"Genome-Nilou Lab"[submitter] AND "CACNA1D"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192642	NM_001128840.3(CACNA1D):c.-54T>C	CACNA1D	Single nucleotide variant (5 prime UTR variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 226467	NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=)	CACNA1D	Single nucleotide variant (synonymous variant)	Sinoatrial node dysfunction and deafness +3 more	GBenign
Select item 518347	NM_001128840.3(CACNA1D):c.2407-17T>C	CACNA1D	Single nucleotide variant (intron variant)	Sinoatrial node dysfunction and deafness +2 more	GBenign
Select item 1192643	NM_001128840.3(CACNA1D):c.2473+103A>T	CACNA1D	Single nucleotide variant (intron variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 226470	NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=)	CACNA1D	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1192644	NM_001128840.3(CACNA1D):c.2812-43T>C	CACNA1D	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192678	NM_001128840.3(CACNA1D):c.3007-71G>C	CACNA1D	Single nucleotide variant (intron variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 1192679	NM_001128840.3(CACNA1D):c.4045-57G>C	CACNA1D	Single nucleotide variant (intron variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 1192680	NM_001128840.3(CACNA1D):c.4045-43G>A	CACNA1D	Single nucleotide variant (intron variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 1192681	NM_001128840.3(CACNA1D):c.4690+42G>A	CACNA1D	Single nucleotide variant (intron variant)	Aldosterone-producing adenoma with seizures and neurological abnormalities +2 more	GBenign
Select item 226478	NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=)	CACNA1D	Single nucleotide variant (synonymous variant)	Sinoatrial node dysfunction and deafness +3 more	GBenign