"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KCNC1"[gen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 806628	NM_001112741.2(KCNC1):c.15C>T (p.Asp5=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1298508	NM_001112741.2(KCNC1):c.22G>T (p.Glu8Ter)	KCNC1 (E8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 623766	NM_001112741.2(KCNC1):c.743T>C (p.Ile248Thr)	KCNC1 (I248T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 856458	NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)	KCNC1 (R339*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy type 7 +1 more	GConflicting classifications of pathogenicity
Select item 2816357	NM_001112741.2(KCNC1):c.1078G>A (p.Ala360Thr)	KCNC1 (A360T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1142983	NM_001112741.2(KCNC1):c.1095C>T (p.Tyr365=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 475347	NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2062294	NM_001112741.2(KCNC1):c.1278C>T (p.Leu426=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 765685	NM_001112741.2(KCNC1):c.1317C>T (p.Phe439=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 2641659	NM_001112741.2(KCNC1):c.1359A>G (p.Pro453=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 542114	NM_001112741.2(KCNC1):c.1653C>T (p.Thr551=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign