"Institute of Human Genetics, University of Goettingen"[submitter] AND - 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 978812	NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu)	TUBA1A (V327L +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 977324	NM_006009.4(TUBA1A):c.545T>C (p.Val182Ala)	TUBA1A (V147A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GPathogenic