"Ambry Genetics"[submitter] AND "OXTR"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 415525	NM_033337.3(CAV3):c.117G>C (p.Val39=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 31717	NM_033337.3(CAV3):c.123T>C (p.Phe41=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Caveolinopathy +6 more	GBenign/Likely benign
Select item 409255	NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)	CAV3, OXTR (E42A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 506389	NM_033337.3(CAV3):c.129C>T (p.Asp43=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	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 701335	NM_033337.3(CAV3):c.135C>T (p.Ile45=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 8281	NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)	CAV3, OXTR (A46T)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 409259	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)	CAV3, OXTR (P48R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 46533	NM_033337.3(CAV3):c.144T>C (p.Pro48=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1153870	NM_033337.3(CAV3):c.147G>A (p.Val49=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
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 1776809	NM_033337.3(CAV3):c.162T>G (p.Phe54Leu)	CAV3, OXTR (F54L)	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 639987	NM_033337.3(CAV3):c.165del (p.Asp55fs)	CAV3, OXTR (D55fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Limb-girdle muscular dystrophy +13 more	GBenign/Likely benign
Select item 162828	NM_033337.3(CAV3):c.168C>T (p.Gly56=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 31708	NM_033337.3(CAV3):c.169G>A (p.Val57Met)	CAV3, OXTR (V57M)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 31714	NM_033337.3(CAV3):c.171G>A (p.Val57=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 1191338	NM_033337.3(CAV3):c.177G>A (p.Lys59=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 136659	NM_033337.3(CAV3):c.201C>A (p.Val67=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 31711	NM_033337.3(CAV3):c.204C>A (p.Ser68=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
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 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 8293	NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	CAV3, OXTR (T78M)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 241747	NM_033337.3(CAV3):c.234G>A (p.Thr78=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1083176	NM_033337.3(CAV3):c.243C>T (p.Gly81=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 279733	NM_033337.3(CAV3):c.244G>A (p.Val82Ile)	CAV3, OXTR (V82I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
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 1791751	NM_033337.3(CAV3):c.246C>T (p.Val82=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 8284	NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)	OXTR, CAV3 (L87P)	Single nucleotide variant (missense variant)	SUDDEN INFANT DEATH SYNDROME +2 more	GUncertain significance
Select item 1077875	NM_033337.3(CAV3):c.273G>A (p.Leu91=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 46534	NM_033337.3(CAV3):c.276C>T (p.Phe92=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 180798	NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)	CAV3, OXTR (A93S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 8285	NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)	CAV3, OXTR (A93T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1797267	NM_033337.3(CAV3):c.288C>G (p.Ser96=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518597	NM_033337.3(CAV3):c.297C>T (p.His99=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 452121	NM_033337.3(CAV3):c.305C>T (p.Ala102Val)	CAV3, OXTR (A102V)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 46535	NM_033337.3(CAV3):c.306G>A (p.Ala102=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 1728264	NM_033337.3(CAV3):c.315A>C (p.Pro105=)	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 758962	NM_033337.3(CAV3):c.318C>T (p.Cys106=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	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 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 1 +10 more	GBenign/Likely benign
Select item 519482	NM_033337.3(CAV3):c.337G>A (p.Glu113Lys)	CAV3, OXTR (E113K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 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 2567111	NM_033337.3(CAV3):c.361T>A (p.Tyr121Asn)	CAV3, OXTR (Y121N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 1734362	NM_033337.3(CAV3):c.372C>G (p.Cys124Trp)	CAV3, OXTR (C124W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 279735	NM_033337.3(CAV3):c.376C>T (p.Arg126Cys)	CAV3, OXTR (R126C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 457132	NM_033337.3(CAV3):c.384C>T (p.Phe128=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 281822	NM_033337.3(CAV3):c.399C>T (p.Phe133=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 288112	NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)	CAV3, OXTR (A134T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
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 279736	NM_033337.3(CAV3):c.401C>T (p.Ala134Val)	CAV3, OXTR (A134V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GUncertain significance
Select item 519474	NM_033337.3(CAV3):c.402G>C (p.Ala134=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 180794	NM_033337.3(CAV3):c.402G>A (p.Ala134=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
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 1412080	NM_033337.3(CAV3):c.416T>C (p.Val139Ala)	CAV3, OXTR (V139A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 35804	NM_033337.3(CAV3):c.417C>T (p.Val139=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
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 180800	NM_033337.3(CAV3):c.433G>A (p.Val145Met)	OXTR, CAV3 (V145M)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
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 2606537	NM_033337.3(CAV3):c.436G>A (p.Val146Met)	CAV3, OXTR (V146M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 760864	NM_033337.3(CAV3):c.438G>A (p.Val146=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
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 96240	NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)	CAV3, OXTR (R148Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 46537	NM_033337.3(CAV3):c.444G>A (p.Arg148=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome +3 more	GBenign/Likely benign
Select item 409257	NM_033337.3(CAV3):c.451G>A (p.Val151Ile)	CAV3, OXTR (V151I)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 900584	NM_033337.3(CAV3):c.*20G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3303782	NM_000916.4(OXTR):c.1163C>T (p.Thr388Met)	OXTR (T388M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303783	NM_000916.4(OXTR):c.1132T>C (p.Ser378Pro)	OXTR (S378P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207604	NM_000916.4(OXTR):c.1066C>T (p.Arg356Cys)	OXTR (R356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601018	NM_000916.4(OXTR):c.1051T>C (p.Tyr351His)	OXTR (Y351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408174	NM_000916.4(OXTR):c.1021G>A (p.Val341Met)	OXTR (V341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303784	NM_000916.4(OXTR):c.967T>G (p.Cys323Gly)	OXTR (C323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618287	NM_000916.4(OXTR):c.904G>A (p.Ala302Thr)	OXTR (A302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275484	NM_000916.4(OXTR):c.881T>A (p.Val294Glu)	OXTR (V294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399613	NM_000916.4(OXTR):c.791A>G (p.Lys264Arg)	OXTR (K264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207608	NM_000916.4(OXTR):c.751G>A (p.Asp251Asn)	OXTR (D251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591159	NM_000916.4(OXTR):c.643G>C (p.Val215Leu)	OXTR (V215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474020	NM_000916.4(OXTR):c.541G>T (p.Ala181Ser)	OXTR (A181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371796	NM_000916.4(OXTR):c.538G>C (p.Val180Leu)	OXTR (V180L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546161	NM_000916.4(OXTR):c.399G>A (p.Met133Ile)	OXTR (M133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207606	NM_000916.4(OXTR):c.298G>A (p.Asp100Asn)	OXTR (D100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303785	NM_000916.4(OXTR):c.202C>G (p.Arg68Gly)	OXTR (R68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207605	NM_000916.4(OXTR):c.202C>T (p.Arg68Cys)	OXTR (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545720	NM_000916.4(OXTR):c.172G>T (p.Ala58Ser)	OXTR (A58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365810	NM_000916.4(OXTR):c.80G>C (p.Arg27Pro)	LOC129936112, OXTR (R27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385519	NM_000916.4(OXTR):c.56C>T (p.Ala19Val)	OXTR (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 93