"GeneDx"[submitter] AND "KCNC1"[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1226407	NM_001112741.2(KCNC1):c.-133C>A	KCNC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3372102	NM_001112741.2(KCNC1):c.43G>A (p.Gly15Ser)	KCNC1 (G15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 755835	NM_001112741.2(KCNC1):c.60G>A (p.Gln20=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 447617	NM_001112741.2(KCNC1):c.72G>A (p.Ser24=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1308752	NM_001112741.2(KCNC1):c.91G>C (p.Gly31Arg)	KCNC1 (G31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 936320	NM_001112741.2(KCNC1):c.114G>A (p.Ala38=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1311535	NM_001112741.2(KCNC1):c.163TTC[2] (p.Phe57del)	KCNC1 (F57del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1302178	NM_001112741.2(KCNC1):c.176G>A (p.Arg59His)	KCNC1 (R59H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 3371841	NM_001112741.2(KCNC1):c.207C>G (p.Asn69Lys)	KCNC1 (N69K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343021	NM_001112741.2(KCNC1):c.278T>C (p.Phe93Ser)	KCNC1 (F93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706244	NM_001112741.2(KCNC1):c.332A>G (p.Gln111Arg)	KCNC1 (Q111R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375608	NM_001112741.2(KCNC1):c.367G>A (p.Gly123Ser)	KCNC1 (G123S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310491	NM_001112741.2(KCNC1):c.442G>A (p.Glu148Lys)	KCNC1 (E148K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 575538	NM_001112741.2(KCNC1):c.554C>T (p.Ser185Leu)	KCNC1 (S185L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445584	NM_001112741.2(KCNC1):c.570+19A>T	KCNC1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 7 +1 more	GBenign/Likely benign
Select item 1204675	NM_001112741.2(KCNC1):c.570+93del	KCNC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1281445	NM_001112741.2(KCNC1):c.571-222T>C	KCNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206441	NM_001112741.2(KCNC1):c.571-172G>A	KCNC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788269	NM_001112741.2(KCNC1):c.665C>T (p.Thr222Met)	KCNC1 (T222M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 3373332	NM_001112741.2(KCNC1):c.680T>C (p.Val227Ala)	KCNC1 (V227A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475358	NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu)	KCNC1 (R228L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GBenign/Likely benign
Select item 542103	NM_001112741.2(KCNC1):c.692C>T (p.Thr231Met)	KCNC1 (T231M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 710630	NM_001112741.2(KCNC1):c.717C>T (p.Ala239=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GBenign/Likely benign
Select item 2503135	NM_001112741.2(KCNC1):c.722C>T (p.Thr241Met)	KCNC1 (T241M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475360	NM_001112741.2(KCNC1):c.744C>T (p.Ile248=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 475361	NM_001112741.2(KCNC1):c.831G>T (p.Ser277=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 3371853	NM_001112741.2(KCNC1):c.838A>G (p.Ile280Val)	KCNC1 (I280V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779590	NM_001112741.2(KCNC1):c.912G>A (p.Lys304=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 430428	NM_001112741.2(KCNC1):c.916G>T (p.Val306Leu)	KCNC1 (V306L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 542119	NM_001112741.2(KCNC1):c.933C>T (p.Arg311=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +2 more	GBenign/Likely benign
Select item 1878776	NM_001112741.2(KCNC1):c.934G>T (p.Val312Phe)	KCNC1 (V312F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314562	NM_001112741.2(KCNC1):c.946G>A (p.Val316Met)	KCNC1 (V316M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1127603	NM_001112741.2(KCNC1):c.972G>A (p.Leu324=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 856458	NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)	KCNC1 (R339*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 475345	NM_001112741.2(KCNC1):c.1017A>C (p.Arg339=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 575029	NM_001112741.2(KCNC1):c.1065C>T (p.Gly355=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3340779	NM_001112741.2(KCNC1):c.1066G>A (p.Val356Met)	KCNC1 (V356M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1307988	NM_001112741.2(KCNC1):c.1094A>G (p.Tyr365Cys)	KCNC1 (Y365C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580835	NM_001112741.2(KCNC1):c.1168G>T (p.Gly390Cys)	KCNC1 (G390C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700902	NM_001112741.2(KCNC1):c.1169G>T (p.Gly390Val)	KCNC1 (G390V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136124	NM_001112741.2(KCNC1):c.1176G>A (p.Trp392Ter)	KCNC1 (W392*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1309508	NM_001112741.2(KCNC1):c.1182del (p.Val395fs)	KCNC1 (V395fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1111289	NM_001112741.2(KCNC1):c.1182C>T (p.Ala394=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 3375706	NM_001112741.2(KCNC1):c.1213G>A (p.Asp405Asn)	KCNC1 (D405N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475347	NM_001112741.2(KCNC1):c.1236C>T (p.Ser412=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 488536	NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)	KCNC1 (A421V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 567751	NM_001112741.2(KCNC1):c.1269G>A (p.Ala423=)	KCNC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 426760	NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met)	KCNC1 (V425M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GConflicting classifications of pathogenicity
Select item 2499412	NM_001112741.2(KCNC1):c.1280C>T (p.Thr427Ile)	KCNC1 (T427I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475348	NM_001112741.2(KCNC1):c.1287C>A (p.Ala429=)	KCNC1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3365213	NM_001112741.2(KCNC1):c.1290G>A (p.Met430Ile)	KCNC1 (M430I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 392871	NM_001112741.2(KCNC1):c.1294G>A (p.Val432Met)	KCNC1 (V432M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 835488	NM_001112741.2(KCNC1):c.1300G>C (p.Val434Leu)	KCNC1 (V434L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3368644	NM_001112741.2(KCNC1):c.1312A>G (p.Asn438Asp)	KCNC1 (N438D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307853	NM_001112741.2(KCNC1):c.1423G>A (p.Val475Ile)	KCNC1 (V475I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312325	NM_001112741.2(KCNC1):c.1432T>G (p.Ser478Ala)	KCNC1 (S478A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475351	NM_001112741.2(KCNC1):c.1450C>G (p.Gln484Glu)	KCNC1 (Q484E)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GConflicting classifications of pathogenicity
Select item 1224729	NM_001112741.2(KCNC1):c.1504+29C>T	KCNC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1228898	NM_001112741.2(KCNC1):c.1505-80C>A	KCNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1129846	NM_001112741.2(KCNC1):c.1539G>A (p.Ala513=)	KCNC1	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 7 +1 more	GLikely benign
Select item 1693037	NM_001112741.2(KCNC1):c.1549G>A (p.Glu517Lys)	KCNC1 (E517K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 1311752	NM_001112741.2(KCNC1):c.1582C>A (p.Pro528Thr)	KCNC1 (P528T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 573536	NM_001112741.2(KCNC1):c.1654G>A (p.Gly552Arg)	KCNC1 (G552R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 542104	NM_001112741.2(KCNC1):c.1659G>T (p.Glu553Asp)	KCNC1 (E553D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +2 more	GBenign/Likely benign
Select item 1044767	NM_001112741.2(KCNC1):c.1664C>T (p.Ala555Val)	KCNC1 (A555V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 7 +1 more	GUncertain significance
Select item 422256	NM_001112741.2(KCNC1):c.1670C>T (p.Pro557Leu)	KCNC1 (P557L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270011	NM_001112741.2(KCNC1):c.1693+29A>G	KCNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199773	NM_001112741.2(KCNC1):c.1693+36G>A	KCNC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302878	NM_001112741.2(KCNC1):c.1693+46G>A	KCNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183739	NM_001112741.2(KCNC1):c.1694-296C>T	KCNC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279676	NM_001112741.2(KCNC1):c.1694-44C>T	KCNC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308831	NM_001112741.2(KCNC1):c.1694-2A>C	KCNC1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1326708	NM_001112741.2(KCNC1):c.1717A>G (p.Ile573Val)	KCNC1 (I573V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219372	NM_001112741.2(KCNC1):c.*7G>A	KCNC1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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

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Items: 77