3748[geneid] - ClinVar - NCBI

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	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 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 157456	NM_001025778.1(VRK3):c.-376583_-65+1628dup	IZUMO2, KCNC3 +46 more	Duplication	Normal pregnancy	Gnot provided
Select item 58802	GRCh38/hg38 19q13.33(chr19:50076580-50354608)x3	IZUMO2, KCNC3 +31 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 3233930	NM_004977.3(KCNC3):c.*1324GGTGGGG[1]	KCNC3	Microsatellite (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2498794	NM_004977.3(KCNC3):c.*1205C>A	KCNC3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1698028	NM_004977.3(KCNC3):c.*13del	KCNC3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1298784	NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr)	KCNC3 (A673T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 916248	NM_004977.3(KCNC3):c.2244C>T (p.Asn748=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3287525	NM_004977.3(KCNC3):c.2243A>T (p.Asn748Ile)	KCNC3 (N672I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212130	NM_004977.3(KCNC3):c.2215G>A (p.Gly739Ser)	KCNC3 (G663S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251785	NM_004977.3(KCNC3):c.2207G>A (p.Arg736His)	KCNC3 (R660H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287524	NM_004977.3(KCNC3):c.2197C>A (p.Gln733Lys)	KCNC3 (Q657K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2650318	NM_004977.3(KCNC3):c.2196C>T (p.Pro732=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740658	NM_004977.3(KCNC3):c.2196C>G (p.Pro732=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211215	NM_004977.3(KCNC3):c.2171-2A>C	KCNC3	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
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 1940472	NM_004977.3(KCNC3):c.2170+17A>T	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012353	NM_004977.3(KCNC3):c.2170+15del	KCNC3	Deletion (intron variant)	not provided	GBenign
Select item 1573154	NM_004977.3(KCNC3):c.2170+14C>G	KCNC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1570014	NM_004977.3(KCNC3):c.2170+14C>A	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 1899427	NM_004977.3(KCNC3):c.2170+10C>T	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656509	NM_004977.3(KCNC3):c.2170+8G>T	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985024	NM_004977.3(KCNC3):c.2165G>A (p.Arg722Gln)	KCNC3 (R646Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2432993	NM_004977.3(KCNC3):c.2143C>T (p.Pro715Ser)	KCNC3 (P639S +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1256136	NM_004977.3(KCNC3):c.2139T>C (p.Tyr713=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2973892	NM_004977.3(KCNC3):c.2138A>G (p.Tyr713Cys)	KCNC3 (Y637C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2299978	NM_004977.3(KCNC3):c.2137T>C (p.Tyr713His)	KCNC3 (Y637H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1626858	NM_004977.3(KCNC3):c.2133C>T (p.Thr711=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 995166	NM_004977.3(KCNC3):c.2130C>T (p.Leu710=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 753064	NM_004977.3(KCNC3):c.2127C>G (p.Leu709=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3113114	NM_004977.3(KCNC3):c.2123T>G (p.Phe708Cys)	KCNC3 (F632C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1358230	NM_004977.3(KCNC3):c.2120G>C (p.Cys707Ser)	KCNC3 (C707S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 808628	NM_004977.3(KCNC3):c.2113C>T (p.Arg705Ter)	KCNC3 (R629* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1368109	NM_004977.3(KCNC3):c.2107C>T (p.Arg703Trp)	KCNC3 (R627W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1634710	NM_004977.3(KCNC3):c.2102A>C (p.Tyr701Ser)	KCNC3 (Y625S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 447622	NM_004977.3(KCNC3):c.2093G>A (p.Arg698His)	KCNC3 (R698H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2185315	NM_004977.3(KCNC3):c.2082G>A (p.Thr694=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1971318	NM_004977.3(KCNC3):c.2081C>T (p.Thr694Met)	KCNC3 (T618M +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 1679940	NM_004977.3(KCNC3):c.2077A>C (p.Ile693Leu)	KCNC3 (I617L +1 more)	Single nucleotide variant (missense variant +1 more)	Tip-toe gait	GLikely pathogenic
Select item 1937622	NM_004977.3(KCNC3):c.2060C>T (p.Pro687Leu)	KCNC3 (P611L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2991621	NM_004977.3(KCNC3):c.2057C>T (p.Ser686Phe)	KCNC3 (S610F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038039	NM_004977.3(KCNC3):c.2055G>A (p.Met685Ile)	KCNC3 (M685I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2409692	NM_004977.3(KCNC3):c.2032C>G (p.Pro678Ala)	KCNC3 (P602A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 995165	NM_004977.3(KCNC3):c.2023G>A (p.Glu675Lys)	KCNC3 (E599K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2325392	NM_004977.3(KCNC3):c.2021A>G (p.His674Arg)	KCNC3 (H674R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294975	NM_004977.3(KCNC3):c.2017G>A (p.Ala673Thr)	KCNC3 (A673T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2689283	NM_004977.3(KCNC3):c.2014C>G (p.Leu672Val)	KCNC3 (L596V +1 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 746460	NM_004977.3(KCNC3):c.2013G>A (p.Ala671=)	KCNC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1422193	NM_004977.3(KCNC3):c.2012C>T (p.Ala671Val)	KCNC3 (A595V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380635	NM_004977.3(KCNC3):c.2006C>T (p.Ala669Val)	KCNC3 (A593V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 995164	NM_004977.3(KCNC3):c.1991A>G (p.Asn664Ser)	KCNC3 (N588S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2362829	NM_004977.3(KCNC3):c.1985G>A (p.Arg662His)	KCNC3 (R586H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2053137	NM_004977.3(KCNC3):c.1984C>T (p.Arg662Cys)	KCNC3 (R586C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1629912	NM_004977.3(KCNC3):c.1979-21_1979-18del	KCNC3	Microsatellite (intron variant)	not provided	GLikely benign
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 1604816	NM_004977.3(KCNC3):c.1978+17G>A	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908550	NM_004977.3(KCNC3):c.1978+13G>A	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632578	NM_004977.3(KCNC3):c.1978+12C>T	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763688	NM_004977.3(KCNC3):c.1978+11G>C	KCNC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730517	NM_004977.3(KCNC3):c.1978+3G>A	KCNC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2835480	NM_004977.3(KCNC3):c.1957G>T (p.Val653Leu)	KCNC3 (V577L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435547	NM_004977.3(KCNC3):c.1954G>A (p.Glu652Lys)	KCNC3 (E652K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722276	NM_004977.3(KCNC3):c.1941G>A (p.Pro647=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 435548	NM_004977.3(KCNC3):c.1940C>T (p.Pro647Leu)	KCNC3 (P647L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1918772	NM_004977.3(KCNC3):c.1938C>G (p.Cys646Trp)	KCNC3 (C646W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473990	NM_004977.3(KCNC3):c.1930G>A (p.Glu644Lys)	KCNC3 (E568K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1535493	NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser)	KCNC3 (G567S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13 +1 more	GBenign/Likely benign
Select item 2200875	NM_004977.3(KCNC3):c.1926C>T (p.Pro642=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860317	NM_004977.3(KCNC3):c.1925C>T (p.Pro642Leu)	KCNC3 (P642L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888976	NM_004977.3(KCNC3):c.1924C>G (p.Pro642Ala)	KCNC3 (P566A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689284	NM_004977.3(KCNC3):c.1903G>A (p.Gly635Arg)	KCNC3 (G559R +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1955042	NM_004977.3(KCNC3):c.1888G>A (p.Gly630Arg)	KCNC3 (G554R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522271	NM_004977.3(KCNC3):c.1884G>A (p.Ala628=)	KCNC3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 13 +1 more	GLikely benign
Select item 1806879	NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)	KCNC3 (A552V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1256135	NM_004977.3(KCNC3):c.1878G>A (p.Gly626=)	KCNC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2190727	NM_004977.3(KCNC3):c.1876G>A (p.Gly626Arg)	KCNC3 (G626R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573340	NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg)	KCNC3 (G550R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1298308	NM_004977.3(KCNC3):c.1876G>T (p.Gly626Trp)	KCNC3 (G550W +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 3022825	NM_004977.3(KCNC3):c.1875G>C (p.Arg625Ser)	KCNC3 (R549S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804962	NM_004977.3(KCNC3):c.1875G>T (p.Arg625Ser)	KCNC3 (R549S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1907836	NM_004977.3(KCNC3):c.1874G>T (p.Arg625Met)	KCNC3 (R549M +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 1632905	NM_004977.3(KCNC3):c.1863C>T (p.Pro621=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650319	NM_004977.3(KCNC3):c.1859A>C (p.His620Pro)	KCNC3 (H544P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 765353	NM_004977.3(KCNC3):c.1857G>A (p.Thr619=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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