"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "SURF1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585590	NM_003172.4(SURF1):c.812A>G (p.His271Arg)	SURF1 (H271R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 218303	NM_003172.4(SURF1):c.799_800del (p.Leu267fs)	SURF1 (L158fs +1 more)	Microsatellite (frameshift variant)	Leigh syndrome +1 more	GPathogenic/Likely pathogenic
Select item 215238	NM_003172.4(SURF1):c.792_793del (p.Arg264fs)	SURF1 (R155fs +1 more)	Microsatellite (frameshift variant)	Leigh syndrome +4 more	GPathogenic
Select item 372717	NM_003172.4(SURF1):c.758_759del (p.Thr253fs)	SURF1 (T253fs +1 more)	Microsatellite (frameshift variant)	Leigh syndrome +3 more	GPathogenic
Select item 365526	NM_003172.4(SURF1):c.754_755del	SURF1	Microsatellite (splice acceptor variant)	Leigh syndrome +1 more	GPathogenic/Likely pathogenic
Select item 372719	NM_003172.4(SURF1):c.532_535del (p.Asn178fs)	SURF1 (N69fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4K +2 more	GPathogenic

ClinVar