"NFU1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30700	NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)	NFU1 (G208C +2 more)	Single nucleotide variant (missense variant +1 more)	NFU1-related disorder +2 more	GPathogenic
Select item 3054903	NM_001002755.4(NFU1):c.546-5C>T	NFU1	Single nucleotide variant (intron variant)	NFU1-related disorder	GLikely benign
Select item 138515	NM_001002755.4(NFU1):c.411T>C (p.Ile137=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1 +2 more	GBenign
Select item 3020305	NM_001002755.4(NFU1):c.313A>C (p.Arg105=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	NFU1-related disorder +1 more	GLikely benign
Select item 3047119	NM_001002755.4(NFU1):c.312T>C (p.Phe104=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	NFU1-related disorder	GLikely benign
Select item 3030399	NM_001002755.4(NFU1):c.166+10C>T	NFU1	Single nucleotide variant (intron variant)	NFU1-related disorder	GLikely benign

ClinVar