Related gene-specific medical variations for Gene (Select 8239) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362691	NM_001039591.3(USP9X):c.3425A>G (p.Glu1142Gly)	USP9X (E1142G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 3362311	NM_001039591.3(USP9X):c.3869A>G (p.Glu1290Gly)	USP9X (E1290G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted	GUncertain significance
Select item 3362292	NM_001039591.3(USP9X):c.1928G>A (p.Arg643Lys)	USP9X (R643K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GLikely pathogenic
Select item 3361792	NM_001039591.3(USP9X):c.2251G>A (p.Glu751Lys)	USP9X (E751K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361602	NM_001039591.3(USP9X):c.6758CTC[1] (p.Pro2254del)	USP9X (P2254del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3360508	NM_001039591.3(USP9X):c.890A>C (p.Glu297Ala)	USP9X (E297A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360266	NM_001039591.3(USP9X):c.4535G>C (p.Cys1512Ser)	USP9X (C1512S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360015	NM_001039591.3(USP9X):c.5943TAT[1] (p.Ile1982del)	USP9X (I1982del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359825	NM_001039591.3(USP9X):c.4495A>G (p.Asn1499Asp)	USP9X (N1499D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359468	NM_001039591.3(USP9X):c.2627C>G (p.Pro876Arg)	USP9X (P876R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359305	NM_001039591.3(USP9X):c.5069T>G (p.Phe1690Cys)	USP9X (F1690C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253739	NM_001039591.3(USP9X):c.3061C>G (p.Leu1021Val)	USP9X (L1021V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted	GUncertain significance
Select item 3246397	NC_000023.10:g.(?_40982882)_(41091777_?)dup	USP9X	Duplication	not provided	GUncertain significance
Select item 3246386	NC_000023.10:g.(?_41082450)_(41084410_?)del	USP9X	Deletion	not provided	GPathogenic
Select item 3235897	NM_001039591.3(USP9X):c.1738_1741del (p.Phe580fs)	USP9X (F580fs)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 99 +1 more	GLikely pathogenic
Select item 2685741	GRCh37/hg19 Xp11.4(chrX:40854392-41073602)x2	USP9X	Copy number gain	not provided	GUncertain significance
Select item 2671928	NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)	USP9X (R759K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted +1 more	GUncertain significance
Select item 2664008	NM_001039591.3(USP9X):c.6310C>A (p.Leu2104Ile)	USP9X (L2104I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted	GUncertain significance
Select item 2584567	NM_001039591.3(USP9X):c.1081G>A (p.Val361Met)	USP9X (V361M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted	GUncertain significance
Select item 2582451	NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)	USP9X (C697R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GUncertain significance
Select item 2580932	NM_001039591.3(USP9X):c.5489C>G (p.Ala1830Gly)	USP9X (A1830G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 2580906	NM_001039591.3(USP9X):c.16C>T (p.Arg6Cys)	USP9X (R6C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 2573089	NM_001039591.3(USP9X):c.1309G>A (p.Ala437Thr)	USP9X (A437T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 2441650	NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)	USP9X (K1627N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted +1 more	GUncertain significance
Select item 2438503	NM_001039591.3(USP9X):c.1668A>G (p.Ile556Met)	USP9X (I556M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438502	NM_001039591.3(USP9X):c.17G>A (p.Arg6His)	USP9X (R6H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438501	NM_001039591.3(USP9X):c.6355C>T (p.Leu2119Phe)	USP9X (L2119F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438500	NM_001039591.3(USP9X):c.3529G>A (p.Gly1177Ser)	USP9X (G1177S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438499	NM_001039591.3(USP9X):c.2878-3C>T	USP9X	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438497	NM_001039591.3(USP9X):c.3844G>C (p.Glu1282Gln)	USP9X (E1282Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434503	NM_001039591.3(USP9X):c.2314_2318del (p.Asp772fs)	USP9X (D772fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2430056	NM_001039591.3(USP9X):c.6016A>G (p.Ser2006Gly)	USP9X (S2006G +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 1807651	GRCh37/hg19 Xp11.4(chrX:40988161-41096130)x3	USP9X	Copy number gain	not provided	GUncertain significance
Select item 1700139	NM_001039591.3(USP9X):c.430A>G (p.Ile144Val)	USP9X (I144V)	Single nucleotide variant (missense variant)	Neurodevelopmental delay	GUncertain significance
Select item 1527925	NM_001039590.2:c.3466_3879del	USP9X	Deletion	Intellectual disability, X-linked 99, syndromic, female-restricted	GLikely pathogenic
Select item 1341836	NM_001039591.3(USP9X):c.3386T>C (p.Met1129Thr)	USP9X (M1129T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted +1 more	GUncertain significance
Select item 1325338	NM_001039591.3(USP9X):c.3750_3751dup (p.Cys1251fs)	USP9X (C1251fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1176302	NM_001039591.3(USP9X):c.3144G>A (p.Pro1048=)	USP9X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174110	NM_001039591.3(USP9X):c.2594A>C (p.Asp865Ala)	USP9X (D865A)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 987272	NM_001039591.3(USP9X):c.6194del (p.Gly2065fs)	USP9X (G2065fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 986984	NM_001039591.3(USP9X):c.2147del (p.Asn716fs)	USP9X (N716fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 931478	NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=)	USP9X	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 931438	NM_001039591.3(USP9X):c.1282T>G (p.Leu428Val)	USP9X (L428V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 816342	GRCh37/hg19 Xp11.4(chrX:40854391-41080779)x3	USP9X	Copy number gain	not provided	GUncertain significance
Select item 548621	NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr)	USP9X (A1102T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted	GUncertain significance
Select item 445770	NM_001039591.3(USP9X):c.5395C>T (p.Arg1799Ter)	USP9X (R1799*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438307	NM_001039591.3(USP9X):c.5595del (p.Val1866fs)	USP9X (V1866fs)	Deletion (frameshift variant)	Dysmorphic features +1 more	GLikely pathogenic

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Links from Gene

Items: 47