"GeneDx"[submitter] AND "CLIC5"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 59500	GRCh38/hg38 6p21.1(chr6:44993452-46061865)x3	CLIC5, LOC109611589 +22 more	Copy number gain	See cases	GUncertain significance
Select item 59501	GRCh38/hg38 6p21.1(chr6:45507351-46014903)x3	CLIC5, LOC110121112 +12 more	Copy number gain	See cases	GUncertain significance
Select item 667217	NM_016929.5(CLIC5):c.739C>T (p.Arg247Cys)	CLIC5 (R208C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 666618	NM_016929.5(CLIC5):c.696A>T (p.Ala232=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 682565	NM_016929.5(CLIC5):c.624G>A (p.Pro208=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 506168	NM_016929.5(CLIC5):c.589-9_589-8del	CLIC5	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 1317095	NM_016929.5(CLIC5):c.589-206G>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316401	NM_016929.5(CLIC5):c.588+1792T>C	CLIC5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1270644	NM_016929.5(CLIC5):c.588+1654A>G	CLIC5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 666619	NM_016929.5(CLIC5):c.588+1486T>C	CLIC5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 517543	NM_016929.5(CLIC5):c.588+1480T>C	CLIC5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 929957	NM_016929.5(CLIC5):c.515G>A (p.Arg172Gln)	CLIC5 (R133Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 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 +1 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	GLikely benign
Select item 666674	NM_016929.5(CLIC5):c.491C>G (p.Thr164Ser)	CLIC5 (T125S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 804712	NM_016929.5(CLIC5):c.477G>T (p.Glu159Asp)	CLIC5 (E159D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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	GLikely benign
Select item 1318346	NM_016929.5(CLIC5):c.435A>G (p.Leu145=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	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	GBenign/Likely benign
Select item 1316896	NM_016929.5(CLIC5):c.407-245T>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279883	NM_016929.5(CLIC5):c.406+139dup	CLIC5	Duplication (intron variant)	not provided	GBenign
Select item 930116	NM_016929.5(CLIC5):c.351C>T (p.Asp117=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 667094	NM_016929.5(CLIC5):c.341C>A (p.Ala114Glu)	CLIC5 (A75E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 597745	NM_016929.5(CLIC5):c.326G>A (p.Arg109Gln)	CLIC5 (R268Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1179820	NM_016929.5(CLIC5):c.300-20C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316480	NM_016929.5(CLIC5):c.299+34G>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508707	NM_016929.5(CLIC5):c.293C>A (p.Pro98His)	CLIC5 (P257H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 595595	NM_016929.5(CLIC5):c.253G>A (p.Val85Ile)	CLIC5 (V244I +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 666675	NM_016929.5(CLIC5):c.192C>T (p.His64=)	CLIC5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1321518	NM_016929.5(CLIC5):c.174-3C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682764	NM_016929.5(CLIC5):c.174-23C>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320591	NM_016929.5(CLIC5):c.174-322C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180167	NM_016929.5(CLIC5):c.173+76C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267700	NM_016929.5(CLIC5):c.173+23G>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513293	NM_016929.5(CLIC5):c.173+10G>A	CLIC5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1177707	NM_016929.5(CLIC5):c.64-145T>G	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265530	NM_016929.5(CLIC5):c.63+241T>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257337	NM_016929.5(CLIC5):c.63+141C>G	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316780	NM_016929.5(CLIC5):c.39C>A (p.Asp13Glu)	CLIC5 (D13E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1328768	NM_016929.5(CLIC5):c.-28C>A	CLIC5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1227669	NM_016929.5(CLIC5):c.-287G>T	CLIC5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1282372	NM_001114086.2(CLIC5):c.541-60702G>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269132	NM_001114086.2(CLIC5):c.540+306G>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289235	NM_001114086.2(CLIC5):c.540+300A>G	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263552	NM_001114086.2(CLIC5):c.540+291A>G	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285748	NM_001114086.2(CLIC5):c.540+171A>G	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508561	NM_001114086.2(CLIC5):c.522G>A (p.Glu174=)	CLIC5	Single nucleotide variant (synonymous 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	GBenign/Likely benign
Select item 499478	NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr)	CLIC5 (A121T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 508092	NM_001114086.2(CLIC5):c.340A>G (p.Thr114Ala)	CLIC5 (T114A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 707919	NM_001114086.2(CLIC5):c.299A>T (p.Gln100Leu)	CLIC5 (Q100L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1317623	NM_001114086.2(CLIC5):c.290G>A (p.Gly97Asp)	CLIC5 (G97D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 508150	NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser)	CLIC5 (R79S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1318116	NM_001114086.2(CLIC5):c.210C>T (p.Ser70=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1263230	NM_001114086.2(CLIC5):c.117C>T (p.Tyr39=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 666620	NM_001114086.2(CLIC5):c.10G>A (p.Glu4Lys)	CLIC5 (E4K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 508560	NM_001114086.2(CLIC5):c.-21A>G	CLIC5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 1279449	NM_001370649.1(CLIC5):c.-55+49121C>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291745	NM_001370649.1(CLIC5):c.-55+49000C>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 60