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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522270	NM_004977.3(KCNC3):c.2170+14C>T	KCNC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 288184	NM_004977.3(KCNC3):c.1929C>T (p.Gly643=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 522271	NM_004977.3(KCNC3):c.1884G>A (p.Ala628=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 288175	NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)	KCNC3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 13 +2 more	GBenign/Likely benign
Select item 586085	NM_004977.3(KCNC3):c.984G>A (p.Pro328=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 447624	NM_004977.3(KCNC3):c.315G>C (p.Thr105=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 193297	NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly)	KCNC3 (D63G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign

ClinVar