8529[HGNC] - 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 31751	NM_033337.2(CAV3):c.(?_-67)_(*898_?)del	CAV3, OXTR	Deletion	not provided	Gnot provided
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 31750	NM_033337.3(CAV3):c.(114+1_115-1)_(*1_?)del	CAV3, OXTR	Deletion	not provided	Gnot provided
Select item 2653467	NM_033337.3(CAV3):c.115-3013G>A	CAV3, OXTR	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 31737	NM_033337.3(CAV3):c.115-23G>C	CAV3, OXTR	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1610867	NM_033337.3(CAV3):c.115-17C>T	CAV3, OXTR	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely 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 795364	NM_033337.3(CAV3):c.115-6del	CAV3, OXTR	Deletion (intron variant)	not provided	GLikely 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 1093022	NM_033337.3(CAV3):c.115-8C>T	CAV3, OXTR	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 757122	NM_033337.3(CAV3):c.115-6C>T	CAV3, OXTR	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2739653	NM_033337.3(CAV3):c.115-4G>C	CAV3, OXTR	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 1462468	NM_033337.3(CAV3):c.115-2A>T	CAV3, OXTR	Single nucleotide variant (splice acceptor variant)	Long QT syndrome	GUncertain significance
Select item 626723	NM_033337.3(CAV3):c.115-1G>A	CAV3, OXTR	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 415525	NM_033337.3(CAV3):c.117G>C (p.Val39=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2730882	NM_033337.3(CAV3):c.123_124inv (p.Glu42Lys)	CAV3, OXTR (E42K)	Inversion (missense variant)	Long QT syndrome	GUncertain significance
Select item 31717	NM_033337.3(CAV3):c.123T>C (p.Phe41=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Limb-Girdle Muscular Dystrophy, Dominant +5 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 3065550	NM_033337.3(CAV3):c.128A>G (p.Asp43Gly)	CAV3, OXTR (D43G)	Single nucleotide variant (missense variant)	Rippling muscle disease 2	GLikely pathogenic
Select item 579228	NM_033337.3(CAV3):c.128A>T (p.Asp43Val)	CAV3, OXTR (D43V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 506389	NM_033337.3(CAV3):c.129C>T (p.Asp43=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 850682	NM_033337.3(CAV3):c.130G>A (p.Val44Met)	CAV3, OXTR (V44M)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 864417	NM_033337.3(CAV3):c.131T>C (p.Val44Ala)	CAV3, OXTR (V44A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 1606545	NM_033337.3(CAV3):c.132G>A (p.Val44=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 846593	NM_033337.3(CAV3):c.133A>G (p.Ile45Val)	CAV3, OXTR (I45V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 501741	NM_033337.3(CAV3):c.134T>A (p.Ile45Asn)	OXTR, CAV3 (I45N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2022389	NM_033337.3(CAV3):c.135C>A (p.Ile45=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 701335	NM_033337.3(CAV3):c.135C>T (p.Ile45=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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)	Long QT syndrome +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 2011121	NM_033337.3(CAV3):c.140A>G (p.Glu47Gly)	CAV3, OXTR (E47G)	Single nucleotide variant (missense variant)	Long QT syndrome	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 409259	NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)	CAV3, OXTR (P48R)	Single nucleotide variant (missense variant)	Long QT syndrome +6 more	GUncertain significance
Select item 46533	NM_033337.3(CAV3):c.144T>C (p.Pro48=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2009971	NM_033337.3(CAV3):c.146T>C (p.Val49Ala)	CAV3, OXTR (V49A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1153870	NM_033337.3(CAV3):c.147G>A (p.Val49=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1489175	NM_033337.3(CAV3):c.152C>T (p.Thr51Ile)	CAV3, OXTR (T51I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1774797	NM_033337.3(CAV3):c.153C>G (p.Thr51=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1180807	NM_033337.3(CAV3):c.154_155dup (p.Ser53fs)	CAV3, OXTR (S53fs)	Duplication (frameshift variant)	Abnormality of the musculature	GLikely pathogenic
Select item 2882848	NM_033337.3(CAV3):c.157A>C (p.Ser53Arg)	CAV3, OXTR (S53R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 966710	NM_033337.3(CAV3):c.159C>G (p.Ser53Arg)	CAV3, OXTR (S53R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1982948	NM_033337.3(CAV3):c.160T>G (p.Phe54Val)	CAV3, OXTR (F54V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1776809	NM_033337.3(CAV3):c.162T>G (p.Phe54Leu)	CAV3, OXTR (F54L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2418634	NM_033337.3(CAV3):c.163G>A (p.Asp55Asn)	CAV3, OXTR (D55N)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2452812	NM_033337.3(CAV3):c.164A>G (p.Asp55Gly)	CAV3, OXTR (D55G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1009203	NM_033337.3(CAV3):c.165C>G (p.Asp55Glu)	CAV3, OXTR (D55E)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 639987	NM_033337.3(CAV3):c.165del (p.Asp55fs)	CAV3, OXTR (D55fs)	Deletion (frameshift variant)	Long QT syndrome +1 more	GUncertain significance
Select item 457129	NM_033337.3(CAV3):c.165C>T (p.Asp55=)	OXTR, CAV3	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 8278	NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)	CAV3, OXTR (G56S)	Single nucleotide variant (missense variant)	not provided +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)	Cardiomyopathy +3 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=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Long QT syndrome +6 more	GBenign/Likely benign
Select item 409260	NM_033337.3(CAV3):c.172T>G (p.Trp58Gly)	CAV3, OXTR (W58G)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
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 1191338	NM_033337.3(CAV3):c.177G>A (p.Lys59=)	CAV3, OXTR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign

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