C5435656[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449804	NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val)	FASTKD2 (D398V)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 12770	NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	SURF1 (S282fs +1 more)	Microsatellite (frameshift variant)	Dysarthria +10 more	GPathogenic
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 373217	NM_003172.4(SURF1):c.751+5G>A	SURF1	Single nucleotide variant (intron variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1182215	NM_003172.4(SURF1):c.367_368del (p.Arg123fs)	SURF1 (R123fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4K +3 more	GPathogenic
Select item 215232	NM_003172.4(SURF1):c.324-11T>G	SURF1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030024	NM_001370595.2(COA8):c.-10dup	COA8	Duplication (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Cerebral palsy +12 more	GPathogenic/Likely pathogenic

ClinVar