"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1508922	NM_014165.4(NDUFAF4):c.88G>T (p.Ala30Ser)	LOC129996857, NDUFAF4 (A30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011936	NM_014165.4(NDUFAF4):c.64A>G (p.Ile22Val)	LOC129996857, NDUFAF4 (I22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184290	NM_014165.4(NDUFAF4):c.62A>T (p.Glu21Val)	LOC129996857, NDUFAF4 (E21V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1461290	NM_014165.4(NDUFAF4):c.59G>A (p.Arg20Gln)	LOC129996857, NDUFAF4 (R20Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1978068	NM_014165.4(NDUFAF4):c.51A>C (p.Arg17=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 376856	NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile)	LOC129996857, NDUFAF4 (L14I)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 15 +1 more	GBenign/Likely benign
Select item 1945257	NM_014165.4(NDUFAF4):c.27C>A (p.Ile9=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969958	NM_014165.4(NDUFAF4):c.12A>G (p.Leu4=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974466	NM_014165.4(NDUFAF4):c.9A>G (p.Ala3=)	LOC129996857, NDUFAF4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign