"Hadassah Hebrew University Medical Center"[submitter] AND "USP27X"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321965	NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter)	USP27X (Q36*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 2499537	NM_001145073.3(USP27X):c.226G>A (p.Gly76Ser)	USP27X (G76S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 2499536	NM_001145073.3(USP27X):c.394G>T (p.Glu132Ter)	USP27X (E132*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 105	GLikely pathogenic
Select item 2499533	NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)	USP27X (Y144C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 2499538	NM_001145073.3(USP27X):c.541A>G (p.Lys181Glu)	USP27X (K181E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 2499535	NM_001145073.3(USP27X):c.937T>G (p.Phe313Val)	USP27X (F313V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GLikely pathogenic
Select item 2499534	NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)	USP27X (A403fs)	Duplication (frameshift variant)	Intellectual disability, X-linked 105	GLikely pathogenic
Select item 2499532	NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)	USP27X (S404N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance