ClinVar for MedGen (Select 813076) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236008	NM_001039591.3(USP9X):c.1679G>A (p.Arg560His)	USP9X (R560H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
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 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 2584357	NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)	USP9X (C1733Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GLikely pathogenic
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 2581041	NM_001039591.3(USP9X):c.38A>G (p.Asn13Ser)	USP9X (N13S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	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 2580912	NM_031407.7(HUWE1):c.484C>G (p.Arg162Gly)	HUWE1 (R162G +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 2575230	NM_001039591.3(USP9X):c.802_803del (p.Leu268fs)	USP9X (L268fs)	Microsatellite (frameshift 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 2571868	NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)	USP9X (S878L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499604	NM_001039591.3(USP9X):c.4973G>A (p.Arg1658Gln)	USP9X (R1658Q +1 more)	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 2431828	NM_001039591.3(USP9X):c.1541T>C (p.Leu514Pro)	USP9X (L514P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1810562	NM_001039591.3(USP9X):c.5842G>A (p.Ala1948Thr)	USP9X (A1948T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1804703	NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)	USP9X (Y1881del +1 more)	Microsatellite (inframe_deletion +1 more)	Intellectual disability, X-linked 99	GLikely pathogenic
Select item 1710058	NM_001039591.3(USP9X):c.2754T>G (p.Cys918Trp)	USP9X (C918W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1708116	NM_001039591.3(USP9X):c.4060A>T (p.Ile1354Phe)	USP9X (I1354F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GLikely benign
Select item 1708082	NM_001039591.3(USP9X):c.2969A>G (p.His990Arg)	USP9X (H990R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted +1 more	GUncertain significance
Select item 1703761	NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)	USP9X (A504V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GLikely pathogenic
Select item 1699125	NM_001039591.3(USP9X):c.7663T>C (p.Ter2555Arg)	USP9X	Single nucleotide variant (stop lost)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1685472	NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val)	USP9X (A1302V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GLikely pathogenic
Select item 1578551	NM_001039591.3(USP9X):c.3558+16T>C	USP9X	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 99, syndromic, female-restricted +2 more	GBenign
Select item 1506831	NM_001039591.3(USP9X):c.3955T>G (p.Leu1319Val)	USP9X (L1319V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1342022	NM_001039591.3(USP9X):c.7461A>C (p.Glu2487Asp)	USP9X (E2487D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
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 1333756	NM_001039591.3(USP9X):c.7431+243G>A	USP9X	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1331725	NM_001039591.3(USP9X):c.6254G>A (p.Arg2085His)	USP9X (R2085H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GPathogenic/Likely pathogenic
Select item 1321280	NM_001039591.3(USP9X):c.5190G>T (p.Arg1730Ser)	USP9X (R1730S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1307353	NM_001039591.3(USP9X):c.904G>A (p.Ala302Thr)	USP9X (A302T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GUncertain significance
Select item 1301879	NM_001039591.3(USP9X):c.3559-1G>C	USP9X	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 99	GLikely pathogenic
Select item 1205264	NM_001039591.3(USP9X):c.172C>T (p.Pro58Ser)	USP9X (P58S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050115	NM_001039591.3(USP9X):c.3382A>T (p.Ser1128Cys)	USP9X (S1128C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GUncertain significance
Select item 1034402	NM_001039591.3(USP9X):c.2026C>T (p.Gln676Ter)	USP9X (Q676*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 99	GPathogenic
Select item 1034401	NM_001039591.3(USP9X):c.1986-5dup	USP9X	Duplication (intron variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1028979	NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr)	USP9X (K329T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GUncertain significance
Select item 1028978	NM_001039591.3(USP9X):c.7366T>C (p.Phe2456Leu)	USP9X (F2456L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GUncertain significance
Select item 1028977	NM_001039591.3(USP9X):c.6359T>C (p.Ile2120Thr)	USP9X (I2120T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1028976	NM_001039591.3(USP9X):c.4829A>G (p.Asn1610Ser)	USP9X (N1610S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1028975	NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp)	USP9X (A963D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1028481	NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr)	USP9X (I567T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1028480	NM_001039591.3(USP9X):c.131C>T (p.Pro44Leu)	USP9X (P44L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 1013601	NM_001039591.3(USP9X):c.3797A>C (p.Lys1266Thr)	USP9X (K1266T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 988733	NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu)	USP9X (P1137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982847	NM_001039591.3(USP9X):c.2638G>A (p.Ala880Thr)	USP9X (A880T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 973055	NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His)	USP9X (D1891H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 816935	NM_001039591.3(USP9X):c.260del (p.Pro87fs)	USP9X (P87fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 99	GPathogenic
Select item 709172	NM_001039591.3(USP9X):c.3028-7A>G	USP9X	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 620023	NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)	USP9X (L224P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99 +1 more	GLikely pathogenic
Select item 592151	NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys)	USP9X (F888C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GUncertain significance
Select item 562221	NM_001039591.3(USP9X):c.1877G>A (p.Ser626Asn)	USP9X (S626N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 548018	NM_001039591.3(USP9X):c.4469C>T (p.Pro1490Leu)	USP9X (P1490L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 520886	NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser)	USP9X (N1388S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 423784	NM_001039591.3(USP9X):c.7431+9dup	USP9X (A2481fs)	Duplication (frameshift variant +1 more)	USP9X-related disorder +3 more	GUncertain significance
Select item 384654	NM_001039591.3(USP9X):c.1315-4A>G	USP9X	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 99, syndromic, female-restricted +2 more	GPathogenic/Likely pathogenic
Select item 127091	NM_001039591.3(USP9X):c.7526del (p.Gln2509fs)	USP9X (Q2525fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 99	GPathogenic
Select item 127090	NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His)	USP9X (L2093H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GPathogenic
Select item 14017	NM_006179.5(NTF4):c.263C>T (p.Ala88Val)	NTF4 (A88V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99	GLikely benign

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Links from MedGen

Items: 61