C3809592[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437799	NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu)	FBXL4 (P574L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +2 more	GUncertain significance
Select item 2441390	NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)	FBXL4 (C489G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 2441393	NM_001278716.2(FBXL4):c.1390-2172C>T	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437744	NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr)	FBXL4 (M463T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 2441392	NM_001278716.2(FBXL4):c.1317+137T>C	FBXL4	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 66091	NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	FBXL4 (R435*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 13 +3 more	GPathogenic
Select item 437475	NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)	FBXL4 (C411Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2441391	NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg)	FBXL4 (S385R)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13	GUncertain significance
Select item 437700	NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys)	FBXL4 (R379C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 437691	NM_001278716.2(FBXL4):c.1103+13C>T	FBXL4	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 13 +1 more	GConflicting classifications of pathogenicity
Select item 437635	NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr)	FBXL4 (M259T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 437590	NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser)	FBXL4 (W176S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 13 +1 more	GUncertain significance
Select item 437490	NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	FBXL4 (R98*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA depletion syndrome 13 +1 more	GPathogenic/Likely pathogenic