ClinVar for Gene (Select 859) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365944	NM_033337.3(CAV3):c.115G>A (p.Val39Met)	CAV3, OXTR (V39M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3263580	NM_033337.3(CAV3):c.415G>A (p.Val139Ile)	CAV3, OXTR (V139I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3246842	NC_000003.11:g.(?_8772238)_(8775689_?)del	CAV3	Deletion	Long QT syndrome	GPathogenic
Select item 3246841	NC_000003.11:g.(?_8775563)_(8787553_?)del	CAV3	Deletion	Long QT syndrome	GPathogenic
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3228207	NM_033337.3(CAV3):c.439C>G (p.Leu147Val)	CAV3, OXTR (L147V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3065550	NM_033337.3(CAV3):c.128A>G (p.Asp43Gly)	CAV3, OXTR (D43G)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GLikely pathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 3062673	GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	ARPC4, ARPC4-TTLL3 +40 more	Copy number loss	not specified	GPathogenic
Select item 3062668	GRCh37/hg19 3p26.1-25.3(chr3:8405045-9014878)x1	CAV3, LINC00312 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3009980	NM_033337.3(CAV3):c.342C>T (p.Ile114=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3003036	NM_033337.3(CAV3):c.399C>G (p.Phe133Leu)	CAV3, OXTR (F133L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2964228	NM_033337.3(CAV3):c.315del (p.Cys106fs)	CAV3, OXTR (C106fs)	Deletion (frameshift variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2905808	NM_033337.3(CAV3):c.396C>G (p.Leu132=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2897472	NM_033337.3(CAV3):c.246C>G (p.Val82=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2882848	NM_033337.3(CAV3):c.157A>C (p.Ser53Arg)	CAV3, OXTR (S53R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2860549	NM_033337.3(CAV3):c.263G>A (p.Trp88Ter)	CAV3, OXTR (W88*)	Single nucleotide variant (nonsense)	Long QT syndrome	GPathogenic
Select item 2857073	NM_033337.3(CAV3):c.427A>T (p.Ile143Phe)	CAV3, OXTR (I143F)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2855009	NM_033337.3(CAV3):c.191C>A (p.Thr64Asn)	CAV3, OXTR (T64N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2847783	NM_033337.3(CAV3):c.396C>T (p.Leu132=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2847173	NM_033337.3(CAV3):c.103G>C (p.Asp35His)	CAV3 (D35H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2832893	NM_033337.3(CAV3):c.408G>A (p.Leu136=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2821967	NM_033337.3(CAV3):c.215G>A (p.Cys72Tyr)	CAV3, OXTR (C72Y)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2761226	NM_033337.3(CAV3):c.19A>G (p.Thr7Ala)	CAV3 (T7A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2752803	NM_033337.3(CAV3):c.196_197insTT (p.Thr66fs)	CAV3, OXTR (T66fs)	Insertion (frameshift variant)	Long QT syndrome	GPathogenic
Select item 2739653	NM_033337.3(CAV3):c.115-4G>C	CAV3, OXTR	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2730882	NM_033337.3(CAV3):c.123_124inv (p.Glu42Lys)	CAV3, OXTR (E42K)	Inversion (missense variant)	Long QT syndrome	GUncertain significance
Select item 2709624	NM_033337.3(CAV3):c.114+16C>T	CAV3	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 2653467	NM_033337.3(CAV3):c.115-3013G>A	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2606537	NM_033337.3(CAV3):c.436G>A (p.Val146Met)	CAV3, OXTR (V146M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2587092	NM_033337.3(CAV3):c.401C>A (p.Ala134Glu)	CAV3, OXTR (A134E)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2580893	GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1	ARPC4, ARPC4-TTLL3 +29 more	Copy number loss	3p- syndrome	GPathogenic
Select item 2577175	NM_033337.3(CAV3):c.109G>A (p.Val37Ile)	CAV3 (V37I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567112	NM_033337.3(CAV3):c.207G>A (p.Lys69=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2567111	NM_033337.3(CAV3):c.361T>A (p.Tyr121Asn)	CAV3, OXTR (Y121N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2506074	NM_033337.3(CAV3):c.72G>A (p.Leu24=)	CAV3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2506073	NM_033337.3(CAV3):c.400G>C (p.Ala134Pro)	CAV3, OXTR (A134P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2501275	NC_000003.11:g.(?_8775485)_(8788452_?)del	CAV3	Deletion	Rippling muscle disease 2	GPathogenic
Select item 2452814	NM_033337.3(CAV3):c.95T>C (p.Ile32Thr)	CAV3 (I32T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452813	NM_033337.3(CAV3):c.37A>G (p.Ile13Val)	CAV3 (I13V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2452812	NM_033337.3(CAV3):c.164A>G (p.Asp55Gly)	CAV3, OXTR (D55G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2423657	NC_000003.11:g.(?_6903076)_(9517775_?)del	CAV3, GRM7 +8 more	Deletion	not provided	GPathogenic
Select item 2418634	NM_033337.3(CAV3):c.163G>A (p.Asp55Asn)	CAV3, OXTR (D55N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2229766	NM_033337.3(CAV3):c.17A>G (p.His6Arg)	CAV3 (H6R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2198421	NM_033337.3(CAV3):c.250C>G (p.Leu84Val)	CAV3, OXTR (L84V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2169650	NM_033337.3(CAV3):c.320T>C (p.Ile107Thr)	CAV3, OXTR (I107T)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2165576	NM_033337.3(CAV3):c.226T>C (p.Leu76=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2145969	NM_033337.3(CAV3):c.402G>T (p.Ala134=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2142044	NM_033337.3(CAV3):c.50T>C (p.Ile17Thr)	CAV3 (I17T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2120832	NM_033337.3(CAV3):c.419G>A (p.Cys140Tyr)	CAV3, OXTR (C140Y)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2022389	NM_033337.3(CAV3):c.135C>A (p.Ile45=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2011121	NM_033337.3(CAV3):c.140A>G (p.Glu47Gly)	CAV3, OXTR (E47G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2009971	NM_033337.3(CAV3):c.146T>C (p.Val49Ala)	CAV3, OXTR (V49A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1982948	NM_033337.3(CAV3):c.160T>G (p.Phe54Val)	CAV3, OXTR (F54V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1968134	NM_033337.3(CAV3):c.114+3A>G	CAV3	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 1953743	NM_033337.3(CAV3):c.368T>C (p.Leu123Pro)	CAV3, OXTR (L123P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1808299	GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	ARL8B, ARPC4 +55 more	Copy number loss	not provided	GPathogenic
Select item 1808087	GRCh37/hg19 3p26.1-25.3(chr3:8394537-9014878)x1	CAV3, LINC00312 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807781	GRCh37/hg19 3p26.3-25.3(chr3:61892-9769457)x1	ARL8B, BHLHE40 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807765	GRCh37/hg19 3p26.3-25.3(chr3:61892-9899605)x1	ARL8B, ARPC4 +33 more	Copy number loss	not provided	GPathogenic
Select item 1807132	NM_033337.3(CAV3):c.91A>T (p.Asn31Tyr)	CAV3 (N31Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic
Select item 1797267	NM_033337.3(CAV3):c.288C>G (p.Ser96=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1796820	NM_033337.3(CAV3):c.284T>A (p.Ile95Asn)	CAV3, OXTR (I95N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1791751	NM_033337.3(CAV3):c.246C>T (p.Val82=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1791617	NM_033337.3(CAV3):c.245T>C (p.Val82Ala)	CAV3, OXTR (V82A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1782274	NM_033337.3(CAV3):c.18C>T (p.His6=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1776809	NM_033337.3(CAV3):c.162T>G (p.Phe54Leu)	CAV3, OXTR (F54L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774797	NM_033337.3(CAV3):c.153C>G (p.Thr51=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1751622	NM_033337.3(CAV3):c.60G>T (p.Lys20Asn)	CAV3 (K20N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743981	NM_033337.3(CAV3):c.48T>C (p.Asp16=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734362	NM_033337.3(CAV3):c.372C>G (p.Cys124Trp)	CAV3, OXTR (C124W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732878	NM_033337.3(CAV3):c.357C>T (p.His119=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1732572	NM_033337.3(CAV3):c.354C>T (p.Ser118=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1729068	NM_033337.3(CAV3):c.321T>C (p.Ile107=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1728424	NM_033337.3(CAV3):c.316T>C (p.Cys106Arg)	OXTR, CAV3 (C106R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1728264	NM_033337.3(CAV3):c.315A>C (p.Pro105=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1720358	NM_033337.3(CAV3):c.418T>G (p.Cys140Gly)	CAV3, OXTR (C140G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1715073	NM_033337.3(CAV3):c.58A>C (p.Lys20Gln)	CAV3 (K20Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1707794	NC_000003.12:g.8746800CA[23]	CAV3, OXTR	Microsatellite	not provided	GLikely benign
Select item 1706499	GRCh37/hg19 3p26.1-25.3(chr3:7694117-9546173)x1	SRGAP3, SSUH2 +9 more	Copy number loss	See cases	GPathogenic
Select item 1695059	NM_033337.3(CAV3):c.270C>T (p.Phe90=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1622820	NM_033337.3(CAV3):c.279C>T (p.Ala93=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1617877	NM_033337.3(CAV3):c.423C>T (p.Ser141=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1615342	NM_033337.3(CAV3):c.231C>G (p.Ser77=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1610867	NM_033337.3(CAV3):c.115-17C>T	CAV3, OXTR	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1606545	NM_033337.3(CAV3):c.132G>A (p.Val44=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1594518	NM_033337.3(CAV3):c.406C>T (p.Leu136=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1574393	NM_033337.3(CAV3):c.114+11C>T	CAV3	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 1566985	NM_033337.3(CAV3):c.183C>T (p.Ser61=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1554845	NM_033337.3(CAV3):c.435G>T (p.Val145=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1540815	NM_033337.3(CAV3):c.63G>A (p.Glu21=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1529524	NM_033337.3(CAV3):c.339G>A (p.Glu113=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1526995	GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	ARPC4, ARPC4-TTLL3 +28 more	Copy number loss	not specified	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1526966	GRCh37/hg19 3p26.3-25.3(chr3:61891-9797094)	ARL8B, BHLHE40 +27 more	Copy number loss	not specified	GPathogenic
Select item 1525848	NM_033337.3(CAV3):c.220C>G (p.Arg74Gly)	CAV3, OXTR (R74G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance

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