ClinVar for Gene (Select 7433) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332077	NM_004624.4(VIPR1):c.55C>G (p.Leu19Val)	LOC129936562, VIPR1 (L19V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3332076	NM_004624.4(VIPR1):c.635C>T (p.Ser212Leu)	VIPR1 (S171L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332074	NM_004624.4(VIPR1):c.418G>C (p.Gly140Arg)	VIPR1 (G140R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332073	NM_004624.4(VIPR1):c.826G>T (p.Ala276Ser)	VIPR1, VIPR1-AS1 (A228S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332072	NM_004624.4(VIPR1):c.1072G>A (p.Ala358Thr)	VIPR1 (A148T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332071	NM_004624.4(VIPR1):c.754C>T (p.Arg252Trp)	VIPR1, VIPR1-AS1 (R211W +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3332070	NM_004624.4(VIPR1):c.350C>T (p.Pro117Leu)	VIPR1 (P117L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188590	NM_004624.4(VIPR1):c.893A>G (p.Lys298Arg)	VIPR1, VIPR1-AS1 (K250R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188589	NM_004624.4(VIPR1):c.850G>A (p.Gly284Arg)	VIPR1, VIPR1-AS1 (G243R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188588	NM_004624.4(VIPR1):c.821C>G (p.Thr274Ser)	VIPR1, VIPR1-AS1 (T233S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188587	NM_004624.4(VIPR1):c.820A>T (p.Thr274Ser)	VIPR1, VIPR1-AS1 (T226S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188586	NM_004624.4(VIPR1):c.644G>A (p.Cys215Tyr)	VIPR1 (C174Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188585	NM_004624.4(VIPR1):c.53C>T (p.Ala18Val)	LOC129936562, VIPR1 (A18V)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3188584	NM_004624.4(VIPR1):c.433G>A (p.Gly145Ser)	VIPR1 (G104S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188583	NM_004624.4(VIPR1):c.260C>G (p.Pro87Arg)	VIPR1 (P87R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188582	NM_004624.4(VIPR1):c.233G>A (p.Arg78Gln)	VIPR1 (R51Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188581	NM_004624.4(VIPR1):c.1190C>A (p.Ala397Glu)	VIPR1 (A349E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188579	NM_004624.4(VIPR1):c.1109T>C (p.Met370Thr)	VIPR1 (M160T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611799	NM_004624.4(VIPR1):c.1067T>C (p.Met356Thr)	VIPR1 (M308T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599132	NM_004624.4(VIPR1):c.5G>A (p.Arg2His)	LOC129936562, VIPR1 (R2H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2590430	NM_004624.4(VIPR1):c.1082C>T (p.Pro361Leu)	VIPR1 (P151L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569856	NM_004624.4(VIPR1):c.571G>A (p.Ala191Thr)	VIPR1 (A150T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541298	NM_004624.4(VIPR1):c.89C>T (p.Ala30Val)	VIPR1 (A30V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2474299	NM_004624.4(VIPR1):c.844G>A (p.Asp282Asn)	VIPR1, VIPR1-AS1 (D72N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312648	NM_004624.4(VIPR1):c.224C>A (p.Ala75Asp)	VIPR1 (A28D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307400	NM_004624.4(VIPR1):c.1316G>A (p.Arg439His)	VIPR1 (R229H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306056	NM_004624.4(VIPR1):c.1030C>A (p.Leu344Ile)	VIPR1 (L317I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255057	NM_004624.4(VIPR1):c.406A>T (p.Thr136Ser)	VIPR1 (T109S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251607	NM_004624.4(VIPR1):c.784G>T (p.Gly262Cys)	VIPR1, VIPR1-AS1 (G221C +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2213009	NM_004624.4(VIPR1):c.161C>A (p.Ala54Asp)	VIPR1 (A13D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207034	NM_004624.4(VIPR1):c.130G>A (p.Glu44Lys)	VIPR1 (E44K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527013	GRCh37/hg19 3p22.1(chr3:42566141-42673896)	NKTR, SEC22C +2 more	Copy number loss	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 980512	GRCh37/hg19 3p22.1(chr3:42008472-42610176)x3	LYZL4, SEC22C +3 more	Copy number gain	not provided	GUncertain significance
Select item 787972	NM_004624.4(VIPR1):c.1334G>T (p.Arg445Leu)	VIPR1 (R397L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787782	NM_004624.4(VIPR1):c.387G>A (p.Ala129=)	VIPR1 (R5Q)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 785794	NM_004624.4(VIPR1):c.295C>A (p.Arg99Ser)	VIPR1 (R52S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 767897	NM_004624.4(VIPR1):c.614C>T (p.Ser205Leu)	VIPR1 (S164L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 767896	NM_004624.4(VIPR1):c.333G>A (p.Thr111=)	VIPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 765342	NM_004624.4(VIPR1):c.266T>C (p.Ile89Thr)	VIPR1 (I42T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 740744	NM_004624.4(VIPR1):c.400-9C>T	VIPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739168	NM_004624.4(VIPR1):c.1182+9C>T	VIPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736028	NM_004624.4(VIPR1):c.1365C>T (p.Ser455=)	VIPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733479	NM_004624.4(VIPR1):c.477C>T (p.Val159=)	VIPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 731807	NM_004624.4(VIPR1):c.377A>G (p.Asp126Gly)	VIPR1 (D85G +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722358	NM_004624.4(VIPR1):c.1083G>A (p.Pro361=)	VIPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720915	NM_004624.4(VIPR1):c.1194G>A (p.Glu398=)	VIPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710729	NM_004624.4(VIPR1):c.450C>T (p.Tyr150=)	VIPR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +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
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 57726	GRCh38/hg38 3p22.1(chr3:41880503-42550279)x3	CCK, LOC121009659 +36 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 54