"Revvity Omics, Revvity"[submitter] AND "OXTR"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1489175	NM_033337.3(CAV3):c.152C>T (p.Thr51Ile)	CAV3, OXTR (T51I)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
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 409254	NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)	CAV3, OXTR (S61N)	Single nucleotide variant (missense variant)	Long QT syndrome +6 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 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 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 31734	NM_033337.3(CAV3):c.301T>C (p.Trp101Arg)	CAV3, OXTR (W101R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 942355	NM_033337.3(CAV3):c.380C>T (p.Thr127Ile)	CAV3, OXTR (T127I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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