"GeneDx"[submitter] AND "LOC112552175"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 676292	NM_175614.5(NDUFA11):c.97+144G>C	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449316	NM_175614.5(NDUFA11):c.97+5G>A	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 393269	NM_175614.5(NDUFA11):c.97+1G>A	LOC112552175, NDUFA11	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 509667	NM_175614.5(NDUFA11):c.54C>T (p.Cys18=)	NDUFA11, LOC112552175	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 138443	NM_175614.5(NDUFA11):c.48C>T (p.Thr16=)	LOC112552175, NDUFA11	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214693	NM_175614.5(NDUFA11):c.30G>T (p.Trp10Cys)	LOC112552175, NDUFA11 (W10C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 507694	NM_175614.5(NDUFA11):c.-33G>T	LOC112552175, NDUFA11	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 381071	NM_175614.5(NDUFA11):c.-43C>T	LOC112552175, NDUFA11	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 330240	NM_175614.4(NDUFA11):c.-88C>A	LOC112552175, NDUFA11	Single nucleotide variant	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign
Select item 330244	NM_175614.4(NDUFA11):c.-217A>G	LOC112552175, NDUFA11	Single nucleotide variant	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GBenign