ClinVar for MedGen (Select 1805816) - ClinVar - NCBI

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

Links from MedGen

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065611	NM_001353694.2(TIAM1):c.2357C>T (p.Thr786Ile)	TIAM1 (T761I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GUncertain significance
Select item 2574495	NM_001353694.2(TIAM1):c.2593G>A (p.Val865Met)	TIAM1 (V840M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures +1 more	GUncertain significance
Select item 1693483	NM_001353694.2(TIAM1):c.4016C>T (p.Ala1339Val)	TIAM1 (A1314V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GPathogenic
Select item 1693482	NM_001353694.2(TIAM1):c.1144G>C (p.Gly382Arg)	TIAM1	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GPathogenic
Select item 1693481	NM_001353694.2(TIAM1):c.4640C>A (p.Ala1547Glu)	TIAM1 (A1522E +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GPathogenic
Select item 1693480	NM_001353694.2(TIAM1):c.983G>T (p.Gly328Val)	TIAM1	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GPathogenic
Select item 1526338	NM_001353694.2(TIAM1):c.67C>T (p.Arg23Cys)	TIAM1 (R23C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526309	NM_001353694.2(TIAM1):c.2584C>T (p.Leu862Phe)	TIAM1 (L837F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance