ClinVar for Gene (Select 9101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357086	NM_005154.5(USP8):c.673G>A (p.Ala225Thr)	USP8 (A148T +1 more)	Single nucleotide variant (missense variant)	USP8-related disorder	GUncertain significance
Select item 3243901	NC_000015.9:g.(?_50731271)_(51634264_?)dup	AP4E1, CYP19A1 +6 more	Duplication	not provided	GUncertain significance
Select item 3187742	NM_203494.5(USP50):c.1000G>C (p.Ala334Pro)	USP50, USP8 (A334P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026574	NM_005154.5(USP8):c.2835A>T (p.Thr945=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2989900	NM_005154.5(USP8):c.3038+22_3038+24del	USP50, USP8	Microsatellite (intron variant)	Hereditary spastic paraplegia	GLikely benign
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 2910296	NM_005154.5(USP8):c.104+5G>C	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
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 2892017	NM_005154.5(USP8):c.1947A>G (p.Pro649=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2881763	NM_005154.5(USP8):c.2746C>A (p.Gln916Lys)	USP50, USP8 (Q810K +1 more)	Single nucleotide variant (missense variant)	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 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 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 2852438	NM_005154.5(USP8):c.965G>A (p.Arg322Gln)	USP8 (R245Q +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 2832143	NM_005154.5(USP8):c.542-19T>C	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 2814692	NM_005154.5(USP8):c.3290A>T (p.Lys1097Ile)	USP50, USP8 (K991I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2797257	NM_005154.5(USP8):c.104+17G>A	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
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 2782243	NM_005154.5(USP8):c.1299A>G (p.Gln433=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
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 2733815	NM_005154.5(USP8):c.1620C>T (p.Thr540=)	USP8	Single nucleotide variant (synonymous 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 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 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 2720399	NM_005154.5(USP8):c.3079T>A (p.Ser1027Thr)	USP50, USP8 (S1027T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2718502	NM_005154.5(USP8):c.1219-20C>G	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
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 2685516	GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1	AP4E1, GABPB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684758	GRCh37/hg19 15q21.2(chr15:50749119-51455096)x3	AP4E1, SPPL2A +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684757	GRCh37/hg19 15q21.2(chr15:50595262-51210478)x3	AP4E1, GABPB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2645328	NM_005154.5(USP8):c.1551G>A (p.Lys517=)	USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629055	NM_005154.5(USP8):c.964C>T (p.Arg322Ter)	USP8 (R245* +1 more)	Single nucleotide variant (nonsense)	USP8-related disorder	GUncertain significance
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	DTWD1, AP4E1 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	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 2174526	NM_005154.5(USP8):c.1972-20T>G	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2173524	NM_005154.5(USP8):c.2235-20G>T	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2148913	NM_005154.5(USP8):c.3119A>G (p.Tyr1040Cys)	USP8, USP50 (Y1040C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2148678	NM_005154.5(USP8):c.3018G>A (p.Val1006=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 2146863	NM_005154.5(USP8):c.3335G>A (p.Arg1112Gln)	USP50, USP8 (R1006Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2133028	NM_005154.5(USP8):c.2983C>G (p.Leu995Val)	USP50, USP8 (L889V +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 2073631	NM_005154.5(USP8):c.1218+17A>T	USP8	Single nucleotide variant (intron variant)	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 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 2059829	NM_005154.5(USP8):c.499-13T>C	USP8	Single nucleotide variant (intron variant)	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 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 2031312	NM_005154.5(USP8):c.952_955dup (p.Pro319fs)	USP8 (P242fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 2016045	NM_005154.5(USP8):c.2519G>A (p.Gly840Glu)	USP50, USP8 (G734E +1 more)	Single nucleotide variant (missense variant)	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 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 1962026	NM_005154.5(USP8):c.3326T>C (p.Leu1109Ser)	USP50, USP8 (L1003S +1 more)	Single nucleotide variant (missense variant)	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 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 1809407	GRCh37/hg19 15q21.2(chr15:50705605-50770917)x1	USP8	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1703610	GRCh37/hg19 15q21.2(chr15:50550911-50902848)	GABPB1, HDC +3 more	Copy number loss	Neurodevelopmental delay	GUncertain significance
Select item 1647445	NM_005154.5(USP8):c.2292C>A (p.Asn764Lys)	USP8 (N658K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 1637146	NM_005154.5(USP8):c.3180C>T (p.Tyr1060=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1635362	NM_005154.5(USP8):c.2121T>C (p.Asp707=)	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 1629850	NM_005154.5(USP8):c.250-15T>C	USP8	Single nucleotide variant (intron 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 1617918	NM_005154.5(USP8):c.1692C>G (p.Ala564=)	USP8	Single nucleotide variant (synonymous 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 1601681	NM_005154.5(USP8):c.3172-16_3172-13dup	USP50, USP8	Duplication (intron variant)	Hereditary spastic paraplegia	GBenign
Select item 1600612	NM_005154.5(USP8):c.104+16C>T	USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 1600436	NM_005154.5(USP8):c.2287C>T (p.Arg763Trp)	USP8 (R657W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 1600284	NM_005154.5(USP8):c.3038+16T>G	USP50, USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 1592472	NM_005154.5(USP8):c.2523G>A (p.Gln841=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1589684	NM_005154.5(USP8):c.2532T>C (p.Tyr844=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
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 1569013	NM_005154.5(USP8):c.1773A>C (p.Thr591=)	USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1526455	GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)	AP4E1, ATP8B4 +16 more	Copy number loss	not specified	GUncertain significance
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1517217	NM_005154.5(USP8):c.2624T>C (p.Phe875Ser)	USP50, USP8 (F769S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
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 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 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 1480455	NM_005154.5(USP8):c.1925A>C (p.Glu642Ala)	USP8 (E642A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
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 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 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 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 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 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 1379085	NM_005154.5(USP8):c.2108C>A (p.Pro703His)	USP8 (P597H +1 more)	Single nucleotide variant (missense variant)	Pituitary dependent hypercortisolism +1 more	GUncertain significance
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 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 1368906	NM_005154.5(USP8):c.2972G>A (p.Arg991Gln)	USP50, USP8 (R991Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1340044	GRCh37/hg19 15q21.2(chr15:50733977-51138579)x3	SPPL2A, TRPM7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1295795	NM_005154.5(USP8):c.-58G>C	USP8	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1170349	NM_005154.5(USP8):c.2215A>G (p.Thr739Ala)	USP8 (T633A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1166779	NM_005154.5(USP8):c.1296= (p.Gln432=)	USP8	Variation (no sequence alteration)	Hereditary spastic paraplegia +1 more	GBenign

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