"Baylor Genetics"[submitter] AND "USP9X"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1028482	NM_001039591.3(USP9X):c.1782C>G (p.Pro594=)	USP9X	Single nucleotide variant (synonymous variant)	Intellectual disability, X-linked 99, syndromic, female-restricted	GUncertain significance
Select item 1034401	NM_001039591.3(USP9X):c.1986-5dup	USP9X	Duplication (intron variant)	Intellectual disability, X-linked 99	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 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 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 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 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 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 1810562	NM_001039591.3(USP9X):c.5842G>A (p.Ala1948Thr)	USP9X (A1948T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 99, syndromic, female-restricted +2 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 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 423784	NM_001039591.3(USP9X):c.7431+9dup	USP9X (A2481fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 99 +3 more	GUncertain significance