13517[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 151

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
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 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
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 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
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 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 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 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 2152715	NM_016929.5(CLIC5):c.723C>T (p.Tyr241=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 694310	NM_016929.5(CLIC5):c.644G>A (p.Trp215Ter)	CLIC5 (W176* +2 more)	Single nucleotide variant (nonsense +1 more)	Hearing loss, autosomal recessive	GLikely pathogenic
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 2813831	NM_016929.5(CLIC5):c.615T>C (p.Tyr205=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1065033	NM_016929.5(CLIC5):c.614A>G (p.Tyr205Cys)	CLIC5 (Y166C +2 more)	Single nucleotide variant (missense variant +1 more)	Hearing impairment	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 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 1651873	NM_016929.5(CLIC5):c.597C>T (p.Ala199=)	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 1914663	NM_016929.5(CLIC5):c.573G>A (p.Lys191=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	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 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 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 1174689	NM_016929.5(CLIC5):c.514C>T (p.Arg172Trp)	CLIC5 (R133W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 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 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 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 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 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 1670067	NM_016929.5(CLIC5):c.483C>T (p.Asp161=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	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 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 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 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 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 3010948	NM_016929.5(CLIC5):c.406+11C>T	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2960843	NM_016929.5(CLIC5):c.360C>G (p.Ser120=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 930116	NM_016929.5(CLIC5):c.351C>T (p.Asp117=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 930117	NM_016929.5(CLIC5):c.342G>A (p.Ala114=)	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 548473	NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp)	CLIC5 (N112D +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 +1 more	GConflicting classifications of pathogenicity
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 2089705	NM_016929.5(CLIC5):c.300-4C>T	CLIC5	Single nucleotide variant (intron variant)	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 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 1551846	NM_016929.5(CLIC5):c.299+16T>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 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 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 2058042	NM_016929.5(CLIC5):c.240C>T (p.Asp80=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 992576	NM_016929.5(CLIC5):c.224T>C (p.Leu75Pro)	CLIC5 (L234P +2 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1661121	NM_016929.5(CLIC5):c.216G>C (p.Pro72=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1597768	NM_016929.5(CLIC5):c.204C>T (p.Pro68=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632458	NM_016929.5(CLIC5):c.195C>T (p.Asn65=)	CLIC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 1574030	NM_016929.5(CLIC5):c.173+10G>C	CLIC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 2884464	NM_016929.5(CLIC5):c.99T>A (p.Pro33=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 160365	NM_016929.5(CLIC5):c.96T>A (p.Cys32Ter)	CLIC5 (C32* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 103	GPathogenic
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 2985848	NM_016929.5(CLIC5):c.72C>T (p.Ile24=)	CLIC5	Single nucleotide variant (synonymous variant +1 more)	not provided	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 992577	NM_016929.5(CLIC5):c.63+1G>A	CLIC5	Single nucleotide variant (intron variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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

<< First< Prev

Page of 2