"ITMI"[submitter] AND "ATRX"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 133647	NM_000489.6(ATRX):c.5576A>G (p.Asn1859Ser)	ATRX (N1859S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133646	NM_000489.6(ATRX):c.5167delinsGAAGGC (p.Ile1723fs)	ATRX (I1685fs +1 more)	Indel (frameshift variant)	not specified	Gnot provided
Select item 133645	NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup)	ATRX	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 133652	NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile)	ATRX (N1214I +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign
Select item 133659	NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)	ATRX (V1181L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 93135	NM_000489.6(ATRX):c.2785= (p.Glu929=)	ATRX	Single nucleotide variant (no sequence alteration)	Inborn genetic diseases +4 more	GBenign
Select item 133658	NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)	ATRX (V921F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 133651	NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)	ATRX (I901V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 133650	NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro)	ATRX (T894P +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GBenign/Likely benign
Select item 133657	NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)	ATRX (E884K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 133649	NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)	ATRX (Q883R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
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 133660	NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)	ATRX (F847S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 133648	NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg)	ATRX (K838R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 133655	NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)	ATRX (P667L +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +3 more	GBenign/Likely benign
Select item 133654	NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)	ATRX (P609A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 133653	NM_000489.6(ATRX):c.1423C>G (p.His475Asp)	ATRX (H475D +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +2 more	GBenign
Select item 133656	NM_000489.6(ATRX):c.1169G>A (p.Arg390His)	ATRX (R390H +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GLikely benign
Select item 133644	NM_000489.6(ATRX):c.189G>A (p.Glu63=)	ATRX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 21