C4759781[trait identifier] AND "New York Genome Center"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499933	NM_000489.6(ATRX):c.7201-4A>G	ATRX	Single nucleotide variant (intron variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1696484	NM_000489.6(ATRX):c.7066G>A (p.Ala2356Thr)	ATRX (A2318T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GUncertain significance
Select item 1701648	NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val)	ATRX (G1330V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GUncertain significance
Select item 1342508	NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr)	ATRX (S1113T +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 952292	NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)	ATRX (K1057N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1679750	NM_000489.6(ATRX):c.1808C>T (p.Ala603Val)	ATRX (A565V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 +1 more	GUncertain significance
Select item 1098671	NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu)	ATRX (K456E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance