"3billion"[submitter] AND "LAMA1"[gene] - ClinVar - NCBI

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

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030933	NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg)	LAMA1 (G1519R)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1032335	NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser)	LAMA1 (P1402S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GConflicting classifications of pathogenicity