"Leiden Muscular Dystrophy (CAV3)"[submitter] AND "OXTR"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31751	NM_033337.2(CAV3):c.(?_-67)_(*898_?)del	CAV3, OXTR	Deletion	not provided	Gnot provided
Select item 31750	NM_033337.3(CAV3):c.(114+1_115-1)_(*1_?)del	CAV3, OXTR	Deletion	not provided	Gnot provided
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 31737	NM_033337.3(CAV3):c.115-23G>C	CAV3, OXTR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 31732	NM_033337.3(CAV3):c.131T>A (p.Val44Glu)	CAV3, OXTR (V44E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31749	NM_033337.3(CAV3):c.136G>T (p.Ala46Ser)	CAV3, OXTR (A46S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 31738	NM_033337.3(CAV3):c.137C>A (p.Ala46Glu)	CAV3, OXTR (A46E)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 8282	NM_033337.3(CAV3):c.137C>T (p.Ala46Val)	CAV3, OXTR (A46V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8290	NM_033337.3(CAV3):c.139G>A (p.Glu47Lys)	CAV3, OXTR (E47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31744	NM_033337.3(CAV3):c.140A>C (p.Glu47Ala)	OXTR, CAV3 (E47A)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31745	NM_033337.3(CAV3):c.141G>T (p.Glu47Asp)	OXTR, CAV3 (E47D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31733	NM_033337.3(CAV3):c.157A>G (p.Ser53Gly)	CAV3, OXTR (S53G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31743	NM_033337.3(CAV3):c.158G>A (p.Ser53Asn)	CAV3, OXTR (S53N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 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 31721	NM_033337.3(CAV3):c.170T>G (p.Val57Gly)	CAV3, OXTR (V57G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 31735	NM_033337.3(CAV3):c.172T>C (p.Trp58Arg)	CAV3, OXTR (W58R)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31729	NM_033337.3(CAV3):c.183C>A (p.Ser61Arg)	CAV3, OXTR (S61R)	Single nucleotide variant (missense variant)	CAV3-related disorder	GLikely pathogenic
Select item 8277	NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)	CAV3, OXTR	Deletion (inframe_deletion)	Rippling muscle disease 2	GPathogenic
Select item 31715	NM_033337.3(CAV3):c.190A>C (p.Thr64Pro)	CAV3, OXTR (T64P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 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 31741	NM_033337.3(CAV3):c.212G>A (p.Trp71Ter)	CAV3, OXTR (W71*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
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 31748	NM_033337.3(CAV3):c.218A>G (p.Tyr73Cys)	CAV3, OXTR (Y73C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 132978	NM_033337.3(CAV3):c.233C>A (p.Thr78Lys)	CAV3, OXTR (T78K)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 8296	NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)	OXTR, CAV3 (L79R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 8294	NM_033337.3(CAV3):c.253G>A (p.Ala85Thr)	OXTR, CAV3 (A85T)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GPathogenic
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 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 8286	NM_033337.3(CAV3):c.290_292del (p.Phe97del)	CAV3, OXTR (F97del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 8292	NM_033337.3(CAV3):c.290T>G (p.Phe97Cys)	CAV3, OXTR (F97C)	Single nucleotide variant (missense variant)	Long QT syndrome 9, acquired, susceptibility to	Grisk factor
Select item 31731	NM_033337.3(CAV3):c.298A>T (p.Ile100Phe)	CAV3, OXTR (I100F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 31742	NM_033337.3(CAV3):c.307_312del (p.Val103_Val104del)	CAV3, OXTR	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 8276	NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)	CAV3, OXTR (P105L)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GPathogenic
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 8291	NM_033337.3(CAV3):c.423C>G (p.Ser141Arg)	OXTR, CAV3 (S141R)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GPathogenic
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 31719	NM_033337.3(CAV3):c.*740C>G	OXTR, CAV3	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
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 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 31727	NM_033337.2(CAV3):c.*932T>A	CAV3, OXTR	Single nucleotide variant	not provided	GBenign
Select item 31728	NM_033337.2(CAV3):c.*937C>A	CAV3, OXTR	Single nucleotide variant	not provided	Gnot provided

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: 51