ClinVar for Gene (Select 373509) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3389117	NM_005154.5(USP8):c.2861T>C (p.Leu954Pro)	USP50, USP8 (L848P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3331617	NM_203494.5(USP50):c.337T>G (p.Trp113Gly)	USP50 (W113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331616	NM_203494.5(USP50):c.371C>T (p.Thr124Met)	USP50 (T124M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3243901	NC_000015.9:g.(?_50731271)_(51634264_?)dup	AP4E1, CYP19A1 +6 more	Duplication	not provided	GUncertain significance
Select item 3187747	NM_203494.5(USP50):c.691G>A (p.Ala231Thr)	USP50 (A231T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3187746	NM_203494.5(USP50):c.604G>A (p.Glu202Lys)	USP50 (E202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187745	NM_203494.5(USP50):c.458G>A (p.Arg153Gln)	USP50 (R153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187744	NM_203494.5(USP50):c.457C>T (p.Arg153Trp)	USP50 (R153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187743	NM_203494.5(USP50):c.365C>A (p.Ala122Glu)	USP50 (A122E)	Single nucleotide variant (missense variant)	not specified	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=)	USP8, USP50	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989900	NM_005154.5(USP8):c.3038+22_3038+24del	USP50, USP8	Microsatellite (intron 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 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 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 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 2614653	NM_203494.5(USP50):c.691G>T (p.Ala231Ser)	USP50 (A231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594972	NM_203494.5(USP50):c.568G>A (p.Val190Ile)	USP50 (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594331	NM_203494.5(USP50):c.824C>T (p.Thr275Ile)	USP50 (T275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590844	NM_203494.5(USP50):c.602A>T (p.Asn201Ile)	USP50 (N201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578751	GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1	DTWD1, FAM227B +10 more	Copy number loss	not provided	GUncertain significance
Select item 2552679	NM_203494.5(USP50):c.370A>C (p.Thr124Pro)	USP50 (T124P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539017	NM_203494.5(USP50):c.236C>G (p.Thr79Ser)	USP50 (T79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530999	NM_203494.5(USP50):c.365C>T (p.Ala122Val)	USP50 (A122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455934	NM_203494.5(USP50):c.274T>G (p.Phe92Val)	USP50 (F92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	AP4E1, ARPP19 +21 more	Duplication	not provided	GUncertain significance
Select item 2396371	NM_203494.5(USP50):c.842C>T (p.Thr281Met)	USP50 (T281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377395	NM_203494.5(USP50):c.493T>G (p.Cys165Gly)	USP50 (C165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367265	NM_203494.5(USP50):c.556A>C (p.Asn186His)	USP50 (N186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344574	NM_203494.5(USP50):c.333A>G (p.Ile111Met)	USP50 (I111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319440	NM_203494.5(USP50):c.844G>A (p.Asp282Asn)	USP50 (D282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264206	NM_203494.5(USP50):c.781A>G (p.Ile261Val)	USP50 (I261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 1637146	NM_005154.5(USP8):c.3180C>T (p.Tyr1060=)	USP8, USP50	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GLikely benign
Select item 1601681	NM_005154.5(USP8):c.3172-16_3172-13dup	USP50, USP8	Duplication (intron variant)	Hereditary spastic paraplegia	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 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 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 1044045	NM_005154.5(USP8):c.3292T>G (p.Ser1098Ala)	USP50, USP8 (S992A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 943330	NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter)	USP50, USP8 (R1112* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 938030	NM_005154.5(USP8):c.2842G>C (p.Ala948Pro)	USP50, USP8 (A842P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 915336	NM_005154.5(USP8):c.2971C>T (p.Arg991Ter)	USP50, USP8 (R885* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 815710	GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1	ATP8B4, CEP152 +20 more	Copy number loss	not provided	GPathogenic
Select item 782591	NM_203494.5(USP50):c.186C>G (p.Leu62=)	USP50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778552	NM_203494.5(USP50):c.366A>G (p.Ala122=)	USP50	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778551	NM_203494.5(USP50):c.915dup (p.Tyr306fs)	USP50 (Y306fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 769881	NM_203494.5(USP50):c.962G>C (p.Gly321Ala)	USP50, USP8 (G321A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 741872	NM_005154.5(USP8):c.2754T>C (p.Asn918=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729257	NM_005154.5(USP8):c.2634T>C (p.Asp878=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717307	NM_005154.5(USP8):c.3105T>G (p.Leu1035=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706806	NM_005154.5(USP8):c.2895+3_2895+7dup	USP50, USP8	Duplication (splice donor variant)	not provided	GLikely benign
Select item 704486	NM_005154.5(USP8):c.2896-9T>C	USP50, USP8	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 687424	GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1	AP4E1, ARPP19 +24 more	Copy number loss	not provided	GUncertain significance
Select item 686062	GRCh37/hg19 15q21.2(chr15:50727191-51138573)x3	SPPL2A, TRPM7 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 584095	NC_000015.9:g.(?_50789266)_(50791305_?)dup	USP8, USP50	Duplication	Hereditary spastic paraplegia	GUncertain significance
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 528044	NM_005154.5(USP8):c.2511G>A (p.Leu837=)	USP50, USP8	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 458316	NM_005154.5(USP8):c.3033G>A (p.Leu1011=)	USP50, USP8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 458315	NM_005154.5(USP8):c.2658+5_2658+8dup	USP50, USP8	Duplication (intron variant)	Hereditary spastic paraplegia	GLikely benign
Select item 443426	GRCh37/hg19 15q21.2(chr15:50718893-51246087)x3	AP4E1, SPPL2A +3 more	Copy number gain	See cases	GLikely benign
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441073	NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala)	USP50, USP8 (P1044A +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395178	GRCh37/hg19 15q21.2(chr15:50821997-51000060)x3	SPPL2A, TRPM7 +1 more	Copy number gain	See cases	GBenign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 90