"Revvity Omics, Revvity"[submitter] AND "USP9X"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2429453	NM_001039591.3(USP9X):c.90G>C (p.Gln30His)	USP9X (Q30H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 2434503	NM_001039591.3(USP9X):c.2314_2318del (p.Asp772fs)	USP9X (D772fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2438499	NM_001039591.3(USP9X):c.2878-3C>T	USP9X	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2438498	NM_001039591.3(USP9X):c.3175G>A (p.Ala1059Thr)	USP9X (A1059T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 1325338	NM_001039591.3(USP9X):c.3750_3751dup (p.Cys1251fs)	USP9X (C1251fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2138548	NM_001039591.3(USP9X):c.3803A>G (p.Tyr1268Cys)	USP9X (Y1273C +1 more)	Single nucleotide variant (missense 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 1925229	NM_001039591.3(USP9X):c.3946A>G (p.Ile1316Val)	USP9X (I1316V +1 more)	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 423784	NM_001039591.3(USP9X):c.7431+9dup	USP9X (A2481fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 99 +3 more	GUncertain significance