"GeneDx"[submitter] AND "LOC130062145"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1194245	NC_000018.10:g.9102457G>A	LOC130062145, NDUFV2	Single nucleotide variant	not provided	GLikely benign
Select item 1229924	NC_000018.10:g.9102511T>C	LOC130062145, NDUFV2	Single nucleotide variant	not provided	GBenign
Select item 1296284	NC_000018.10:g.9102564G>A	LOC130062145, NDUFV2	Single nucleotide variant	not provided	GBenign
Select item 327875	NM_021074.5(NDUFV2):c.-30G>T	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380625	NM_021074.5(NDUFV2):c.-13A>G	NDUFV2, LOC130062145	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 378263	NM_021074.5(NDUFV2):c.-5C>A	LOC130062145, NDUFV2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 1209343	NM_021074.5(NDUFV2):c.8T>C (p.Phe3Ser)	LOC130062145, NDUFV2 (F3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 327876	NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly)	LOC130062145, NDUFV2 (A6G)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2663557	NM_021074.5(NDUFV2):c.28C>T (p.Arg10Trp)	LOC130062145, NDUFV2 (R10W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance