CWF19L1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 768383	NM_018294.6(CWF19L1):c.1577G>A (p.Arg526Gln)	CHUK-DT, CWF19L1 (R486Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2220631	NM_018294.6(CWF19L1):c.1571G>A (p.Arg524His)	CHUK-DT, CWF19L1 (R279H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056968	NM_018294.6(CWF19L1):c.1568G>A (p.Arg523His)	CHUK-DT, CWF19L1 (R278H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GBenign
Select item 488455	NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del)	CHUK-DT, CWF19L1 (E519del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GUncertain significance
Select item 3256766	NM_018294.6(CWF19L1):c.1552G>A (p.Glu518Lys)	CWF19L1, CHUK-DT (E273K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 2578620	NM_018294.6(CWF19L1):c.1543A>G (p.Lys515Glu)	CHUK-DT, CWF19L1 (K270E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678602	NM_018294.6(CWF19L1):c.1523G>A (p.Trp508Ter)	CHUK-DT, CWF19L1 (W263* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 708368	NM_018294.6(CWF19L1):c.1511A>T (p.Asp504Val)	CHUK-DT, CWF19L1 (D259V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 504148	NM_018294.6(CWF19L1):c.1466_1467del (p.Phe489fs)	CWF19L1 (F489fs +3 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3378094	NM_018294.6(CWF19L1):c.1426A>G (p.Lys476Glu)	CWF19L1 (K231E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715239	NM_018294.6(CWF19L1):c.1419A>C (p.Thr473=)	CWF19L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716213	NM_018294.6(CWF19L1):c.1395A>C (p.Ala465=)	CWF19L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1711159	NM_018294.6(CWF19L1):c.1394C>T (p.Ala465Val)	CWF19L1 (A220V +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 2328886	NM_018294.6(CWF19L1):c.1390G>A (p.Ala464Thr)	CWF19L1 (A219T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675428	NM_018294.6(CWF19L1):c.1381C>T (p.Gln461Ter)	CWF19L1 (Q216* +3 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2497675	NM_018294.6(CWF19L1):c.1375-2A>G	CWF19L1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 792283	NM_018294.6(CWF19L1):c.1374+8A>G	CWF19L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 743502	NM_018294.6(CWF19L1):c.1374+7C>A	CWF19L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3270379	NM_018294.6(CWF19L1):c.1344G>T (p.Leu448Phe)	CWF19L1 (L203F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483287	NM_018294.6(CWF19L1):c.1283C>T (p.Thr428Ile)	CWF19L1 (T183I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281378	NM_018294.6(CWF19L1):c.1267C>G (p.Pro423Ala)	CWF19L1 (P178A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550804	NM_018294.6(CWF19L1):c.1262C>T (p.Pro421Leu)	CWF19L1 (P284L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787543	NM_018294.6(CWF19L1):c.1255-7C>A	CWF19L1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 813893	NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)	CWF19L1 (K142fs +2 more)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 3034201	NM_018294.6(CWF19L1):c.1152G>A (p.Glu384=)	CWF19L1	Single nucleotide variant (synonymous variant)	CWF19L1-related disorder	GLikely benign
Select item 488454	NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)	CWF19L1 (E384* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 976765	NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)	CWF19L1 (Q127* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 3270377	NM_018294.6(CWF19L1):c.1102A>G (p.Ile368Val)	CWF19L1 (I231V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711123	NM_018294.6(CWF19L1):c.1070G>T (p.Gly357Val)	CWF19L1 (G112V +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 737842	NM_018294.6(CWF19L1):c.1065A>G (p.Lys355=)	CWF19L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678624	NM_018294.6(CWF19L1):c.1063A>G (p.Lys355Glu)	CWF19L1 (K110E +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 981166	NM_018294.6(CWF19L1):c.1045T>G (p.Cys349Gly)	CWF19L1 (C104G +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17	GUncertain significance
Select item 2429271	NM_018294.6(CWF19L1):c.1045-2A>C	CWF19L1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 996893	NM_018294.6(CWF19L1):c.708+294_1044+1540del	CWF19L1	Deletion (splice acceptor variant +2 more)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 2347432	NM_018294.6(CWF19L1):c.1043A>G (p.His348Arg)	CWF19L1 (H103R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2682516	NM_018294.6(CWF19L1):c.1037G>T (p.Gly346Val)	CWF19L1 (G101V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722957	NM_018294.6(CWF19L1):c.965-6A>G	CWF19L1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 128882	NM_018294.6(CWF19L1):c.964+1G>A	CWF19L1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2578621	NM_018294.6(CWF19L1):c.964C>T (p.Pro322Ser)	CWF19L1 (P185S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996587	NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter)	CWF19L1 (Q180* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 253210	NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter)	CWF19L1 (K316* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 872771	NM_018294.6(CWF19L1):c.943C>T (p.Pro315Ser)	CWF19L1 (P315S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 806557	NM_018294.6(CWF19L1):c.942del (p.Pro315fs)	CWF19L1 (P178fs +2 more)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GLikely pathogenic
Select item 730375	NM_018294.6(CWF19L1):c.940C>T (p.His314Tyr)	CWF19L1 (H314Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GBenign
Select item 3079114	NM_018294.6(CWF19L1):c.931T>C (p.Ser311Pro)	CWF19L1 (S174P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229337	NM_018294.6(CWF19L1):c.922G>C (p.Asp308His)	CWF19L1 (D308H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239882	NM_018294.6(CWF19L1):c.917G>A (p.Gly306Asp)	CWF19L1 (G306D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079113	NM_018294.6(CWF19L1):c.905G>A (p.Arg302His)	CWF19L1 (R165H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055889	NM_018294.6(CWF19L1):c.900G>A (p.Arg300=)	CWF19L1	Single nucleotide variant (synonymous variant)	CWF19L1-related disorder	GBenign
Select item 3270378	NM_018294.6(CWF19L1):c.878A>C (p.Asp293Ala)	CWF19L1 (D293A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 379851	NM_018294.6(CWF19L1):c.850-2A>G	CWF19L1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2284857	NM_018294.6(CWF19L1):c.823A>G (p.Ile275Val)	CWF19L1 (I138V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711160	NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)	CWF19L1 (S137fs +2 more)	Duplication (frameshift variant)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 2470427	NM_018294.6(CWF19L1):c.818C>T (p.Ala273Val)	CWF19L1 (A28V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046074	NM_018294.6(CWF19L1):c.792C>T (p.Asn264=)	CWF19L1	Single nucleotide variant (synonymous variant)	CWF19L1-related disorder	GLikely benign
Select item 504028	NM_018294.6(CWF19L1):c.779del (p.Asp260fs)	CWF19L1 (D123fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 128881	NM_018294.6(CWF19L1):c.776C>T (p.Pro259Leu)	CWF19L1 (P259L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3079110	NM_018294.6(CWF19L1):c.746T>C (p.Met249Thr)	CWF19L1 (M112T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 128880	NM_018294.6(CWF19L1):c.720G>A (p.Ala240=)	CWF19L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 987461	NM_018294.6(CWF19L1):c.708+1G>A	CWF19L1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2231065	NM_018294.6(CWF19L1):c.694C>A (p.Pro232Thr)	CWF19L1 (P232T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 427092	NM_018294.6(CWF19L1):c.685G>T (p.Val229Phe)	CWF19L1 (V229F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2331325	NM_018294.6(CWF19L1):c.682A>G (p.Asn228Asp)	CWF19L1 (N228D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407270	NM_018294.6(CWF19L1):c.667T>C (p.Phe223Leu)	CWF19L1 (F223L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 976766	NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)	CWF19L1 (R222Q +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 3079109	NM_018294.6(CWF19L1):c.664C>T (p.Arg222Trp)	CWF19L1 (R222W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 419610	NM_018294.6(CWF19L1):c.622C>T (p.Arg208Ter)	CWF19L1 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 759923	NM_018294.6(CWF19L1):c.615T>G (p.Leu205=)	CWF19L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1675429	NM_018294.6(CWF19L1):c.612del (p.Arg204fs)	CWF19L1 (R204fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 800879	NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)	CWF19L1 (Y202* +1 more)	Duplication (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 3079108	NM_018294.6(CWF19L1):c.597G>T (p.Lys199Asn)	CWF19L1 (K199N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049798	NM_018294.6(CWF19L1):c.580T>C (p.Phe194Leu)	CWF19L1 (F194L +1 more)	Single nucleotide variant (missense variant +1 more)	CWF19L1-related disorder	GLikely benign
Select item 2355031	NM_018294.6(CWF19L1):c.574T>C (p.Tyr192His)	CWF19L1 (Y55H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523678	NM_018294.6(CWF19L1):c.557C>T (p.Thr186Met)	CWF19L1 (T186M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2307112	NM_018294.6(CWF19L1):c.540G>C (p.Leu180Phe)	CWF19L1 (L180F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1322180	NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter)	CWF19L1 (K174* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive spinocerebellar ataxia 17	GPathogenic
Select item 2541005	NM_018294.6(CWF19L1):c.512T>A (p.Val171Glu)	CWF19L1 (V34E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3270376	NM_018294.6(CWF19L1):c.481G>A (p.Val161Met)	CWF19L1 (V161M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 128879	NM_018294.6(CWF19L1):c.479G>A (p.Cys160Tyr)	CWF19L1 (C160Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 253212	NM_018294.6(CWF19L1):c.467del (p.Pro156fs)	CWF19L1 (P156fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GPathogenic/Likely pathogenic
Select item 2497673	NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)	CWF19L1 (I14S +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 741521	NM_018294.6(CWF19L1):c.437T>A (p.Phe146Tyr)	CWF19L1 (F146Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3079107	NM_018294.6(CWF19L1):c.417G>A (p.Met139Ile)	CWF19L1 (M139I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 719079	NM_018294.6(CWF19L1):c.375T>C (p.Gly125=)	CWF19L1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 984934	NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter)	CWF19L1 (E117*)	Single nucleotide variant (nonsense +2 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 493082	NM_018294.6(CWF19L1):c.338T>C (p.Leu113Pro)	CWF19L1 (L113P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2230721	NM_018294.6(CWF19L1):c.326A>C (p.Gln109Pro)	CWF19L1 (Q109P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352973	NM_018294.6(CWF19L1):c.313A>C (p.Ser105Arg)	CWF19L1 (S105R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2351552	NM_018294.6(CWF19L1):c.293G>A (p.Arg98His)	CWF19L1 (R98H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2618199	NM_018294.6(CWF19L1):c.277A>G (p.Ile93Val)	CWF19L1 (I93V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 716214	NM_018294.6(CWF19L1):c.257G>A (p.Gly86Glu)	CWF19L1 (G86E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3052789	NM_018294.6(CWF19L1):c.249T>C (p.Asp83=)	CWF19L1	Single nucleotide variant (synonymous variant +2 more)	CWF19L1-related disorder	GLikely benign
Select item 1685293	NM_018294.6(CWF19L1):c.187+1G>T	CWF19L1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive spinocerebellar ataxia 17	GLikely pathogenic
Select item 2315754	NM_018294.6(CWF19L1):c.122T>C (p.Val41Ala)	CWF19L1 (V41A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1801967	NM_018294.6(CWF19L1):c.118T>C (p.Cys40Arg)	CWF19L1 (C40R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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