"GeneDx"[submitter] AND "OXTR"[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57696	GRCh38/hg38 3p26.1-25.3(chr3:7975734-9038133)x3	CAV3, LINC00312 +23 more	Copy number gain	See cases	GUncertain significance
Select item 57697	GRCh38/hg38 3p26.1-25.3(chr3:8091665-8742586)x3	CAV3, LINC00312 +13 more	Copy number gain	See cases	GUncertain significance
Select item 151834	GRCh38/hg38 3p25.3(chr3:8320124-9395968)x1	CAV3, LINC00312 +36 more	Copy number loss	See cases	GPathogenic
Select item 683325	NM_033337.3(CAV3):c.115-315G>C	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668825	NM_033337.3(CAV3):c.115-315G>T	CAV3, OXTR	Single nucleotide variant (intron 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 1286713	NM_033337.3(CAV3):c.115-151A>G	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31725	NM_033337.3(CAV3):c.115-89G>T	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 31736	NM_033337.3(CAV3):c.115-45_115-29del	CAV3, OXTR	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 262222	NM_033337.3(CAV3):c.115-45C>T	CAV3, OXTR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 46532	NM_033337.3(CAV3):c.115-13G>C	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 515050	NM_033337.3(CAV3):c.115-9C>T	CAV3, OXTR	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 497829	NM_033337.3(CAV3):c.129_140del (p.Asp43_Ala46del)	CAV3, OXTR	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 579228	NM_033337.3(CAV3):c.128A>T (p.Asp43Val)	CAV3, OXTR (D43V)	Single nucleotide variant (missense variant)	not provided +1 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 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 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 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 31710	NM_033337.3(CAV3):c.168C>A (p.Gly56=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +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 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 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 180797	NM_033337.3(CAV3):c.251T>C (p.Leu84Pro)	CAV3, OXTR (L84P)	Single nucleotide variant (missense variant)	not provided	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 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 180799	NM_033337.3(CAV3):c.287C>G (p.Ser96Cys)	CAV3, OXTR (S96C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265072	NM_033337.3(CAV3):c.303G>C (p.Trp101Cys)	CAV3, OXTR (W101C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 840845	NM_033337.3(CAV3):c.310G>A (p.Val104Met)	CAV3, OXTR (V104M)	Single nucleotide variant (missense variant)	not provided +6 more	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 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 279734	NM_033337.3(CAV3):c.346T>C (p.Cys116Arg)	CAV3, OXTR (C116R)	Single nucleotide variant (missense variant)	not provided	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 31713	NM_033337.3(CAV3):c.377G>A (p.Arg126His)	CAV3, OXTR (R126H)	Single nucleotide variant (missense variant)	Long QT syndrome +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 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 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 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 409258	NM_033337.3(CAV3):c.431A>G (p.Lys144Arg)	CAV3, OXTR (K144R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 180801	NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)	CAV3, OXTR (R148W)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 180802	NM_033337.3(CAV3):c.449A>T (p.Glu150Val)	CAV3, OXTR (E150V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 804668	NM_033337.3(CAV3):c.454del (p.Ter152LysextTer?)	CAV3, OXTR	Deletion (frameshift variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 385929	NM_033337.3(CAV3):c.*6G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
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 1246062	NM_033337.3(CAV3):c.*36G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 900585	NM_033337.3(CAV3):c.*38G>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	Caveolinopathy +1 more	GBenign
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 377627	NM_033337.3(CAV3):c.*85C>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 900586	NM_033337.3(CAV3):c.*86G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1291105	NM_033337.3(CAV3):c.*116C>G	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 390304	NM_033337.3(CAV3):c.*123A>G	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1291106	NM_033337.3(CAV3):c.*208C>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 346850	NM_033337.3(CAV3):c.*276C>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 1230886	NM_033337.3(CAV3):c.*291T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 902270	NM_033337.3(CAV3):c.*340G>A	OXTR, CAV3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 31718	NM_033337.3(CAV3):c.*543T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 31706	NM_033337.3(CAV3):c.*645A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 31720	NM_033337.3(CAV3):c.*783A>G	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 346860	NM_033337.3(CAV3):c.*805C>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 346861	NM_033337.3(CAV3):c.*813del	CAV3, OXTR	Deletion (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 31707	NM_033337.3(CAV3):c.*811C>G	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GBenign/Likely benign
Select item 1343061	NC_000003.12:g.8746798_8746799insAC	CAV3, OXTR	Insertion	not provided	GLikely benign
Select item 1327208	NC_000003.12:g.8746798_8746799insACAC	CAV3, OXTR	Insertion	not provided	GLikely benign
Select item 1272302	NC_000003.12:g.8746799AC[8]	CAV3, OXTR	Microsatellite	not provided	GBenign
Select item 1228058	NC_000003.12:g.8746799AC[6]	CAV3, OXTR	Microsatellite	not provided	GBenign
Select item 1321742	NC_000003.12:g.8746799_8746808del	CAV3, OXTR	Deletion	not provided	GLikely benign
Select item 1707794	NC_000003.12:g.8746800CA[23]	CAV3, OXTR	Microsatellite	not provided	GLikely benign
Select item 1326197	NC_000003.12:g.8746800_8746801insTCACACACACACACACACAC	CAV3, OXTR	Insertion	not provided	GLikely benign
Select item 1321719	NC_000003.12:g.8746800CA[18]	CAV3, OXTR	Microsatellite	not provided	GLikely benign
Select item 1247878	NC_000003.12:g.8746800_8746801insTCACACACACACACACAC	CAV3, OXTR	Insertion	not provided	GBenign
Select item 31727	NM_033337.2(CAV3):c.*932T>A	CAV3, OXTR	Single nucleotide variant	not provided	GBenign
Select item 1221937	NC_000003.12:g.8746805_8746819AC[8]AAACACACACACACACA[1]	CAV3, OXTR	Microsatellite	not provided	GBenign
Select item 1221201	NM_000916.4(OXTR):c.652G>A (p.Ala218Thr)	OXTR (A218T)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 96