Related gene-specific medical variations for Gene (Select 55280) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	GBenign
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 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 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 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 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 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 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 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 987461	NM_018294.6(CWF19L1):c.708+1G>A	CWF19L1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 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 488455	NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del)	CWF19L1, CHUK-DT (E519del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive spinocerebellar ataxia 17 +1 more	GUncertain significance
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