"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1285153	NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 235603	NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)	CACNA1A, LOC108663985	Microsatellite (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
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 93562	NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)	CACNA1A	Single nucleotide variant (synonymous variant)	Migraine, familial hemiplegic, 1 +6 more	GBenign/Likely benign
Select item 585581	NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)	CACNA1A (R2090Q +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GConflicting classifications of pathogenicity
Select item 446936	NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)	CACNA1A (A2006T +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity
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)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 128553	NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 128551	NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)	CACNA1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 68427	NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)	CACNA1A (E993V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 68426	NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)	CACNA1A (E918D +2 more)	Single nucleotide variant (missense variant)	not specified +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 68420	NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	CACNA1A (A454T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +7 more	GBenign/Likely benign
Select item 93559	NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)	CACNA1A	Single nucleotide variant (synonymous variant)	Migraine, familial hemiplegic, 1 +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