C1845055[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

Format

Sort by

Choose Destination

	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)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1172655	NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)	ATRX (Y1809C +1 more)	Single nucleotide variant (missense variant)	Neonatal hypotonia +1 more	GLikely pathogenic
Select item 11742	NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)	ATRX (R37*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination

ClinVar