"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 994534	NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)	CACNA1A (H2480Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 446945	NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)	CACNA1A (A2437T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CACNA1A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 445458	NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del)	CACNA1A, LOC108663985	Microsatellite (inframe_deletion +1 more)	not provided +4 more	GBenign/Likely benign
Select item 210557	NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)	CACNA1A	Insertion (inframe_insertion)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 93562	NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 382860	NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign
Select item 257511	NM_001127222.2(CACNA1A):c.5401-14C>T	CACNA1A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 68432	NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	CACNA1A (R1664Q +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 166766	NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +5 more	GBenign/Likely benign
Select item 387551	NM_001127222.2(CACNA1A):c.4591-9C>G	CACNA1A	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 385066	NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +4 more	GBenign/Likely benign
Select item 446925	NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 195935	NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	CACNA1A, LOC126862864 (V1393M +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +7 more	GPathogenic/Likely pathogenic
Select item 128553	NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +3 more	GBenign
Select item 93561	NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 1284924	NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 68428	NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	CACNA1A (G1105S +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GBenign/Likely benign
Select item 391877	NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)	CACNA1A (G1090C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 128552	NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +4 more	GBenign
Select item 128551	NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)	CACNA1A	Single nucleotide variant (synonymous variant)	Episodic ataxia type 2 +3 more	GBenign
Select item 194928	NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	CACNA1A (E1015K +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +5 more	GConflicting classifications of pathogenicity
Select item 1284941	NM_001127222.2(CACNA1A):c.3000G>A (p.Glu1000=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 68427	NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)	CACNA1A (E993V +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 387542	NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 386004	NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 68426	NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)	CACNA1A (E918D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 257510	NM_001127222.2(CACNA1A):c.2173-12C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +4 more	GBenign
Select item 128546	NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 382893	NM_001127222.2(CACNA1A):c.1782-20C>T	CACNA1A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 42 +2 more	GBenign
Select item 128545	NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 128544	NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 380908	NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 257508	NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)	CACNA1A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 42 +6 more	GBenign/Likely benign
Select item 515238	NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 68420	NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	CACNA1A (A454T +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +7 more	GBenign/Likely benign
Select item 392593	NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 257507	NM_001127222.2(CACNA1A):c.1345+7C>T	CACNA1A	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 1 +4 more	GBenign/Likely benign
Select item 93559	NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 128560	NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)	CACNA1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 128556	NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

ClinVar

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Items: 40