"GeneDx"[submitter] AND "KCNC3"[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 58802	GRCh38/hg38 19q13.33(chr19:50076580-50354608)x3	IZUMO2, KCNC3 +31 more	Copy number gain	See cases	GUncertain significance
Select item 1698028	NM_004977.3(KCNC3):c.*13del	KCNC3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1684109	NM_004977.3(KCNC3):c.2171-8A>C	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1344938	NM_004977.3(KCNC3):c.2171-25C>A	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257797	NM_004977.3(KCNC3):c.2171-26T>C	KCNC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 522270	NM_004977.3(KCNC3):c.2170+14C>T	KCNC3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 13 +1 more	GBenign/Likely benign
Select item 1307976	NM_004977.3(KCNC3):c.2156G>T (p.Gly719Val)	KCNC3 (G643V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 422460	NM_004977.3(KCNC3):c.2079C>G (p.Ile693Met)	KCNC3 (I693M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1708801	NM_004977.3(KCNC3):c.1991A>T (p.Asn664Ile)	KCNC3 (N588I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1704026	NM_004977.3(KCNC3):c.1979-174del	KCNC3	Deletion (intron variant)	not provided	GLikely benign
Select item 1704145	NM_004977.3(KCNC3):c.1979-207C>T	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249055	NM_004977.3(KCNC3):c.1979-282C>A	KCNC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328781	NM_004977.3(KCNC3):c.1978+22C>G	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely 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 3373720	NM_004977.3(KCNC3):c.1880G>T (p.Gly627Val)	KCNC3 (G551V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312896	NM_004977.3(KCNC3):c.1873_1874del (p.Arg625fs)	KCNC3 (R549fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 804961	NM_004977.3(KCNC3):c.1844C>T (p.Ala615Val)	KCNC3 (A539V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742729	NM_004977.3(KCNC3):c.1774G>A (p.Gly592Arg)	KCNC3 (G592R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1723820	NM_004977.3(KCNC3):c.1718A>G (p.Asn573Ser)	KCNC3 (N497S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363465	NM_004977.3(KCNC3):c.1714C>G (p.Pro572Ala)	KCNC3 (P496A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211248	NM_004977.3(KCNC3):c.1696C>T (p.Pro566Ser)	KCNC3 (P490S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698165	NM_004977.3(KCNC3):c.1694G>C (p.Arg565Pro)	KCNC3 (R489P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424152	NM_004977.3(KCNC3):c.1693C>T (p.Arg565Trp)	KCNC3 (R565W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579912	NM_004977.3(KCNC3):c.1671GAA[2] (p.Lys559del)	KCNC3 (K483del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 424001	NM_004977.3(KCNC3):c.1648A>G (p.Met550Val)	KCNC3 (M550V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288175	NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)	KCNC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1305210	NM_004977.3(KCNC3):c.1505C>T (p.Thr502Met)	KCNC3 (T426M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311117	NM_004977.3(KCNC3):c.1366G>A (p.Ala456Thr)	KCNC3 (A380T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372864	NM_004977.3(KCNC3):c.1285C>T (p.Arg429Trp)	KCNC3 (R353W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208671	NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)	KCNC3 (R423H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 13473	NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)	KCNC3 (R420H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 447618	NM_004977.3(KCNC3):c.1196C>T (p.Ser399Leu)	KCNC3 (S399L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1695697	NM_004977.3(KCNC3):c.1135AGC[1] (p.Ser380del)	KCNC3 (S304del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3370085	NM_004977.3(KCNC3):c.1057G>A (p.Gly353Arg)	KCNC3 (G277R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391603	NM_004977.3(KCNC3):c.1010T>C (p.Ile337Thr)	KCNC3 (I337T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363229	NM_004977.3(KCNC3):c.1000C>T (p.Pro334Ser)	KCNC3 (P258S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586085	NM_004977.3(KCNC3):c.984G>A (p.Pro328=)	KCNC3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 13 +1 more	GBenign/Likely benign
Select item 1178107	NM_004977.3(KCNC3):c.871-21C>G	KCNC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178188	NM_004977.3(KCNC3):c.871-135T>C	KCNC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579352	NM_004977.3(KCNC3):c.859C>G (p.Arg287Gly)	KCNC3 (R211G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506707	NM_004977.3(KCNC3):c.814T>A (p.Trp272Arg)	KCNC3, LOC130064972 (W196R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363230	NM_004977.3(KCNC3):c.800C>G (p.Thr267Arg)	KCNC3, LOC130064972 (T191R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712835	NM_004977.3(KCNC3):c.692G>C (p.Gly231Ala)	KCNC3 (G155A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309681	NM_004977.3(KCNC3):c.634A>G (p.Asn212Asp)	KCNC3 (N136D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309956	NM_004977.3(KCNC3):c.405CTT[1] (p.Phe137del)	KCNC3 (F137del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1314281	NM_004977.3(KCNC3):c.404dup (p.Phe136fs)	KCNC3 (F136fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1312636	NM_004977.3(KCNC3):c.228_249del (p.Met77fs)	KCNC3 (M1fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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
Select item 1517239	NM_004977.3(KCNC3):c.173C>T (p.Pro58Leu)	KCNC3 (P58L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1520362	NM_004977.3(KCNC3):c.116AGC[6] (p.Gln41_Gln42dup)	KCNC3, LOC111811967	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 284725	NM_004977.3(KCNC3):c.123G>T (p.Gln41His)	KCNC3, LOC111811967 (Q41H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2430859	NM_004977.3(KCNC3):c.118C>T (p.Gln40Ter)	KCNC3, LOC111811967 (Q40*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2444559	NM_004977.3(KCNC3):c.46dup (p.Ala16fs)	KCNC3, LOC111811967 (A16fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1801886	NM_004977.3(KCNC3):c.40C>T (p.Gln14Ter)	KCNC3, LOC111811967 (Q14*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 488936	NM_004977.3(KCNC3):c.11C>G (p.Ser4Ter)	KCNC3, LOC111811967 (S4*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1697993	NM_004977.3(KCNC3):c.-94G>T	KCNC3, LOC111811967	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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Items: 58