"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701785	NM_002291.3(LAMB1):c.4363_4376del (p.Leu1455fs)	LAMB1 (L1455fs)	Deletion (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 2498207	GRCh38/hg38 7q31.1(chr7:107951205-107952243)x0	LAMB1	Copy number loss	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 1701786	NM_002291.3(LAMB1):c.1974_1975dup (p.Pro659fs)	LAMB1 (P659fs)	Duplication (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GLikely pathogenic
Select item 2506519	NM_002291.3(LAMB1):c.1526del (p.Pro509fs)	LAMB1 (P509fs)	Deletion (frameshift variant)	Cobblestone lissencephaly without muscular or ocular involvement	GPathogenic

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