ClinVar for Gene (Select 317703) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332125	NM_173857.3(VN1R4):c.37T>C (p.Ser13Pro)	VN1R4 (S13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332124	NM_173857.3(VN1R4):c.494G>T (p.Gly165Val)	VN1R4 (G165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332123	NM_173857.3(VN1R4):c.65G>C (p.Ser22Thr)	VN1R4 (S22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332122	NM_173857.3(VN1R4):c.635G>A (p.Arg212Gln)	VN1R4 (R212Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188713	NM_173857.3(VN1R4):c.770C>T (p.Ala257Val)	VN1R4 (A257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188712	NM_173857.3(VN1R4):c.182G>A (p.Gly61Glu)	VN1R4 (G61E)	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 2588719	NM_173857.3(VN1R4):c.11G>A (p.Arg4Gln)	VN1R4 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540935	NM_173857.3(VN1R4):c.416T>C (p.Met139Thr)	VN1R4 (M139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523096	NM_173857.3(VN1R4):c.766A>G (p.Met256Val)	VN1R4 (M256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409606	NM_173857.3(VN1R4):c.46G>A (p.Val16Met)	VN1R4 (V16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401313	NM_173857.3(VN1R4):c.833C>T (p.Pro278Leu)	VN1R4 (P278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371294	NM_173857.3(VN1R4):c.605T>C (p.Met202Thr)	VN1R4 (M202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367074	NM_173857.3(VN1R4):c.377A>G (p.His126Arg)	VN1R4 (H126R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361966	NM_173857.3(VN1R4):c.425A>G (p.Asn142Ser)	VN1R4 (N142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352944	NM_173857.3(VN1R4):c.202G>A (p.Ala68Thr)	VN1R4 (A68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350137	NM_173857.3(VN1R4):c.191A>T (p.Gln64Leu)	VN1R4 (Q64L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2340524	NM_173857.3(VN1R4):c.254A>G (p.Tyr85Cys)	VN1R4 (Y85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252214	NM_173857.3(VN1R4):c.856A>C (p.Met286Leu)	VN1R4 (M286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220723	NM_173857.3(VN1R4):c.604A>G (p.Met202Val)	VN1R4 (M202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 769464	NM_173857.3(VN1R4):c.658A>G (p.Asn220Asp)	VN1R4 (N220D)	Single nucleotide variant (missense variant)	not provided	GBenign
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
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 151480	GRCh38/hg38 19q13.42(chr19:53159246-53289022)x3	LOC112553113, LOC130065072 +5 more	Copy number gain	See cases	GLikely benign
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 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 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 38