"GeneDx"[submitter] AND "FDX2"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1291012	NM_001397406.1(FDX2):c.*180C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 383056	NM_001397406.1(FDX2):c.498G>T (p.Leu166=)	FDX2-ZGLP1, FDX2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1211513	NM_001397406.1(FDX2):c.471G>A (p.Pro157=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1904965	NM_001397406.1(FDX2):c.442C>T (p.Arg148Trp)	FDX2, FDX2-ZGLP1 (R148W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 384778	NM_001397406.1(FDX2):c.441G>A (p.Ser147=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1178157	NM_001397406.1(FDX2):c.396-67C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190433	NM_001397406.1(FDX2):c.308-164T>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208792	NM_001397406.1(FDX2):c.308-221G>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211431	NM_001397406.1(FDX2):c.308-269C>G	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 1262244	NM_001397406.1(FDX2):c.307+76T>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266746	NM_001397406.1(FDX2):c.307+68_307+69del	FDX2, FDX2-ZGLP1	Deletion (intron variant)	not provided	GBenign
Select item 1229561	NM_001397406.1(FDX2):c.307+69del	FDX2, FDX2-ZGLP1	Deletion (intron variant)	not provided	GBenign
Select item 1237294	NM_001397406.1(FDX2):c.307+67_307+68insA	FDX2, FDX2-ZGLP1	Insertion (intron variant)	not provided	GBenign
Select item 1210704	NM_001397406.1(FDX2):c.307+67_307+68insAA	FDX2, FDX2-ZGLP1	Insertion (intron variant)	not provided	GLikely benign
Select item 1302758	NM_001397406.1(FDX2):c.307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GBenign
Select item 1292151	NM_001397406.1(FDX2):c.307+63_307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GBenign
Select item 1262916	NM_001397406.1(FDX2):c.307+67C>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196236	NM_001397406.1(FDX2):c.307+64_307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GLikely benign
Select item 1181398	NM_001397406.1(FDX2):c.307+62_307+66dup	FDX2, FDX2-ZGLP1	Duplication (intron variant)	not provided	GBenign
Select item 1221921	NM_001397406.1(FDX2):c.307+38A>C	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1116790	NM_001397406.1(FDX2):c.299A>G (p.Asp100Gly)	FDX2, FDX2-ZGLP1 (D100G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1210811	NM_001397406.1(FDX2):c.201-8G>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 420955	NM_001397406.1(FDX2):c.201-23_201-13delinsCTTCT	FDX2, FDX2-ZGLP1	Indel (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 380452	NM_001397406.1(FDX2):c.201-14C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 668503	NM_001397406.1(FDX2):c.201-17C>A	FDX2-ZGLP1, FDX2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1423272	NM_001397406.1(FDX2):c.165GGA[1] (p.Glu56del)	FDX2, FDX2-ZGLP1 +1 more (E56del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 380038	NM_001397406.1(FDX2):c.159T>G (p.Ala53=)	FDX2, FDX2-ZGLP1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 379972	NM_001397406.1(FDX2):c.145+16G>A	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 381874	NM_001397406.1(FDX2):c.145+12G>C	FDX2-ZGLP1, FDX2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 380451	NM_001397406.1(FDX2):c.145+4C>T	FDX2, FDX2-ZGLP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1435775	NM_001397406.1(FDX2):c.105G>C (p.Glu35Asp)	FDX2, FDX2-ZGLP1 (E35D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 516785	NM_001397406.1(FDX2):c.83G>C (p.Gly28Ala)	FDX2, FDX2-ZGLP1 (G28A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 380450	NM_001397406.1(FDX2):c.76A>G (p.Arg26Gly)	FDX2-ZGLP1, FDX2 (R26G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 380037	NM_001397406.1(FDX2):c.45A>G (p.Leu15=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy +2 more	GBenign
Select item 509062	NM_001397406.1(FDX2):c.40G>C (p.Val14Leu)	FDX2, FDX2-ZGLP1 (V14L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 383285	NM_001397406.1(FDX2):c.6C>A (p.Ala2=)	FDX2, FDX2-ZGLP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 507533	NM_001031734.3(FDX2):c.-11T>C	FDX2	Single nucleotide variant	not specified	GLikely benign
Select item 516907	NC_000019.10:g.10316030CGC[3]	FDX2	Microsatellite	not provided	GBenign
Select item 387770	NM_001031734.3(FDX2):c.-36C>T	FDX2	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 391037	NM_001031734.3(FDX2):c.-44C>T	FDX2	Single nucleotide variant	not specified	GLikely benign
Select item 1212511	NC_000019.10:g.10316099T>C	FDX2	Single nucleotide variant	not provided	GLikely benign
Select item 3361808	NM_001397406.1(FDX2):c.131A>G (p.Lys44Arg)	FDX2 (K44R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361041	NM_001397406.1(FDX2):c.196del (p.Asp66fs)	FDX2 (D66fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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Items: 44