"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LAMA1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720589	NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign/Likely benign
Select item 779980	NM_005559.4(LAMA1):c.6066G>A (p.Ala2022=)	LAMA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 781353	NM_005559.4(LAMA1):c.5481A>G (p.Val1827=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign/Likely benign
Select item 750454	NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GLikely benign
Select item 718802	NM_005559.4(LAMA1):c.4554C>T (p.His1518=)	LAMA1	Single nucleotide variant (synonymous variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +1 more	GBenign/Likely benign
Select item 1361973	NM_005559.4(LAMA1):c.3679G>A (p.Gly1227Arg)	LAMA1 (G1227R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1365082	NM_005559.4(LAMA1):c.2323G>A (p.Gly775Ser)	LAMA1 (G775S)	Single nucleotide variant (missense variant)	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome +2 more	GUncertain significance
Select item 716493	NM_005559.4(LAMA1):c.1183C>T (p.Arg395Cys)	LAMA1 (R395C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign