CACNG2[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 59058	GRCh38/hg38 22q12.3(chr22:35753347-36593973)x3	APOL1, APOL2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 149028	GRCh38/hg38 22q12.3(chr22:36313122-36561017)x3	CACNG2, EIF3D +26 more	Copy number gain	See cases	GUncertain significance
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 2582511	NM_006078.5(CACNG2):c.956G>C (p.Arg319Pro)	CACNG2 (R296P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 10	GUncertain significance
Select item 1679231	NM_006078.5(CACNG2):c.944C>G (p.Thr315Arg)	CACNG2 (T292R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 10	GUncertain significance
Select item 2537588	NM_006078.5(CACNG2):c.865A>G (p.Asn289Asp)	CACNG2 (N266D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992728	NM_006078.5(CACNG2):c.859A>T (p.Thr287Ser)	CACNG2 (T264S +1 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 918096	NM_006078.5(CACNG2):c.815C>T (p.Thr272Met)	CACNG2 (T272M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 757564	NM_006078.5(CACNG2):c.759C>A (p.Ser253=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2561302	NM_006078.5(CACNG2):c.683G>C (p.Ser228Thr)	CACNG2 (S228T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701665	NM_006078.5(CACNG2):c.669C>G (p.Ile223Met)	CACNG2 (I200M +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 10	GUncertain significance
Select item 1754457	NM_006078.5(CACNG2):c.660C>T (p.Ala220=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2407338	NM_006078.5(CACNG2):c.658G>A (p.Ala220Thr)	CACNG2 (A197T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 252658	NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr)	CACNG2 (A214T +1 more)	Single nucleotide variant (missense variant +1 more)	CACNG2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2289166	NM_006078.5(CACNG2):c.629C>T (p.Ala210Val)	CACNG2 (A210V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2661916	NM_006078.5(CACNG2):c.589G>A (p.Ala197Thr)	CACNG2 (A174T +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 10	GUncertain significance
Select item 739995	NM_006078.5(CACNG2):c.579C>T (p.Val193=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	CACNG2-related condition +1 more	GLikely benign
Select item 2279115	NM_006078.5(CACNG2):c.576G>T (p.Met192Ile)	CACNG2 (M169I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2653107	NM_006078.5(CACNG2):c.549G>T (p.Gly183=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 487807	NM_006078.5(CACNG2):c.541T>C (p.Tyr181His)	CACNG2 (Y181H +1 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 2653108	NM_006078.5(CACNG2):c.483C>T (p.Ala161=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2331959	NM_006078.5(CACNG2):c.448A>G (p.Ile150Val)	CACNG2 (I127V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 210559	NM_006078.5(CACNG2):c.437-7C>A	CACNG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1701881	NM_006078.5(CACNG2):c.436+1G>A	CACNG2	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 30282	NM_006078.5(CACNG2):c.427G>C (p.Val143Leu)	CACNG2 (V120L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 10	GPathogenic
Select item 2533278	NM_006078.5(CACNG2):c.376G>A (p.Glu126Lys)	CACNG2 (E103K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470386	NM_006078.5(CACNG2):c.313A>T (p.Ser105Cys)	CACNG2 (S82C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2653109	NM_006078.5(CACNG2):c.306G>A (p.Arg102=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 931257	NM_006078.5(CACNG2):c.298G>T (p.Ala100Ser)	CACNG2 (A100S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 10 +1 more	GUncertain significance
Select item 434563	NM_006078.5(CACNG2):c.279A>C (p.Thr93=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3036720	NM_006078.5(CACNG2):c.228G>T (p.Leu76=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	CACNG2-related condition	GBenign
Select item 376862	NM_006078.5(CACNG2):c.212-12C>A	CACNG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692446	NM_006078.5(CACNG2):c.190T>C (p.Trp64Arg)	CACNG2 (W41R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2439696	NM_006078.5(CACNG2):c.136A>C (p.Ser46Arg)	CACNG2 (S23R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 10	GUncertain significance
Select item 747545	NM_006078.5(CACNG2):c.105C>T (p.Tyr35=)	CACNG2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	APOL2, APOL3 +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1808185	GRCh37/hg19 22q12.3(chr22:36751242-36971521)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 1807621	GRCh37/hg19 22q12.3(chr22:36693899-36963432)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 1339884	GRCh37/hg19 22q12.3(chr22:36831028-37009180)x3	CACNG2, EIF3D +2 more	Copy number gain	not provided	Gnot provided
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 688821	GRCh37/hg19 22q12.3(chr22:36831984-37009111)x3	CACNG2, EIF3D +2 more	Copy number gain	not provided	GUncertain significance
Select item 687399	GRCh37/hg19 22q12.3(chr22:36831022-37009180)x4	CACNG2, EIF3D +2 more	Copy number gain	not provided	GUncertain significance
Select item 686689	GRCh37/hg19 22q12.3(chr22:36704833-36968932)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685333	GRCh37/hg19 22q12.3(chr22:36746223-36971882)x3	CACNG2, EIF3D +3 more	Copy number gain	not provided	GUncertain significance
Select item 560096	Single allele	TXN2, CACNG2 +2 more	Duplication	not provided	GUncertain significance
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 60