"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930294	NM_000430.4(PAFAH1B1):c.569-9G>A	PAFAH1B1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931348	NM_000430.4(PAFAH1B1):c.661G>A (p.Val221Met)	PAFAH1B1 (V221M)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation +1 more	GConflicting classifications of pathogenicity
Select item 931583	NM_000430.4(PAFAH1B1):c.1142A>G (p.His381Arg)	PAFAH1B1 (H381R)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 523262	GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162)	ASPA, OR3A1 +16 more	Copy number loss	Lissencephaly	GPathogenic
Select item 523261	GRCh37/hg19 17p13.3(chr17:2339561-2826073)	RAP1GAP2, CLUH +2 more	Copy number loss	Global developmental delay +6 more	GPathogenic
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	MIR212, MIR22 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic

ClinVar