USP48[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 3353265	NM_032236.8(USP48):c.3022A>G (p.Ile1008Val)	USP48 (I1006V +4 more)	Single nucleotide variant (missense variant)	USP48-related condition	GUncertain significance
Select item 3187723	NM_032236.8(USP48):c.2980G>A (p.Val994Ile)	USP48 (V927I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331607	NM_032236.8(USP48):c.2845G>A (p.Val949Ile)	USP48 (V948I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331242	NM_032236.8(USP48):c.2746C>T (p.Arg916Trp)	USP48 (R915W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298151	NM_032236.8(USP48):c.2642C>T (p.Pro881Leu)	USP48 (P814L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769236	NM_032236.8(USP48):c.2516-10T>C	USP48	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3187722	NM_032236.8(USP48):c.2459C>T (p.Thr820Met)	USP48 (T753M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320365	NM_032236.8(USP48):c.2455A>G (p.Ile819Val)	USP48 (I817V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354857	NM_032236.8(USP48):c.2385-7dup	USP48	Duplication (intron variant)	USP48-related condition	GLikely benign
Select item 2280413	NM_032236.8(USP48):c.2222T>C (p.Val741Ala)	USP48 (V674A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457420	NM_032236.8(USP48):c.2216C>T (p.Thr739Met)	USP48 (T739M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443813	NM_032236.8(USP48):c.2215_2216delinsTT (p.Thr739Leu)	USP48 (T672L +2 more)	Indel (missense variant)	Hearing loss, autosomal dominant 85	GPathogenic
Select item 2465201	NM_032236.8(USP48):c.2215A>T (p.Thr739Ser)	USP48 (T672S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672327	NM_032236.8(USP48):c.1962T>C (p.His654=)	USP48	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2217917	NM_032236.8(USP48):c.1900T>A (p.Ser634Thr)	USP48 (S632T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187721	NM_032236.8(USP48):c.1802G>T (p.Ser601Ile)	USP48 (S534I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487066	NM_032236.8(USP48):c.1796T>C (p.Leu599Ser)	USP48 (L599S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221188	NM_032236.8(USP48):c.1697G>A (p.Arg566His)	USP48 (R565H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295648	NM_032236.8(USP48):c.1692A>G (p.Ile564Met)	USP48 (I564M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518833	NM_032236.8(USP48):c.1660T>G (p.Cys554Gly)	USP48 (C487G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187720	NM_032236.8(USP48):c.1612T>C (p.Phe538Leu)	USP48 (F537L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568539	NM_032236.8(USP48):c.1606G>A (p.Asp536Asn)	USP48 (D535N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291846	NM_032236.8(USP48):c.1573T>C (p.Ser525Pro)	USP48 (S524P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 560300	NM_032236.8(USP48):c.1562C>T (p.Pro521Leu)	USP48 (P521L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3187718	NM_032236.8(USP48):c.1549G>A (p.Asp517Asn)	USP48 (D516N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232405	NM_032236.8(USP48):c.1544C>G (p.Ser515Cys)	USP48 (S514C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280652	NM_032236.8(USP48):c.1511C>A (p.Thr504Asn)	USP48 (T503N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331602	NM_032236.8(USP48):c.1345G>C (p.Glu449Gln)	USP48 (E448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331603	NM_032236.8(USP48):c.1277C>T (p.Pro426Leu)	USP48 (P426L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638450	NM_032236.8(USP48):c.1254T>C (p.Tyr418=)	USP48	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161781	NM_032236.8(USP48):c.1243A>G (p.Met415Val)	USP48 (M415V +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2443812	NM_032236.8(USP48):c.1216G>A (p.Gly406Arg)	USP48 (G405R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 85	GPathogenic
Select item 3187717	NM_032236.8(USP48):c.1007A>G (p.Tyr336Cys)	USP48 (Y336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498214	NM_032236.8(USP48):c.982G>A (p.Glu328Lys)	USP48 (E328K)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 85	GUncertain significance
Select item 3331606	NM_032236.8(USP48):c.845A>G (p.Lys282Arg)	USP48 (K282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229146	NM_032236.8(USP48):c.799C>T (p.Arg267Cys)	USP48 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279186	NM_032236.8(USP48):c.743A>G (p.Gln248Arg)	USP48 (Q248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187724	NM_032236.8(USP48):c.673C>G (p.Gln225Glu)	USP48 (Q225E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469714	NM_032236.8(USP48):c.671A>G (p.Asn224Ser)	USP48 (N224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354265	NM_032236.8(USP48):c.611A>G (p.Asp204Gly)	USP48 (D204G)	Single nucleotide variant (missense variant)	USP48-related condition	GUncertain significance
Select item 3331601	NM_032236.8(USP48):c.358T>G (p.Cys120Gly)	USP48 (C120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331605	NM_032236.8(USP48):c.223A>G (p.Ile75Val)	USP48 (I75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638451	NM_032236.8(USP48):c.210T>C (p.Asn70=)	USP48	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3331604	NM_032236.8(USP48):c.208A>G (p.Asn70Asp)	USP48 (N70D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352429	NM_032236.8(USP48):c.135-9dup	USP48	Duplication (intron variant)	USP48-related condition	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063455	GRCh37/hg19 1p36.12(chr1:21722949-22021145)x3	ALPL, NBPF3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 60