"GeneDx"[submitter] AND "KCND3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1210683	NM_001378969.1(KCND3):c.*257dup	KCND3	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1197975	NM_001378969.1(KCND3):c.*225T>C	KCND3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1267630	NM_001378969.1(KCND3):c.*215T>C	KCND3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 934368	NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)	KCND3 (A635T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 508338	NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2504256	NM_001378969.1(KCND3):c.1937C>A (p.Ala646Asp)	KCND3 (A627D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1782617	NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)	KCND3 (T640M +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 3363913	NM_001378969.1(KCND3):c.1900G>A (p.Ala634Thr)	KCND3 (A615T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934670	NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)	KCND3 (R611Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 3369139	NM_001378969.1(KCND3):c.1822T>C (p.Ser608Pro)	KCND3 (S589P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684144	NM_001378969.1(KCND3):c.1799G>C (p.Gly600Ala)	KCND3 (G581A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 192254	NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)	KCND3 (G581R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 679490	NM_001378969.1(KCND3):c.1767-72T>C	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683550	NM_001378969.1(KCND3):c.1766+260T>C	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215476	NM_001378969.1(KCND3):c.1766+224dup	KCND3	Duplication (intron variant)	not provided	GLikely benign
Select item 698033	NM_001378969.1(KCND3):c.1766+3G>A	KCND3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 533722	NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)	KCND3 (R568H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 1411863	NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)	KCND3 (R550C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 519470	NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys)	KCND3 (R549C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2506770	NM_001378969.1(KCND3):c.1586C>T (p.Pro529Leu)	KCND3 (P510L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 519434	NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)	KCND3 (M525V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1320947	NM_001378969.1(KCND3):c.1519-4G>A	KCND3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 386374	NM_001378969.1(KCND3):c.1519-4G>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22 +2 more	GBenign
Select item 1192977	NM_001378969.1(KCND3):c.1519-67A>G	KCND3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679013	NM_001378969.1(KCND3):c.1519-96G>A	KCND3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683551	NM_001378969.1(KCND3):c.1518+258G>A	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220812	NM_001378969.1(KCND3):c.1518+212A>C	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231624	NM_001378969.1(KCND3):c.1518+74C>T	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293604	NM_001378969.1(KCND3):c.1518+26A>T	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1647285	NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)	KCND3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 916208	NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs)	KCND3 (L497fs)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 682043	NM_001378969.1(KCND3):c.1462-208A>G	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 415286	NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)	KCND3 (T486A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 514725	NM_001378969.1(KCND3):c.1416C>T (p.Ile472=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 423997	NM_001378969.1(KCND3):c.1411C>T (p.Leu471Phe)	KCND3 (L471F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806190	NM_001378969.1(KCND3):c.1372-6dup	KCND3	Duplication (intron variant)	Spinocerebellar ataxia type 19/22 +1 more	GBenign/Likely benign
Select item 674846	NM_001378969.1(KCND3):c.1372-34G>A	KCND3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678725	NM_001378969.1(KCND3):c.1372-112dup	KCND3	Duplication (intron variant)	not provided	GLikely benign
Select item 1268832	NM_001378969.1(KCND3):c.1371+116C>T	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432538	NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)	KCND3 (T457M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2744181	NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala)	KCND3 (T457A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 510916	NM_001378969.1(KCND3):c.1359G>A (p.Ala453=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 447626	NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys)	KCND3 (E452K)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 192253	NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)	KCND3 (L450F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +4 more	GConflicting classifications of pathogenicity
Select item 386373	NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +3 more	GBenign
Select item 465163	NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +3 more	GBenign/Likely benign
Select item 519484	NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)	KCND3 (R431H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +3 more	GConflicting classifications of pathogenicity
Select item 1677507	NM_001378969.1(KCND3):c.1276C>T (p.Arg426Cys)	KCND3 (R426C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 679659	NM_001378969.1(KCND3):c.1270-153G>C	KCND3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683889	NM_001378969.1(KCND3):c.1269+270C>T	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676339	NM_001378969.1(KCND3):c.1269+154C>T	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259600	NM_001378969.1(KCND3):c.1269+15C>A	KCND3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 511559	NM_001378969.1(KCND3):c.1269+13C>T	KCND3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 393083	NM_001378969.1(KCND3):c.1256G>A (p.Arg419His)	KCND3 (R419H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1753667	NM_001378969.1(KCND3):c.1223G>A (p.Arg408Gln)	KCND3 (R408Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3342799	NM_001378969.1(KCND3):c.1217T>C (p.Phe406Ser)	KCND3 (F406S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581748	NM_001378969.1(KCND3):c.1201G>A (p.Val401Met)	KCND3 (V401M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372829	NM_001378969.1(KCND3):c.1195G>C (p.Val399Leu)	KCND3 (V399L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3363574	NM_001378969.1(KCND3):c.1187C>T (p.Ala396Val)	KCND3 (A396V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 192255	NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)	KCND3 (V392I)	Single nucleotide variant (missense variant)	Brugada syndrome 9 +2 more	GPathogenic/Likely pathogenic
Select item 375399	NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro)	KCND3 (S385P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 995131	NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser)	KCND3 (G384S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 507031	NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +3 more	GBenign/Likely benign
Select item 383943	NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)	KCND3 (G371R)	Single nucleotide variant (missense variant)	Brugada syndrome 9 +3 more	GPathogenic/Likely pathogenic
Select item 1249088	NM_001378969.1(KCND3):c.1107-110C>A	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270760	NM_001378969.1(KCND3):c.1107-250A>C	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672815	NM_001378969.1(KCND3):c.1106+296G>T	KCND3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511240	NM_001378969.1(KCND3):c.1106+10C>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22 +1 more	GBenign/Likely benign
Select item 1316217	NM_001378969.1(KCND3):c.1069T>C (p.Ser357Pro)	KCND3 (S357P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421079	NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu)	KCND3 (F351L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1315586	NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)	KCND3 (L328R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 415282	NM_001378969.1(KCND3):c.957C>G (p.Ser319=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 3375640	NM_001378969.1(KCND3):c.943A>G (p.Lys315Glu)	KCND3 (K315E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365283	NM_001378969.1(KCND3):c.923_924inv (p.Arg308Pro)	KCND3 (R308P)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2627944	NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)	KCND3	Duplication (inframe_insertion +1 more)	not provided	GLikely pathogenic
Select item 510014	NM_001378969.1(KCND3):c.879C>T (p.Arg293=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 976123	NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)	KCND3 (R290Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely pathogenic
Select item 1316178	NM_001378969.1(KCND3):c.838G>A (p.Glu280Lys)	KCND3 (E280K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581839	NM_001378969.1(KCND3):c.811T>G (p.Tyr271Asp)	KCND3 (Y271D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343668	NM_001378969.1(KCND3):c.809A>G (p.Tyr270Cys)	KCND3 (Y270C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509045	NM_001378969.1(KCND3):c.786C>T (p.Ile262=)	KCND3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1317441	NM_001378969.1(KCND3):c.785T>G (p.Ile262Ser)	KCND3 (I262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316355	NM_001378969.1(KCND3):c.772G>A (p.Val258Ile)	KCND3 (V258I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710629	NM_001378969.1(KCND3):c.740C>T (p.Ala247Val)	KCND3 (A247V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515916	NM_001378969.1(KCND3):c.727C>T (p.Leu243=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 240084	NM_001378969.1(KCND3):c.669G>C (p.Ser223=)	KCND3	Single nucleotide variant (synonymous variant)	Brugada syndrome 9 +4 more	GBenign/Likely benign
Select item 507820	NM_001378969.1(KCND3):c.651G>A (p.Pro217=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +2 more	GLikely benign
Select item 1753758	NM_001378969.1(KCND3):c.647T>G (p.Leu216Arg)	KCND3 (L216R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 222665	NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)	KCND3 (K214R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 240083	NM_001378969.1(KCND3):c.633G>T (p.Pro211=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +2 more	GBenign/Likely benign
Select item 264148	NM_001378969.1(KCND3):c.627G>C (p.Thr209=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +2 more	GBenign/Likely benign
Select item 2625194	NM_001378969.1(KCND3):c.533C>T (p.Thr178Ile)	KCND3 (T178I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 507053	NM_001378969.1(KCND3):c.528C>G (p.Pro176=)	KCND3	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1315984	NM_001378969.1(KCND3):c.496C>T (p.Arg166Cys)	KCND3 (R166C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315795	NM_001378969.1(KCND3):c.477C>A (p.Ser159=)	KCND3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 510042	NM_001378969.1(KCND3):c.459G>A (p.Ser153=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2499303	NM_001378969.1(KCND3):c.448G>T (p.Asp150Tyr)	KCND3 (D150Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662195	NM_001378969.1(KCND3):c.431C>T (p.Ala144Val)	KCND3 (A144V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497816	NM_001378969.1(KCND3):c.399C>G (p.Tyr133Ter)	KCND3 (Y133*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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