C0001807[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 932939	NM_006593.4(TBR1):c.553C>T (p.Gln185Ter)	TBR1 (Q185*)	Single nucleotide variant (nonsense)	Moderate global developmental delay +3 more	GLikely pathogenic
Select item 932941	NM_006593.4(TBR1):c.1105_1113del (p.Val369_Ala371del)	TBR1	Deletion (inframe_deletion)	Limb myoclonus +3 more	GLikely pathogenic
Select item 932942	NM_006593.4(TBR1):c.1635_1644dup (p.Ser549fs)	TBR1 (S549fs)	Duplication (frameshift variant)	Delayed fine motor development +4 more	GLikely pathogenic

Format

Sort by

Choose Destination