C4749301[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8081	NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)	PAFAH1B1 (R8*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 982585	NM_000430.4(PAFAH1B1):c.140A>G (p.Tyr47Cys)	PAFAH1B1 (Y47C)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GUncertain significance
Select item 2502363	NM_000430.4(PAFAH1B1):c.144dup (p.Gly49fs)	PAFAH1B1 (G49fs)	Duplication (frameshift variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 21181	NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)	PAFAH1B1 (W55fs)	Duplication (frameshift variant)	not specified +3 more	GPathogenic
Select item 280047	NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter)	PAFAH1B1 (R113*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 8074	NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)	PAFAH1B1 (R273*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 982584	NM_000430.4(PAFAH1B1):c.1087C>T (p.Arg363Cys)	PAFAH1B1 (R363C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar