"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430302	NM_003172.4(SURF1):c.614G>A (p.Gly205Glu)	SURF1 (G205E +1 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 444786	NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del)	SURF1	Deletion (5 prime UTR variant +1 more)	See cases +1 more	GLikely pathogenic
Select item 444787	NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)	SURF1 (L105fs)	Insertion (5 prime UTR variant +1 more)	See cases +3 more	GPathogenic/Likely pathogenic

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