Related gene-specific medical variations for Gene (Select 859) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	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 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 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 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)	Cardiovascular phenotype +1 more	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 2506073	NM_033337.3(CAV3):c.400G>C (p.Ala134Pro)	CAV3, OXTR (A134P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	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 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 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)	not provided +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 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 1953743	NM_033337.3(CAV3):c.368T>C (p.Leu123Pro)	OXTR, CAV3 (L123P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 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 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 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)	Cardiovascular phenotype +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 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 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)	Long QT syndrome +1 more	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 1525848	NM_033337.3(CAV3):c.220C>G (p.Arg74Gly)	CAV3, OXTR (R74G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1489175	NM_033337.3(CAV3):c.152C>T (p.Thr51Ile)	CAV3, OXTR (T51I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1462468	NM_033337.3(CAV3):c.115-2A>T	CAV3, OXTR	Single nucleotide variant (splice acceptor variant)	Long QT syndrome	GUncertain significance
Select item 1426802	NM_033337.3(CAV3):c.330C>A (p.Tyr110Ter)	CAV3, OXTR (Y110*)	Single nucleotide variant (nonsense)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1422593	NM_033337.3(CAV3):c.335T>C (p.Ile112Thr)	OXTR, CAV3 (I112T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1412080	NM_033337.3(CAV3):c.416T>C (p.Val139Ala)	CAV3, OXTR (V139A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1394284	NM_033337.3(CAV3):c.370T>C (p.Cys124Arg)	CAV3, OXTR (C124R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1384900	NM_033337.3(CAV3):c.184T>C (p.Tyr62His)	CAV3, OXTR (Y62H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1377372	NM_033337.3(CAV3):c.257T>A (p.Leu86Gln)	CAV3, OXTR (L86Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1349629	NM_033337.3(CAV3):c.310G>C (p.Val104Leu)	CAV3, OXTR (V104L)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 1331366	NM_033337.3(CAV3):c.213G>A (p.Trp71Ter)	CAV3, OXTR (W71*)	Single nucleotide variant (nonsense)	Long QT syndrome	GLikely pathogenic
Select item 1305821	NM_033337.3(CAV3):c.269T>C (p.Phe90Ser)	CAV3, OXTR (F90S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291107	NM_033337.3(CAV3):c.*80G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1291106	NM_033337.3(CAV3):c.*208C>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291105	NM_033337.3(CAV3):c.*116C>G	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1286713	NM_033337.3(CAV3):c.115-151A>G	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246062	NM_033337.3(CAV3):c.*36G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1237170	NM_033337.3(CAV3):c.*341C>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1230886	NM_033337.3(CAV3):c.*291T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1207018	NM_033337.3(CAV3):c.115-273T>C	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191338	NM_033337.3(CAV3):c.177G>A (p.Lys59=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1180807	NM_033337.3(CAV3):c.154_155dup (p.Ser53fs)	CAV3, OXTR (S53fs)	Duplication (frameshift variant)	Abnormality of the musculature	GLikely pathogenic
Select item 1153870	NM_033337.3(CAV3):c.147G>A (p.Val49=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1127563	NM_033337.3(CAV3):c.455A>G (p.Ter152=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1116847	NM_033337.3(CAV3):c.429C>A (p.Ile143=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1105432	NM_033337.3(CAV3):c.267C>T (p.Gly89=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1094510	NM_033337.3(CAV3):c.231C>T (p.Ser77=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1093022	NM_033337.3(CAV3):c.115-8C>T	CAV3, OXTR	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1083176	NM_033337.3(CAV3):c.243C>T (p.Gly81=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1077875	NM_033337.3(CAV3):c.273G>A (p.Leu91=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1062784	NM_033337.3(CAV3):c.199G>A (p.Val67Ile)	CAV3, OXTR (V67I)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1059414	NM_033337.3(CAV3):c.177G>C (p.Lys59Asn)	CAV3, OXTR (K59N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1057499	NM_033337.3(CAV3):c.345G>C (p.Gln115His)	CAV3, OXTR (Q115H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1044741	NM_033337.3(CAV3):c.272T>C (p.Leu91Pro)	CAV3, OXTR (L91P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1037574	NM_033337.3(CAV3):c.165C>A (p.Asp55Glu)	CAV3, OXTR (D55E)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1025525	NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)	CAV3, OXTR (P83S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 1010815	NM_033337.3(CAV3):c.194T>C (p.Phe65Ser)	CAV3, OXTR (F65S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1009203	NM_033337.3(CAV3):c.165C>G (p.Asp55Glu)	CAV3, OXTR (D55E)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 995331	NM_033337.3(CAV3):c.84C>G (p.Asp28Glu)	CAV3 (D28E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 995330	NM_033337.3(CAV3):c.241G>A (p.Gly81Ser)	CAV3, OXTR (G81S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977709	NM_033337.3(CAV3):c.227T>C (p.Leu76Ser)	CAV3, OXTR (L76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973213	NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)	CAV3, OXTR (I100N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +4 more	GLikely pathogenic

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