Related gene-specific medical variations for Gene (Select 781) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064709	NM_000722.4(CACNA2D1):c.3152A>G (p.Asn1051Ser)	CACNA2D1 (N1051S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 110	GUncertain significance
Select item 3007734	NM_000722.4(CACNA2D1):c.1362+2_1362+5dup	CACNA2D1, CACNA2D1-AS1	Duplication (splice donor variant)	Brugada syndrome	GUncertain significance
Select item 2906288	NM_000722.4(CACNA2D1):c.1164A>T (p.Ser388=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2805299	NM_000722.4(CACNA2D1):c.1273-13_1273-12dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	Brugada syndrome	GBenign
Select item 2794097	NM_000722.4(CACNA2D1):c.1222+6A>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GUncertain significance
Select item 2761469	NM_000722.4(CACNA2D1):c.1294A>C (p.Arg432=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 2756248	NM_000722.4(CACNA2D1):c.1180T>C (p.Tyr394His)	CACNA2D1-AS1, CACNA2D1 (Y394H)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 2684491	GRCh37/hg19 7q21.11(chr7:81571121-82046219)x3	CACNA2D1	Copy number gain	not provided	GUncertain significance
Select item 2414511	NM_000722.4(CACNA2D1):c.1273-9del	CACNA2D1, CACNA2D1-AS1	Deletion (intron variant)	Brugada syndrome	GLikely benign
Select item 2153485	NM_000722.4(CACNA2D1):c.1223-11G>A	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2121274	NM_000722.4(CACNA2D1):c.1272+20G>A	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 2076858	NM_000722.4(CACNA2D1):c.1273-17_1273-12dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	Brugada syndrome	GLikely benign
Select item 2049687	NM_000722.4(CACNA2D1):c.1362+19C>G	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1770754	NM_000722.4(CACNA2D1):c.1359A>C (p.Ala453=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1769811	NM_000722.4(CACNA2D1):c.1317C>T (p.Asp439=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1769392	NM_000722.4(CACNA2D1):c.1300A>G (p.Met434Val)	CACNA2D1, CACNA2D1-AS1 (M434V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1755768	NM_000722.4(CACNA2D1):c.1231T>C (p.Tyr411His)	CACNA2D1-AS1, CACNA2D1 (Y411H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1745800	NM_000722.4(CACNA2D1):c.1195A>G (p.Ile399Val)	CACNA2D1, CACNA2D1-AS1 (I399V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743803	NM_000722.4(CACNA2D1):c.1187G>C (p.Arg396Thr)	CACNA2D1, CACNA2D1-AS1 (R396T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1732148	NM_000722.4(CACNA2D1):c.1144G>A (p.Val382Ile)	CACNA2D1, CACNA2D1-AS1 (V382I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1655446	NM_000722.4(CACNA2D1):c.1223-17A>T	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1643584	NM_000722.4(CACNA2D1):c.1144-11A>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1638410	NM_000722.4(CACNA2D1):c.1273-12_1273-11insTTTC	CACNA2D1, CACNA2D1-AS1	Insertion (intron variant)	Brugada syndrome	GLikely benign
Select item 1614180	NM_000722.4(CACNA2D1):c.1273-9C>T	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1607696	NM_000722.4(CACNA2D1):c.1144-17T>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1565569	NM_000722.4(CACNA2D1):c.1273-12dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	Brugada syndrome	GBenign
Select item 1550496	NM_000722.4(CACNA2D1):c.1273-12del	CACNA2D1, CACNA2D1-AS1	Deletion (intron variant)	Brugada syndrome	GBenign
Select item 1547076	NM_000722.4(CACNA2D1):c.1273-9dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	Brugada syndrome	GLikely benign
Select item 1527372	GRCh37/hg19 7q21.11(chr7:81967752-82376124)	CACNA2D1	Copy number gain	not specified	GUncertain significance
Select item 1496888	NM_000722.4(CACNA2D1):c.1156A>G (p.Thr386Ala)	CACNA2D1, CACNA2D1-AS1 (T386A)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1394039	NM_000722.4(CACNA2D1):c.1148G>A (p.Arg383His)	CACNA2D1, CACNA2D1-AS1 (R383H)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 1341075	GRCh37/hg19 7q21.11(chr7:81459641-82123313)x3	CACNA2D1	Copy number gain	not provided	GUncertain significance
Select item 1318249	NM_000722.4(CACNA2D1):c.1362+145T>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318169	NM_000722.4(CACNA2D1):c.1273-16_1273-12dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1317748	NM_000722.4(CACNA2D1):c.1222+45T>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317634	NM_000722.4(CACNA2D1):c.1273-177C>T	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316723	NM_000722.4(CACNA2D1):c.1272+290G>A	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316413	NM_000722.4(CACNA2D1):c.1272+130dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1316410	NM_000722.4(CACNA2D1):c.1223-233T>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296269	NM_000722.4(CACNA2D1):c.1223-123G>A	CACNA2D1-AS1, CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296268	NM_000722.4(CACNA2D1):c.1272+143T>G	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270207	NM_000722.4(CACNA2D1):c.1144-192T>C	CACNA2D1-AS1, CACNA2D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257044	NM_000722.4(CACNA2D1):c.1273-119G>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1132034	NM_000722.4(CACNA2D1):c.1144-6A>T	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome	GLikely benign
Select item 1103964	NM_000722.4(CACNA2D1):c.1281G>A (p.Leu427=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	Brugada syndrome	GLikely benign
Select item 1059449	NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser)	CACNA2D1, CACNA2D1-AS1 (N393S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 848540	NM_000722.4(CACNA2D1):c.1222+4A>T	CACNA2D1-AS1, CACNA2D1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 836988	NM_000722.4(CACNA2D1):c.1330G>A (p.Val444Ile)	CACNA2D1, CACNA2D1-AS1 (V444I)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 815002	GRCh37/hg19 7q21.11(chr7:81637116-82066096)x1	CACNA2D1	Copy number loss	not provided	GUncertain significance
Select item 688093	GRCh37/hg19 7q21.11(chr7:81655885-81916544)x1	CACNA2D1	Copy number loss	not provided	GUncertain significance
Select item 687964	GRCh37/hg19 7q21.11(chr7:81459915-81630442)x3	CACNA2D1	Copy number gain	not provided	GUncertain significance
Select item 668817	NM_000722.4(CACNA2D1):c.1362+282A>G	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 563308	GRCh37/hg19 7q21.11(chr7:81673771-81818395)x1	CACNA2D1	Copy number loss	not provided	GUncertain significance
Select item 563292	GRCh37/hg19 7q21.11(chr7:81972248-82058690)x1	CACNA2D1	Copy number loss	not provided	GUncertain significance
Select item 516741	NM_000722.4(CACNA2D1):c.1273-24_1273-22dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 516740	NM_000722.4(CACNA2D1):c.1273-24_1273-21dup	CACNA2D1, CACNA2D1-AS1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 515783	NM_000722.4(CACNA2D1):c.1158G>A (p.Thr386=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 506499	NM_000722.4(CACNA2D1):c.1144-18A>G	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GBenign
Select item 506290	NM_000722.4(CACNA2D1):c.1273-11C>T	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GLikely benign
Select item 443820	GRCh37/hg19 7q21.11(chr7:81713407-81840432)x3	CACNA2D1	Copy number gain	See cases	GUncertain significance
Select item 390097	NM_000722.4(CACNA2D1):c.1273-12T>C	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (intron variant)	Brugada syndrome +1 more	GLikely benign
Select item 381781	NM_000722.4(CACNA2D1):c.1279T>C (p.Leu427=)	CACNA2D1, CACNA2D1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 264275	NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys)	CACNA2D1, CACNA2D1-AS1 (R420K)	Single nucleotide variant (missense variant)	Brugada syndrome +1 more	GUncertain significance
Select item 254282	t(X;7)(p10;q21.11)	CACNA2D1	Translocation	Seizure +1 more	GLikely pathogenic
Select item 238179	NM_000722.4(CACNA2D1):c.1332C>T (p.Val444=)	CACNA2D1-AS1, CACNA2D1	Single nucleotide variant (synonymous variant)	Brugada syndrome +3 more	GBenign

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Links from Gene

Items: 65