9101[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 1295795	NM_005154.5(USP8):c.-58G>C	USP8	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 742571	NM_005154.5(USP8):c.24T>C (p.Pro8=)	USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789411	NM_005154.5(USP8):c.36C>T (p.Tyr12=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2910296	NM_005154.5(USP8):c.104+5G>C	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1600612	NM_005154.5(USP8):c.104+16C>T	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GBenign
Select item 2797257	NM_005154.5(USP8):c.104+17G>A	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2831270	NM_005154.5(USP8):c.104+20A>G	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1606296	NM_005154.5(USP8):c.249+21_249+23del	USP8	Deletion (intron variant)	Hereditary spastic paraplegia	GBenign
Select item 1629850	NM_005154.5(USP8):c.250-15T>C	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 781991	NM_005154.5(USP8):c.250-8A>C	USP8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 944583	NM_005154.5(USP8):c.254A>C (p.Tyr85Ser)	USP8 (Y85S)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1944960	NM_005154.5(USP8):c.268C>T (p.Leu90Phe)	USP8 (L90F)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2715851	NM_005154.5(USP8):c.297C>T (p.Val99=)	USP8	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GLikely benign
Select item 705055	NM_005154.5(USP8):c.297C>A (p.Val99=)	USP8	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GLikely benign
Select item 1438686	NM_005154.5(USP8):c.317C>G (p.Ser106Cys)	USP8 (S106C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1994556	NM_005154.5(USP8):c.335+4C>G	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 569358	NM_005154.5(USP8):c.335+7A>G	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 528042	NM_005154.5(USP8):c.397C>T (p.Arg133Trp)	USP8 (R133W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 704630	NM_005154.5(USP8):c.400C>T (p.Leu134=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GBenign
Select item 2061843	NM_005154.5(USP8):c.479C>G (p.Ser160Cys)	USP8 (S160C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2784231	NM_005154.5(USP8):c.494A>T (p.Gln165Leu)	USP8 (Q88L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2059829	NM_005154.5(USP8):c.499-13T>C	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2725674	NM_005154.5(USP8):c.513G>C (p.Lys171Asn)	USP8 (K171N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1934655	NM_005154.5(USP8):c.515A>G (p.Asn172Ser)	USP8 (N172S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2722157	NM_005154.5(USP8):c.530C>G (p.Thr177Ser)	USP8 (T177S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 705825	NM_005154.5(USP8):c.541+9G>A	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2832143	NM_005154.5(USP8):c.542-19T>C	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 723343	NM_005154.5(USP8):c.564A>G (p.Leu188=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2854846	NM_005154.5(USP8):c.578C>T (p.Thr193Met)	USP8 (T116M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 528043	NM_005154.5(USP8):c.583A>G (p.Lys195Glu)	USP8 (K195E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GBenign
Select item 1444287	NM_005154.5(USP8):c.587A>C (p.Asn196Thr)	USP8 (N119T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 705722	NM_005154.5(USP8):c.634G>A (p.Asp212Asn)	USP8 (D212N +1 more)	Single nucleotide variant (missense variant)	USP8-related condition +1 more	GLikely benign
Select item 1508275	NM_005154.5(USP8):c.659G>A (p.Ser220Asn)	USP8 (S220N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 978489	NM_005154.5(USP8):c.748A>C (p.Arg250=)	USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767306	NM_005154.5(USP8):c.762G>A (p.Glu254=)	USP8	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1372830	NM_005154.5(USP8):c.775C>A (p.Leu259Ile)	USP8 (L182I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2124926	NM_005154.5(USP8):c.802T>G (p.Leu268Val)	USP8 (L268V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 458317	NM_005154.5(USP8):c.802T>A (p.Leu268Ile)	USP8 (L268I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GBenign
Select item 2722597	NM_005154.5(USP8):c.808A>G (p.Ile270Val)	USP8 (I193V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 528040	NM_005154.5(USP8):c.823C>T (p.Arg275Trp)	USP8 (R275W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2833870	NM_005154.5(USP8):c.824G>A (p.Arg275Gln)	USP8 (R198Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 570786	NM_005154.5(USP8):c.865G>A (p.Val289Ile)	USP8 (V289I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 970553	NM_005154.5(USP8):c.886G>A (p.Val296Ile)	USP8 (V296I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 101078	NM_005154.5(USP8):c.928C>A (p.Gln310Lys)	USP8 (Q310K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031312	NM_005154.5(USP8):c.952_955dup (p.Pro319fs)	USP8 (P242fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2629055	NM_005154.5(USP8):c.964C>T (p.Arg322Ter)	USP8 (R245* +1 more)	Single nucleotide variant (nonsense)	USP8-related condition	GUncertain significance
Select item 2852438	NM_005154.5(USP8):c.965G>A (p.Arg322Gln)	USP8 (R245Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 754738	NM_005154.5(USP8):c.1015T>C (p.Leu339=)	USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979078	NM_005154.5(USP8):c.1022A>G (p.Glu341Gly)	USP8 (E341G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 458310	NM_005154.5(USP8):c.1042G>A (p.Ala348Thr)	USP8 (A348T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GBenign
Select item 1037976	NM_005154.5(USP8):c.1050G>T (p.Gln350His)	USP8 (Q273H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2420904	NM_005154.5(USP8):c.1052C>T (p.Thr351Met)	USP8 (T274M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GBenign
Select item 1099638	NM_005154.5(USP8):c.1053G>A (p.Thr351=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 458311	NM_005154.5(USP8):c.1084A>G (p.Ile362Val)	USP8 (I362V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1589026	NM_005154.5(USP8):c.1090T>C (p.Leu364=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1061098	NM_005154.5(USP8):c.1120C>A (p.Pro374Thr)	USP8 (P297T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 862796	NM_005154.5(USP8):c.1129A>G (p.Ile377Val)	USP8 (I377V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 3014454	NM_005154.5(USP8):c.1148C>A (p.Pro383Gln)	USP8 (P306Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 798137	NM_005154.5(USP8):c.1148C>T (p.Pro383Leu)	USP8 (P306L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2873608	NM_005154.5(USP8):c.1151T>A (p.Val384Asp)	USP8 (V307D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 528046	NM_005154.5(USP8):c.1162A>G (p.Lys388Glu)	USP8 (K388E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GBenign
Select item 2046621	NM_005154.5(USP8):c.1213C>T (p.Pro405Ser)	USP8 (P328S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2073631	NM_005154.5(USP8):c.1218+17A>T	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2718502	NM_005154.5(USP8):c.1219-20C>G	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 752415	NM_005154.5(USP8):c.1219-5T>C	USP8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166779	NM_005154.5(USP8):c.1296= (p.Gln432=)	USP8	Variation (no sequence alteration)	Hereditary spastic paraplegia	GBenign
Select item 528045	NM_005154.5(USP8):c.1296A>G (p.Gln432=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GBenign
Select item 2782243	NM_005154.5(USP8):c.1299A>G (p.Gln433=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1449402	NM_005154.5(USP8):c.1310G>A (p.Ser437Asn)	USP8 (S437N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 458312	NM_005154.5(USP8):c.1328A>G (p.Asp443Gly)	USP8 (D443G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GBenign
Select item 704010	NM_005154.5(USP8):c.1330C>T (p.Arg444Cys)	USP8 (R367C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1622760	NM_005154.5(USP8):c.1365C>T (p.Leu455=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1631360	NM_005154.5(USP8):c.1434A>G (p.Gln478=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 458313	NM_005154.5(USP8):c.1448G>A (p.Arg483Gln)	USP8 (R483Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 644754	NM_005154.5(USP8):c.1460A>G (p.Gln487Arg)	USP8 (Q487R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 705823	NM_005154.5(USP8):c.1464G>A (p.Glu488=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GBenign
Select item 702871	NM_005154.5(USP8):c.1516A>C (p.Lys506Gln)	USP8 (K429Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 652116	NM_005154.5(USP8):c.1531G>C (p.Glu511Gln)	USP8 (E434Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1385939	NM_005154.5(USP8):c.1540A>G (p.Ile514Val)	USP8 (I437V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2645328	NM_005154.5(USP8):c.1551G>A (p.Lys517=)	USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1387274	NM_005154.5(USP8):c.1553A>C (p.Gln518Pro)	USP8 (Q518P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2967428	NM_005154.5(USP8):c.1573A>T (p.Met525Leu)	USP8 (M525L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1425763	NM_005154.5(USP8):c.1597G>A (p.Ala533Thr)	USP8 (A456T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2733815	NM_005154.5(USP8):c.1620C>T (p.Thr540=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1490580	NM_005154.5(USP8):c.1674A>T (p.Glu558Asp)	USP8 (E481D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 704832	NM_005154.5(USP8):c.1675C>T (p.His559Tyr)	USP8 (H482Y +1 more)	Single nucleotide variant (missense variant)	USP8-related condition +1 more	GBenign/Likely benign
Select item 1617918	NM_005154.5(USP8):c.1692C>G (p.Ala564=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1483565	NM_005154.5(USP8):c.1726C>T (p.Pro576Ser)	USP8 (P499S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1569013	NM_005154.5(USP8):c.1773A>C (p.Thr591=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1377859	NM_005154.5(USP8):c.1775C>T (p.Ser592Phe)	USP8 (S515F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1154937	NM_005154.5(USP8):c.1840C>T (p.Leu614=)	USP8	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GLikely benign
Select item 458314	NM_005154.5(USP8):c.1857T>C (p.Phe619=)	USP8	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GBenign
Select item 2779577	NM_005154.5(USP8):c.1859G>A (p.Arg620Lys)	USP8 (R620K)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 702195	NM_005154.5(USP8):c.1872C>T (p.Asp624=)	USP8	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GLikely benign
Select item 2070545	NM_005154.5(USP8):c.1873G>A (p.Asp625Asn)	USP8 (D625N)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 2880015	NM_005154.5(USP8):c.1878C>T (p.Thr626=)	USP8	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GLikely benign
Select item 2051641	NM_005154.5(USP8):c.1891-17T>A	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2908979	NM_005154.5(USP8):c.1896A>G (p.Gln632=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 953796	NM_005154.5(USP8):c.1922G>A (p.Ser641Asn)	USP8 (S535N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance

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