"GeneDx"[submitter] AND "CAV3"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 136

<< First< Prev

Page of 2

	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 683301	NM_033337.2(CAV3):c.-410C>T	CAV3	Single nucleotide variant	not provided	GBenign
Select item 669816	NM_033337.2(CAV3):c.-348G>A	CAV3	Single nucleotide variant	not provided	GLikely benign
Select item 669623	NM_033337.2(CAV3):c.-343G>A	CAV3	Single nucleotide variant	not provided	GLikely benign
Select item 668647	NM_033337.2(CAV3):c.-340C>A	CAV3	Single nucleotide variant	not provided	GBenign
Select item 680163	NM_033337.2(CAV3):c.-268C>T	CAV3	Single nucleotide variant	not provided	GLikely benign
Select item 671893	NM_033337.2(CAV3):c.-184G>T	CAV3	Single nucleotide variant	not provided	GBenign
Select item 1247121	NC_000003.12:g.8733739G>A	CAV3	Single nucleotide variant	not provided	GBenign
Select item 31726	NM_033337.2(CAV3):c.-122C>T	CAV3	Single nucleotide variant	not provided	GBenign
Select item 31746	NM_033337.2(CAV3):c.-106G>A	CAV3	Single nucleotide variant	not provided	GBenign
Select item 386097	NM_033337.3(CAV3):c.-48C>T	CAV3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 377626	NM_033337.3(CAV3):c.-47C>T	CAV3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1292446	NM_033337.3(CAV3):c.-46G>A	CAV3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 31739	NM_033337.3(CAV3):c.-37G>A	CAV3	Single nucleotide variant (5 prime UTR variant)	Caveolinopathy +3 more	GConflicting classifications of pathogenicity
Select item 388403	NM_033337.3(CAV3):c.-33G>A	CAV3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 180795	NM_033337.3(CAV3):c.-33G>T	CAV3	Single nucleotide variant (5 prime UTR variant)	Limb-Girdle Muscular Dystrophy, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 1292447	NM_033337.3(CAV3):c.-31A>G	CAV3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 506663	NM_033337.3(CAV3):c.-29C>T	CAV3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 136660	NM_033337.3(CAV3):c.-15C>A	CAV3	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 193476	NM_033337.3(CAV3):c.-2C>T	CAV3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 46531	NM_033337.3(CAV3):c.-1G>A	CAV3	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 31716	NM_033337.3(CAV3):c.27C>T (p.Leu9=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome +8 more	GBenign/Likely benign
Select item 180803	NM_033337.3(CAV3):c.28G>A (p.Glu10Lys)	CAV3 (E10K)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 136661	NM_033337.3(CAV3):c.30G>A (p.Glu10=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 519540	NM_033337.3(CAV3):c.32C>T (p.Ala11Val)	CAV3 (A11V)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 179005	NM_033337.3(CAV3):c.39C>T (p.Ile13=)	CAV3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 162827	NM_033337.3(CAV3):c.40G>A (p.Val14Ile)	CAV3 (V14I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 509569	NM_033337.3(CAV3):c.51C>T (p.Ile17=)	CAV3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 180804	NM_033337.3(CAV3):c.53A>G (p.His18Arg)	CAV3 (H18R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 241748	NM_033337.3(CAV3):c.54C>T (p.His18=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 8283	NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)	CAV3, SSUH2 (R27Q)	Single nucleotide variant (missense variant)	Distal myopathy, Tateyama type +6 more	GPathogenic
Select item 180805	NM_033337.3(CAV3):c.88A>T (p.Lys30Ter)	CAV3 (K30*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 637987	NM_033337.3(CAV3):c.89A>G (p.Lys30Arg)	CAV3 (K30R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 31709	NM_033337.3(CAV3):c.99C>T (p.Asn33=)	CAV3	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +6 more	GBenign/Likely benign
Select item 1305329	NM_033337.3(CAV3):c.102_104del (p.Glu34del)	CAV3 (E34del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 96239	NM_033337.3(CAV3):c.109G>C (p.Val37Leu)	CAV3 (V37L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 383969	NM_033337.3(CAV3):c.114+8C>G	CAV3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385646	NM_033337.3(CAV3):c.114+20C>T	CAV3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 31723	NM_033337.3(CAV3):c.114+26G>A	CAV3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230885	NM_033337.3(CAV3):c.114+48G>A	CAV3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237309	NM_033337.3(CAV3):c.114+155C>A	CAV3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672199	NM_033337.3(CAV3):c.114+171C>G	CAV3	Single nucleotide variant (intron variant)	not provided	GBenign
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

<< First< Prev

Page of 2