"GeneDx"[submitter] AND "LOC129931761"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 507519	NM_004550.5(NDUFS2):c.-45T>C	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514078	NM_004550.5(NDUFS2):c.-26T>A	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 138489	NM_004550.5(NDUFS2):c.-20C>T	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 214788	NM_001377299.1(NDUFS2):c.30C>A (p.Phe10Leu)	LOC129931761, NDUFS2 (F10L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 516382	NM_001377299.1(NDUFS2):c.39C>A (p.Val13=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 293269	NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)	NDUFS2, LOC129931761 (P20T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 2136289	NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)	LOC129931761, NDUFS2 (P20L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 214789	NM_001377299.1(NDUFS2):c.70G>C (p.Val24Leu)	LOC129931761, NDUFS2 (V24L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 391385	NM_001377299.1(NDUFS2):c.95+8C>T	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 214790	NM_001377299.1(NDUFS2):c.95+9G>C	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +2 more	GBenign/Likely benign