"PreventionGenetics, part of Exact Sciences"[submitter] AND "KCNC3"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2302628	NM_004977.3(KCNC3):c.1822A>G (p.Thr608Ala)	KCNC3 (T532A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 710785	NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)	KCNC3 (S591G +1 more)	Single nucleotide variant (missense variant)	KCNC3-related disorder +3 more	GBenign/Likely benign
Select item 1598835	NM_004977.3(KCNC3):c.1719C>G (p.Asn573Lys)	KCNC3 (N497K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1630255	NM_004977.3(KCNC3):c.1557C>T (p.Val519=)	KCNC3	Single nucleotide variant (synonymous variant)	KCNC3-related disorder +1 more	GLikely benign
Select item 2142953	NM_004977.3(KCNC3):c.1326C>T (p.Arg442=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 995137	NM_004977.3(KCNC3):c.1080C>T (p.Thr360=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3046298	NM_004977.3(KCNC3):c.1002G>A (p.Pro334=)	KCNC3	Single nucleotide variant (synonymous variant)	KCNC3-related disorder	GLikely benign
Select item 717092	NM_004977.3(KCNC3):c.990C>T (p.Pro330=)	KCNC3	Single nucleotide variant (synonymous variant)	KCNC3-related disorder +1 more	GBenign/Likely benign
Select item 1589587	NM_004977.3(KCNC3):c.871-13_871-10del	KCNC3	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1649000	NM_004977.3(KCNC3):c.474C>T (p.Cys158=)	KCNC3	Single nucleotide variant (synonymous variant)	KCNC3-related disorder +1 more	GBenign/Likely benign
Select item 447623	NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)	KCNC3, LOC111811967 (S8W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity