Related gene-specific medical variations for Gene (Select 3746) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362735	NM_001112741.2(KCNC1):c.647A>G (p.Asn216Ser)	KCNC1 (N216S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 3361118	NM_001112741.2(KCNC1):c.491G>C (p.Arg164Pro)	KCNC1 (R164P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360899	NM_001112741.2(KCNC1):c.552C>G (p.Tyr184Ter)	KCNC1 (Y184*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3360202	NM_001112741.2(KCNC1):c.1692G>T (p.Lys564Asn)	KCNC1 (K564N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244677	NC_000011.9:g.(?_17757550)_(17803281_?)del	KCNC1	Deletion	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 3236577	NM_001112741.2(KCNC1):c.1258T>G (p.Cys420Gly)	KCNC1 (C420G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2584669	NM_001112741.2(KCNC1):c.1607G>C (p.Arg536Pro)	KCNC1 (R536P)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 2432990	NM_001112741.2(KCNC1):c.785T>C (p.Met262Thr)	KCNC1 (M262T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 1319331	NM_001112741.2(KCNC1):c.1274T>A (p.Val425Glu)	KCNC1 (V425E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256593	NM_001112741.2(KCNC1):c.1384C>T (p.Arg462Trp)	KCNC1 (R462W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987044	NM_001112741.2(KCNC1):c.623G>A (p.Cys208Tyr)	KCNC1 (C208Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 931566	NM_001112741.2(KCNC1):c.11G>A (p.Gly4Glu)	KCNC1 (G4E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 930835	NM_001112741.2(KCNC1):c.486T>A (p.Asp162Glu)	KCNC1 (D162E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 806628	NM_001112741.2(KCNC1):c.15C>T (p.Asp5=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance