CAV3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
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 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	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 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 144395	GRCh38/hg38 3p26.1-25.3(chr3:7401136-8995777)x3	CAV3, GRM7 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
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 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
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 31751	NM_033337.2(CAV3):c.(?_-67)_(*898_?)del	CAV3, OXTR	Deletion	not provided	Gnot provided
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 662861	NC_000003.12:g.(?_8733867)_(8745877_?)del	CAV3, OXTR	Deletion	Long QT syndrome	GPathogenic
Select item 648527	NC_000003.11:g.(?_8775553)_(8787563_?)dup	CAV3, OXTR	Duplication	Long QT syndrome	GUncertain significance
Select item 809409	NM_033337.3(CAV3):c.-2C>A	CAV3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 862356	NM_033337.3(CAV3):c.5T>C (p.Met2Thr)	CAV3 (M2T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 409261	NM_033337.3(CAV3):c.6_7del (p.Met2fs)	CAV3 (M2fs)	Deletion (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1479480	NM_033337.3(CAV3):c.7G>A (p.Ala3Thr)	CAV3 (A3T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 290919	NM_033337.3(CAV3):c.10_17del (p.Glu4fs)	CAV3 (E4fs)	Deletion (frameshift variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1099610	NM_033337.3(CAV3):c.9A>G (p.Ala3=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 132982	NM_033337.3(CAV3):c.13dup (p.Glu5fs)	CAV3 (E5fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 618551	NM_033337.3(CAV3):c.15G>C (p.Glu5Asp)	CAV3 (E5D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2229766	NM_033337.3(CAV3):c.17A>G (p.His6Arg)	CAV3 (H6R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1163825	NM_033337.3(CAV3):c.17A>T (p.His6Leu)	CAV3 (H6L)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1782274	NM_033337.3(CAV3):c.18C>T (p.His6=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2761226	NM_033337.3(CAV3):c.19A>G (p.Thr7Ala)	CAV3 (T7A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1299390	NM_033337.3(CAV3):c.22G>A (p.Asp8Asn)	CAV3 (D8N)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GUncertain significance
Select item 1140751	NM_033337.3(CAV3):c.27C>G (p.Leu9=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely 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 1025712	NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)	CAV3 (Q12R)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GUncertain significance
Select item 526920	NM_033337.3(CAV3):c.36G>T (p.Gln12His)	CAV3 (Q12H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2452813	NM_033337.3(CAV3):c.37A>G (p.Ile13Val)	CAV3 (I13V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 207882	NM_033337.3(CAV3):c.37A>T (p.Ile13Phe)	CAV3 (I13F)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely pathogenic
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 8295	NM_033337.3(CAV3):c.40G>C (p.Val14Leu)	CAV3 (V14L)	Single nucleotide variant (missense variant)	Long QT syndrome 9	GPathogenic
Select item 1428683	NM_033337.3(CAV3):c.46G>A (p.Asp16Asn)	CAV3 (D16N)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1743981	NM_033337.3(CAV3):c.48T>C (p.Asp16=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2142044	NM_033337.3(CAV3):c.50T>C (p.Ile17Thr)	CAV3 (I17T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 1039643	NM_033337.3(CAV3):c.55T>C (p.Cys19Arg)	CAV3 (C19R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 651297	NM_033337.3(CAV3):c.56G>A (p.Cys19Tyr)	CAV3 (C19Y)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 950959	NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)	CAV3 (C19*)	Single nucleotide variant (nonsense)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1715073	NM_033337.3(CAV3):c.58A>C (p.Lys20Gln)	CAV3 (K20Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1046299	NM_033337.3(CAV3):c.58A>G (p.Lys20Glu)	CAV3 (K20E)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1751622	NM_033337.3(CAV3):c.60G>T (p.Lys20Asn)	CAV3 (K20N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 798090	NM_033337.3(CAV3):c.60G>A (p.Lys20=)	CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GLikely benign
Select item 1540815	NM_033337.3(CAV3):c.63G>A (p.Glu21=)	CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 931376	NM_033337.3(CAV3):c.65T>C (p.Ile22Thr)	CAV3 (I22T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1038299	NM_033337.3(CAV3):c.71T>C (p.Leu24Pro)	CAV3 (L24P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2506074	NM_033337.3(CAV3):c.72G>A (p.Leu24=)	CAV3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 846689	NM_033337.3(CAV3):c.79C>T (p.Arg27Ter)	CAV3 (R27*)	Single nucleotide variant (nonsense)	Long QT syndrome	GPathogenic
Select item 31722	NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)	CAV3 (R27G)	Single nucleotide variant (missense variant)	Long QT syndrome	GPathogenic
Select item 31747	NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)	CAV3 (R27P)	Single nucleotide variant (missense variant)	CAV3-related disorder +1 more	GConflicting classifications of pathogenicity
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 995331	NM_033337.3(CAV3):c.84C>G (p.Asp28Glu)	CAV3 (D28E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 8280	NM_033337.3(CAV3):c.84C>A (p.Asp28Glu)	CAV3 (D28E)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GPathogenic
Select item 526918	NM_033337.3(CAV3):c.85C>T (p.Pro29Ser)	CAV3 (P29S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 31712	NM_033337.3(CAV3):c.85C>A (p.Pro29Thr)	CAV3 (P29T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 1463693	NM_033337.3(CAV3):c.86C>A (p.Pro29His)	CAV3 (P29H)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance

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