"PreventionGenetics, part of Exact Sciences"[submitter] AND "USP9X"[ge - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1254438	NM_001039591.3(USP9X):c.82dup (p.Leu28fs)	USP9X (L28fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2203467	NM_001039591.3(USP9X):c.783A>G (p.Gln261=)	USP9X	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2635262	NM_001039591.3(USP9X):c.852G>C (p.Gln284His)	USP9X (Q284H)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 2956414	NM_001039591.3(USP9X):c.933T>C (p.Ile311=)	USP9X	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636533	NM_001039591.3(USP9X):c.2415A>G (p.Gln805=)	USP9X	Single nucleotide variant (synonymous variant)	USP9X-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1704943	NM_001039591.3(USP9X):c.2644C>T (p.Arg882Cys)	USP9X (R882C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3038254	NM_001039591.3(USP9X):c.2888C>T (p.Ala963Val)	USP9X (A963V +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 1239101	NM_001039591.3(USP9X):c.2996A>G (p.Asn999Ser)	USP9X (N999S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3049872	NM_001039591.3(USP9X):c.3624A>G (p.Pro1208=)	USP9X	Single nucleotide variant (synonymous variant)	USP9X-related disorder	GLikely benign
Select item 2632692	NM_001039591.3(USP9X):c.3673A>G (p.Ile1225Val)	USP9X (I1225V +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 3032214	NM_001039591.3(USP9X):c.3824A>G (p.Asn1275Ser)	USP9X (N1275S +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 742558	NM_001039591.3(USP9X):c.4155C>T (p.Tyr1385=)	USP9X	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 3057566	NM_001039591.3(USP9X):c.4194T>A (p.Val1398=)	USP9X	Single nucleotide variant (synonymous variant)	USP9X-related disorder	GLikely benign
Select item 2660329	NM_001039591.3(USP9X):c.4275G>A (p.Thr1425=)	USP9X	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3029460	NM_001039591.3(USP9X):c.4316C>T (p.Ala1439Val)	USP9X (A1439V +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 3035303	NM_001039591.3(USP9X):c.4399A>G (p.Ile1467Val)	USP9X (I1467V +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 2637098	NM_001039591.3(USP9X):c.4657C>T (p.Pro1553Ser)	USP9X (P1553S +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 3049887	NM_001039591.3(USP9X):c.5304A>C (p.Ala1768=)	USP9X	Single nucleotide variant (synonymous variant)	USP9X-related disorder	GLikely benign
Select item 1905910	NM_001039591.3(USP9X):c.5542C>G (p.Gln1848Glu)	USP9X (Q1848E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2628940	NM_001039591.3(USP9X):c.5669G>A (p.Gly1890Glu)	USP9X (G1890E +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 712878	NM_001039591.3(USP9X):c.5718A>G (p.Thr1906=)	USP9X	Single nucleotide variant (synonymous variant)	USP9X-related disorder +1 more	GBenign
Select item 599442	NM_001039591.3(USP9X):c.5920A>G (p.Ile1974Val)	USP9X (I1974V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1225748	NM_001039591.3(USP9X):c.5924C>G (p.Thr1975Ser)	USP9X (T1975S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2980878	NM_001039591.3(USP9X):c.6138A>G (p.Gln2046=)	USP9X	Single nucleotide variant (synonymous variant)	USP9X-related disorder +1 more	GLikely benign
Select item 2632982	NM_001039591.3(USP9X):c.6183AGT[1] (p.Val2063del)	USP9X (V2063del +1 more)	Microsatellite (inframe_deletion)	USP9X-related disorder	GLikely pathogenic
Select item 2631743	NM_001039591.3(USP9X):c.6303C>A (p.Ser2101=)	USP9X	Single nucleotide variant (synonymous variant)	USP9X-related disorder	GUncertain significance
Select item 2636275	NM_001039591.3(USP9X):c.6755A>G (p.Asn2252Ser)	USP9X (N2252S +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 2629095	NM_001039591.3(USP9X):c.6827C>G (p.Ala2276Gly)	USP9X (A2276G +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 2291862	NM_001039591.3(USP9X):c.6884A>G (p.Asn2295Ser)	USP9X (N2295S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 745622	NM_001039591.3(USP9X):c.7218+6G>C	USP9X	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2630265	NM_001039591.3(USP9X):c.7403C>G (p.Ala2468Gly)	USP9X (A2468G +1 more)	Single nucleotide variant (missense variant)	USP9X-related disorder	GUncertain significance
Select item 423784	NM_001039591.3(USP9X):c.7431+9dup	USP9X (A2481fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 99 +3 more	GUncertain significance

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Items: 33