"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210499	NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)	ATRX (I2291V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 210498	NM_000489.6(ATRX):c.5787-24GTTT[4]	ATRX	Microsatellite (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 11724	NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)	ATRX (N1822S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +4 more	GBenign/Likely benign
Select item 193997	NM_000489.6(ATRX):c.4120+4A>C	ATRX	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 465048	NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)	ATRX (R907Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 93134	NM_000489.6(ATRX):c.2595C>G (p.His865Gln)	ATRX (H865Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 701550	NM_000489.6(ATRX):c.2001G>A (p.Pro667=)	ATRX	Single nucleotide variant (synonymous variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 93132	NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)	ATRX (Q545E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 696189	NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)	ATRX (I435V +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 210501	NM_000489.6(ATRX):c.846C>T (p.Ser282=)	ATRX	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3233402	NM_000489.6(ATRX):c.371-1201G>A	ATRX	Single nucleotide variant (intron variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1	GPathogenic