"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLIC5"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 667217	NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys)	CLIC5 (R208C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 666619	NM_016929.5(CLIC5):c.588+1486T>C	CLIC5	Single nucleotide variant (intron variant)	CLIC5-related disorder +2 more	GBenign
Select item 517543	NM_016929.5(CLIC5):c.588+1480T>C	CLIC5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 720648	NM_016929.5(CLIC5):c.508G>C (p.Gly170Arg)	CLIC5 (G329R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1317635	NM_016929.5(CLIC5):c.499G>A (p.Glu167Lys)	CLIC5 (E128K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1670067	NM_016929.5(CLIC5):c.483C>T (p.Asp161=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 804712	NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp)	CLIC5 (E159D +2 more)	Single nucleotide variant (missense variant +1 more)	CLIC5-related disorder +1 more	GBenign/Likely benign
Select item 1318088	NM_016929.5(CLIC5):c.456G>T (p.Leu152=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1318346	NM_016929.5(CLIC5):c.435A>G (p.Leu145=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1224185	NM_016929.5(CLIC5):c.425C>T (p.Thr142Ile)	CLIC5 (T103I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 667094	NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu)	CLIC5 (A75E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 548473	NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp)	CLIC5 (N112D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 597745	NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)	CLIC5 (R268Q +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1637110	NM_016929.5(CLIC5):c.73G>A (p.Asp25Asn)	CLIC5 (D184N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1320650	NM_001114086.2(CLIC5):c.363A>G (p.Ala121=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 666677	NM_001114086.2(CLIC5):c.360C>T (p.Cys120=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	CLIC5-related disorder +2 more	GLikely benign
Select item 1317623	NM_001114086.2(CLIC5):c.290G>A (p.Gly97Asp)	CLIC5 (G97D)	Single nucleotide variant (missense variant +1 more)	CLIC5-related disorder +1 more	GLikely benign