"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CACNA1A"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380587	NM_001127222.2(CACNA1A):c.6780+5G>A	CACNA1A, LOC130063717	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 645212	NM_001127222.2(CACNA1A):c.6780+3G>C	CACNA1A, LOC130063717	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +2 more	GUncertain significance
Select item 657347	NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp)	CACNA1A, LOC130063717 (R2242W +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 68440	NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	CACNA1A (R2135C +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 3380588	NM_001127222.2(CACNA1A):c.6371C>T (p.Ser2124Leu)	CACNA1A (S2124L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 643682	NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)	CACNA1A (R2107W +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 853750	NM_001127221.2(CACNA1A):c.5537G>T (p.Arg1846Leu)	CACNA1A (R1846L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 8490	NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)	CACNA1A (I1809L +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GPathogenic
Select item 8495	NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	CACNA1A (R1666H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3380589	NM_001127222.2(CACNA1A):c.4203A>T (p.Lys1401Asn)	CACNA1A, LOC126862864 (K1401N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195935	NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	CACNA1A, LOC126862864 (V1393M +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +7 more	GPathogenic/Likely pathogenic
Select item 3380911	NM_001127222.2(CACNA1A):c.3933_3990-3287del	CACNA1A, LOC121852980 +1 more	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 562220	NM_001127222.2(CACNA1A):c.3692+1G>T	CACNA1A	Single nucleotide variant (splice donor variant)	Episodic ataxia type 2	GPathogenic
Select item 834728	NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser)	CACNA1A (R1213S +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GUncertain significance
Select item 651845	NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)	CACNA1A (S1082L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 579310	NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)	CACNA1A (R1019P +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 391779	NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)	CACNA1A (G1016R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 194928	NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	CACNA1A (E1015K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 546570	NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)	CACNA1A (R931W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 8488	NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	CACNA1A (T666M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +4 more	GPathogenic
Select item 8505	NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	CACNA1A (R583Q +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GPathogenic
Select item 420347	NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)	CACNA1A (T409P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 547930	NM_001127222.2(CACNA1A):c.368A>T (p.Asp123Val)	CACNA1A (D123V)	Single nucleotide variant (missense variant)	Episodic ataxia type 2	GUncertain significance
Select item 1163127	NM_001127222.2(CACNA1A):c.191C>A (p.Pro64His)	CACNA1A (P64H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 24