"Revvity Omics, Revvity"[submitter] AND "ATRX"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439418	NM_000489.6(ATRX):c.7067C>T (p.Ala2356Val)	ATRX (A2318V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439413	NM_000489.6(ATRX):c.6511A>G (p.Met2171Val)	ATRX (M2133V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11744	NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)	ATRX (I2012T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2439419	NM_000489.6(ATRX):c.5742T>G (p.Asp1914Glu)	ATRX (D1876E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439415	NM_000489.6(ATRX):c.5326T>G (p.Phe1776Val)	ATRX (F1738V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439416	NM_000489.6(ATRX):c.4348G>C (p.Glu1450Gln)	ATRX (E1412Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674663	NM_000489.6(ATRX):c.4317+8T>C	ATRX	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439417	NM_000489.6(ATRX):c.4161A>C (p.Ser1387=)	ATRX	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 571021	NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)	ATRX (I1180V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 854057	NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)	ATRX (T1146N +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2439407	NM_000489.6(ATRX):c.3279G>T (p.Arg1093Ser)	ATRX (R1055S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439420	NM_000489.6(ATRX):c.3046A>G (p.Thr1016Ala)	ATRX (T1016A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1118648	NM_000489.6(ATRX):c.2907A>C (p.Leu969=)	ATRX	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1005131	NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)	ATRX (V901L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2439412	NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)	ATRX (K819N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688656	NM_000489.6(ATRX):c.2258A>G (p.Asp753Gly)	ATRX (D715G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434468	NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp)	ATRX (N702D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2439410	NM_000489.6(ATRX):c.1825C>T (p.Pro609Ser)	ATRX (P571S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 93131	NM_000489.6(ATRX):c.1522A>C (p.Asn508His)	ATRX (N508H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 585473	NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)	ATRX (E492K +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GUncertain significance
Select item 2436330	NM_000489.6(ATRX):c.1330C>T (p.Arg444Ter)	ATRX (R406* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2439411	NM_000489.6(ATRX):c.1309G>A (p.Ala437Thr)	ATRX (A399T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1119641	NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly)	ATRX (D383G +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2439414	NM_000489.6(ATRX):c.773A>G (p.Asp258Gly)	ATRX (D220G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439408	NM_000489.6(ATRX):c.17T>C (p.Met6Thr)	ATRX, LOC130068458 (M6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 25