"Baylor Genetics"[submitter] AND "LAMB1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561154	NM_002291.3(LAMB1):c.5347A>G (p.Ser1783Gly)	LAMB1 (S1783G)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 1029434	NM_002291.3(LAMB1):c.4188G>C (p.Met1396Ile)	LAMB1 (M1396I)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 561153	NM_002291.3(LAMB1):c.4183G>A (p.Glu1395Lys)	LAMB1 (E1395K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 709400	NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr)	LAMB1 (I908T)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GConflicting classifications of pathogenicity
Select item 1029433	NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys)	LAMB1 (R801K)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 1029432	NM_002291.3(LAMB1):c.2092T>A (p.Tyr698Asn)	LAMB1 (Y698N)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2582325	NM_002291.3(LAMB1):c.1925G>A (p.Arg642Gln)	LAMB1 (R642Q)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement	GUncertain significance
Select item 2582481	NM_002291.3(LAMB1):c.1637G>A (p.Gly546Asp)	LAMB1 (G546D)	Single nucleotide variant (missense variant)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GUncertain significance
Select item 1427340	NM_002291.3(LAMB1):c.1189C>T (p.Arg397Ter)	LAMB1 (R397*)	Single nucleotide variant (nonsense)	Cobblestone lissencephaly without muscular or ocular involvement +1 more	GPathogenic