ClinVar for Gene (Select 122152368) - 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)	CWF19L1-related condition +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 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 1183088	NC_000010.11:g.100229692G>T	CHUK, CHUK-DT +1 more	Single nucleotide variant	not provided	GBenign
Select item 1181190	NC_000010.11:g.100229753C>T	CHUK-DT, CHUK	Single nucleotide variant	not provided	GBenign
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 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	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
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 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	ABCC2, ABLIM1 +821 more	Copy number gain	See cases	GPathogenic