"Illumina Laboratory Services, Illumina"[submitter] AND "OXTR"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31717	NM_033337.3(CAV3):c.123T>C (p.Phe41=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Caveolinopathy +5 more	GBenign/Likely benign
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 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	Elevated circulating creatine kinase concentration +13 more	GBenign/Likely benign
Select item 31714	NM_033337.3(CAV3):c.171G>A (p.Val57=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 8288	NM_033337.3(CAV3):c.191C>G (p.Thr64Ser)	CAV3, OXTR (T64S)	Single nucleotide variant (missense variant)	Caveolinopathy	GUncertain significance
Select item 136659	NM_033337.3(CAV3):c.201C>A (p.Val67=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Caveolinopathy +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)	Caveolinopathy +6 more	GBenign/Likely benign
Select item 8279	NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)	CAV3, OXTR (C72W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 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)	CAV3-related condition +8 more	GConflicting classifications of pathogenicity
Select item 346849	NM_033337.3(CAV3):c.259C>T (p.Leu87Phe)	CAV3, OXTR (L87F)	Single nucleotide variant (missense variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 46534	NM_033337.3(CAV3):c.276C>T (p.Phe92=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 46536	NM_033337.3(CAV3):c.336C>T (p.Ile112=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign/Likely benign
Select item 35804	NM_033337.3(CAV3):c.417C>T (p.Val139=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
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 +6 more	GConflicting classifications of pathogenicity
Select item 900583	NM_033337.3(CAV3):c.*13C>A	OXTR, CAV3	Single nucleotide variant (3 prime UTR variant +1 more)	Caveolinopathy	GUncertain significance
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 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 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 900587	NM_033337.3(CAV3):c.*134G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 900588	NM_033337.3(CAV3):c.*193T>C	OXTR, CAV3	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy	GUncertain significance
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 346851	NM_033337.3(CAV3):c.*277G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 902269	NM_033337.3(CAV3):c.*312G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy	GUncertain significance
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 346852	NM_033337.3(CAV3):c.*433C>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 902271	NM_033337.3(CAV3):c.*435T>A	OXTR, CAV3	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy	GUncertain significance
Select item 902272	NM_033337.3(CAV3):c.*440G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy	GUncertain significance
Select item 902273	NM_033337.3(CAV3):c.*441T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 346853	NM_033337.3(CAV3):c.*467T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 31718	NM_033337.3(CAV3):c.*543T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 903138	NM_033337.3(CAV3):c.*569G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy	GBenign
Select item 346854	NM_033337.3(CAV3):c.*592G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 903139	NM_033337.3(CAV3):c.*598G>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy	GBenign
Select item 31706	NM_033337.3(CAV3):c.*645A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +3 more	GBenign/Likely benign
Select item 903140	NM_033337.3(CAV3):c.*658T>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 1 +5 more	GUncertain significance
Select item 346855	NM_033337.3(CAV3):c.*722G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 346856	NM_033337.3(CAV3):c.*725T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +4 more	GUncertain significance
Select item 346857	NM_033337.3(CAV3):c.*741G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Caveolinopathy +7 more	GUncertain significance
Select item 346858	NM_033337.3(CAV3):c.*763G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GConflicting classifications of pathogenicity
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 346859	NM_033337.3(CAV3):c.*788C>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GConflicting classifications of pathogenicity
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 346862	NM_033337.3(CAV3):c.*834A>T	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346863	NM_033337.3(CAV3):c.*852G>A	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +7 more	GUncertain significance
Select item 346864	NM_033337.3(CAV3):c.*853T>C	CAV3, OXTR	Single nucleotide variant (3 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +2 more	GUncertain significance
Select item 2671618	Single allele	ARL8B, ARPC4 +36 more	Deletion	not provided	GPathogenic
Select item 1803810	GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	JAGN1, LHFPL4 +50 more	Copy number gain	not provided	GPathogenic

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Items: 51