"Revvity Omics, Revvity"[submitter] AND "CACNA1D"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1933983	NM_001128840.3(CACNA1D):c.1256G>A (p.Arg419Gln)	CACNA1D (R419Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228464	NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln)	CACNA1D (E451Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1305334	NM_000720.4(CACNA1D):c.1536G>C (p.Trp512Cys)	CACNA1D (W512C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402334	NM_001128840.3(CACNA1D):c.1517G>A (p.Arg506His)	CACNA1D (R526H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439654	NM_001128840.3(CACNA1D):c.2155G>A (p.Gly719Arg)	CACNA1D (G719R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439651	NM_001128840.3(CACNA1D):c.2474-2A>C	CACNA1D	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2439656	NM_001128840.3(CACNA1D):c.2919-6C>T	CACNA1D	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1443910	NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln)	CACNA1D (R1013Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2439658	NM_001128840.3(CACNA1D):c.3061G>A (p.Val1021Ile)	CACNA1D (V1021I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439653	NM_001128840.3(CACNA1D):c.3217C>A (p.Arg1073Ser)	CACNA1D (R1073S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439650	NM_001128840.3(CACNA1D):c.3253G>A (p.Asp1085Asn)	CACNA1D (D1085N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338002	NM_001128840.3(CACNA1D):c.3369C>A (p.Asn1123Lys)	CACNA1D, LOC129936904 (N1123K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1426310	NM_001128840.3(CACNA1D):c.3413T>C (p.Ile1138Thr)	CACNA1D, LOC129936904 (I1138T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2439649	NM_001128840.3(CACNA1D):c.3544G>A (p.Ala1182Thr)	CACNA1D (A1182T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439648	NM_001128840.3(CACNA1D):c.3631A>C (p.Met1211Leu)	CACNA1D (M1211L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050667	NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2439655	NM_001128840.3(CACNA1D):c.4000del (p.Glu1334fs)	CACNA1D (E1319fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1465740	NM_001128840.3(CACNA1D):c.4717C>T (p.Leu1573Phe)	CACNA1D (L1558F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1201626	NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys)	CACNA1D (E1658K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2439652	NM_001128840.3(CACNA1D):c.5725C>T (p.Arg1909Cys)	CACNA1D (R1885C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 505106	NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu)	CACNA1D (P1958L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227205	NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 667200	NM_001128840.3(CACNA1D):c.6373C>T (p.Arg2125Trp)	CACNA1D (R2101W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 667078	NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=)	CACNA1D	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign

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Items: 24