ClinVar for MedGen (Select 344297) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236372	NM_004977.3(KCNC3):c.574C>G (p.His192Asp)	KCNC3 (H116D +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	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 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 2684248	NM_004977.3(KCNC3):c.1474A>G (p.Ile492Val)	KCNC3 (I416V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13 +1 more	GUncertain significance
Select item 2442148	NM_004977.3(KCNC3):c.1255G>A (p.Val419Ile)	KCNC3 (V343I +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13 +1 more	GUncertain significance
Select item 2432994	NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)	KCNC3 (G467S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	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 2432992	NM_004977.3(KCNC3):c.98C>G (p.Pro33Arg)	KCNC3, LOC111811967 (P33R)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
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 1679719	NM_004977.3(KCNC3):c.751G>A (p.Gly251Ser)	KCNC3 (G175S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	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 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 1509315	NM_004977.3(KCNC3):c.781GCGGGCGGC[3] (p.261AGG[3])	KCNC3, LOC130064972	Microsatellite (inframe_insertion)	Spinocerebellar ataxia type 13 +1 more	GConflicting classifications of pathogenicity
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 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 1298307	NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro)	KCNC3 (L301P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1064691	NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu)	KCNC3 (P541L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1029909	NM_004977.3(KCNC3):c.140G>A (p.Gly47Asp)	KCNC3, LOC111811967 (G47D)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 976029	NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)	KCNC3 (D332G +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GLikely pathogenic
Select item 803574	NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly)	KCNC3 (V528G +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 803573	NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)	KCNC3	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 710785	NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)	KCNC3 (S591G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 586086	NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg)	KCNC3 (G331R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 586085	NM_004977.3(KCNC3):c.984G>A (p.Pro328=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 522615	NM_004977.3(KCNC3):c.11_12del (p.Ser4fs)	KCNC3, LOC111811967 (S4fs)	Deletion (frameshift variant)	Spinocerebellar ataxia type 13	GPathogenic
Select item 522271	NM_004977.3(KCNC3):c.1884G>A (p.Ala628=)	KCNC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 522270	NM_004977.3(KCNC3):c.2170+14C>T	KCNC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 447624	NM_004977.3(KCNC3):c.315G>C (p.Thr105=)	KCNC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely 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 specified +2 more	GBenign/Likely benign
Select item 288184	NM_004977.3(KCNC3):c.1929C>T (p.Gly643=)	KCNC3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 13 +2 more	GBenign/Likely benign
Select item 288175	NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)	KCNC3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 13 +2 more	GBenign/Likely benign
Select item 245604	NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile)	KCNC3 (T428I +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GPathogenic
Select item 208671	NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)	KCNC3 (R423H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 193297	NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly)	KCNC3 (D63G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 13474	NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu)	KCNC3 (F448L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	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

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Items: 36