>G (p.His269Gln)	VN1R2 (H269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617582	NM_173856.2(VN1R2):c.808G>A (p.Asp270Asn)	VN1R2 (D270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332118	NM_173856.2(VN1R2):c.832C>T (p.Leu278Phe)	VN1R2 (L278F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332119	NM_173856.2(VN1R2):c.1067T>C (p.Ile356Thr)	VN1R2 (I356T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332121	NM_173856.2(VN1R2):c.1084A>T (p.Ile362Phe)	VN1R2 (I362F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539153	NM_173856.2(VN1R2):c.1129C>T (p.Leu377Phe)	VN1R2 (L377F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218191	NM_173856.2(VN1R2):c.1170T>G (p.His390Gln)	VN1R2 (H390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303886	NM_173856.2(VN1R2):c.1171G>T (p.Asp391Tyr)	VN1R2 (D391Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188706	NM_173856.2(VN1R2):c.1177A>G (p.Arg393Gly)	VN1R2 (R393G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808442	GRCh37/hg19 19q13.42(chr19:53723679-53787396)x1	VN1R2, VN1R4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816090	GRCh37/hg19 19q13.42(chr19:53762536-53953261)x1	ZNF761, ZNF765 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 41