ClinVar for Gene (Select 53405) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345387	NM_016929.5(CLIC5):c.*1G>A	CLIC5	Single nucleotide variant (3 prime UTR variant +1 more)	CLIC5-related disorder	GLikely benign
Select item 3246086	NC_000006.11:g.(?_45479963)_(45923001_?)del	CLIC5, RUNX2	Deletion	not provided	GPathogenic
Select item 3148899	GRCh37/hg19 6p21.1(chr6:44861182-46170500)x1	CLIC5, ENPP4 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3145765	NM_016929.5(CLIC5):c.491C>A (p.Thr164Asn)	CLIC5 (T125N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145764	NM_016929.5(CLIC5):c.142G>A (p.Val48Met)	CLIC5 (V207M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024172	NM_016929.5(CLIC5):c.401A>G (p.Asn134Ser)	CLIC5 (N134S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 103	GUncertain significance
Select item 3010948	NM_016929.5(CLIC5):c.406+11C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008146	NC_000006.12:g.46080189C>G	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985848	NM_016929.5(CLIC5):c.72C>T (p.Ile24=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962811	NC_000006.12:g.46080079T>C	CLIC5 (E55G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960843	NM_016929.5(CLIC5):c.360C>G (p.Ser120=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957372	NM_016929.5(CLIC5):c.242T>C (p.Val81Ala)	CLIC5 (V81A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955018	NM_016929.5(CLIC5):c.352A>G (p.Ile118Val)	CLIC5 (I118V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889356	NM_016929.5(CLIC5):c.179C>T (p.Pro60Leu)	CLIC5 (P219L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884464	NM_016929.5(CLIC5):c.99T>A (p.Pro33=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880549	NC_000006.12:g.46080002A>T	CLIC5 (Y81N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2877132	NC_000006.12:g.46079742C>T	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869867	NM_016929.5(CLIC5):c.407-12C>T	CLIC5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2835770	NM_016929.5(CLIC5):c.553G>A (p.Asp185Asn)	CLIC5 (D146N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818938	NM_016929.5(CLIC5):c.407-19T>C	CLIC5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2813831	NM_016929.5(CLIC5):c.615T>C (p.Tyr205=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807807	NC_000006.12:g.46080187T>A	CLIC5 (Y19F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770663	NC_000006.12:g.46080193C>T	CLIC5 (R17K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2727454	NC_000006.12:g.46080198A>G	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718556	NC_000006.12:g.46079776C>G	CLIC5 (C156S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2713841	NM_016929.5(CLIC5):c.209C>T (p.Thr70Met)	CLIC5 (T229M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2618082	NM_016929.5(CLIC5):c.697G>A (p.Ala233Thr)	CLIC5 (A194T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378025	NM_016929.5(CLIC5):c.512C>G (p.Ser171Cys)	CLIC5 (S132C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357340	NM_001114086.2(CLIC5):c.161A>G (p.His54Arg)	CLIC5 (H54R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351870	NM_016929.5(CLIC5):c.751T>G (p.Ser251Ala)	CLIC5 (S410A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2175062	NC_000006.12:g.46080020G>A	CLIC5 (Q75*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2173482	NC_000006.12:g.46079745C>T	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2171060	NM_016929.5(CLIC5):c.241G>A (p.Val81Met)	CLIC5 (V42M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2165522	NM_016929.5(CLIC5):c.748C>T (p.Arg250Ter)	CLIC5 (R211* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2152715	NM_016929.5(CLIC5):c.723C>T (p.Tyr241=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2124429	NC_000006.12:g.46080098T>G	CLIC5 (T49P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2089705	NM_016929.5(CLIC5):c.300-4C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067576	NC_000006.12:g.46079886G>A	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2058042	NM_016929.5(CLIC5):c.240C>T (p.Asp80=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056806	NM_016929.5(CLIC5):c.559A>C (p.Asn187His)	CLIC5 (N187H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2030442	NM_016929.5(CLIC5):c.512C>T (p.Ser171Phe)	CLIC5 (S171F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925217	NM_016929.5(CLIC5):c.647G>A (p.Arg216Gln)	CLIC5 (R375Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1921835	NM_016929.5(CLIC5):c.671G>A (p.Arg224His)	CLIC5 (R185H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914663	NM_016929.5(CLIC5):c.573G>A (p.Lys191=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1902318	NM_016929.5(CLIC5):c.121A>T (p.Ile41Phe)	CLIC5 (I200F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1670067	NM_016929.5(CLIC5):c.483C>T (p.Asp161=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1661121	NM_016929.5(CLIC5):c.216G>C (p.Pro72=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651873	NM_016929.5(CLIC5):c.597C>T (p.Ala199=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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	GBenign
Select item 1632458	NM_016929.5(CLIC5):c.195C>T (p.Asn65=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604145	NC_000006.12:g.46080051A>T	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1597768	NM_016929.5(CLIC5):c.204C>T (p.Pro68=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574030	NM_016929.5(CLIC5):c.173+10G>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557322	NC_000006.12:g.46079934C>T	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1556926	NM_016929.5(CLIC5):c.300-16G>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1551846	NM_016929.5(CLIC5):c.299+16T>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1507607	NM_016929.5(CLIC5):c.325C>T (p.Arg109Trp)	CLIC5 (R268W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483161	NM_016929.5(CLIC5):c.407-8C>A	CLIC5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1481017	NC_000006.12:g.46080001T>G	CLIC5 (Y81S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1472692	NC_000006.12:g.46079900G>A	CLIC5 (Q115*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1449719	NC_000006.12:g.46079798A>T	CLIC5 (F149I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1446867	NM_016929.5(CLIC5):c.484G>A (p.Ala162Thr)	CLIC5 (A123T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1421698	NC_000006.12:g.46079737G>A	CLIC5 (A169V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1415989	NM_016929.5(CLIC5):c.110G>A (p.Arg37His)	CLIC5 (R196H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404098	NC_000006.12:g.46079983A>T	CLIC5 (I87K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1388139	NM_016929.5(CLIC5):c.608G>A (p.Arg203His)	CLIC5 (R203H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1382493	NM_016929.5(CLIC5):c.215C>T (p.Pro72Leu)	CLIC5 (P33L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348921	NM_016929.5(CLIC5):c.611A>C (p.Asn204Thr)	CLIC5 (N165T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1341311	GRCh37/hg19 6p21.1(chr6:45284656-46157024)x3	CLIC5, ENPP4 +3 more	Copy number gain	not provided	GLikely pathogenic
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 1321518	NM_016929.5(CLIC5):c.174-3C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1320591	NM_016929.5(CLIC5):c.174-322C>T	CLIC5	Single nucleotide variant (intron variant)	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 1318116	NM_001114086.2(CLIC5):c.210C>T (p.Ser70=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 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 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 1317095	NM_016929.5(CLIC5):c.589-206G>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316896	NM_016929.5(CLIC5):c.407-245T>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1316480	NM_016929.5(CLIC5):c.299+34G>C	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 1291745	NM_001370649.1(CLIC5):c.-55+49000C>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 1285748	NM_001114086.2(CLIC5):c.540+171A>G	CLIC5	Single nucleotide variant (intron variant)	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 1279883	NM_016929.5(CLIC5):c.406+139dup	CLIC5	Duplication (intron variant)	not provided	GBenign
Select item 1279449	NM_001370649.1(CLIC5):c.-55+49121C>A	CLIC5	Single nucleotide variant (intron variant)	not provided	GBenign
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 1269132	NM_001114086.2(CLIC5):c.540+306G>A	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 1265530	NM_016929.5(CLIC5):c.63+241T>C	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 1263230	NM_001114086.2(CLIC5):c.117C>T (p.Tyr39=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	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 1227669	NM_016929.5(CLIC5):c.-287G>T	CLIC5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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

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