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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374676	NM_000718.4(CACNA1B):c.30C>T (p.Gly10=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996854	NM_000718.4(CACNA1B):c.79G>T (p.Gly27Cys)	CACNA1B, LOC100133077 (G27C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	GUncertain significance
Select item 1175077	NM_000718.4(CACNA1B):c.4212C>T (p.Pro1404=)	CACNA1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773787	NM_000718.4(CACNA1B):c.4308+10C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 599477	NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=)	CACNA1B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 730408	NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=)	CACNA1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 724353	NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser)	CACNA1B (T2032S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar