"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AIFM1"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 136325	NM_004208.4(AIFM1):c.1833T>C (p.His611=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +9 more	GBenign/Likely benign
Select item 642792	NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)	AIFM1, RAB33A (I561V +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease X-linked recessive 4 +6 more	GUncertain significance
Select item 543932	NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +7 more	GBenign/Likely benign
Select item 367890	NM_004208.4(AIFM1):c.606-15C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Bieganski type +8 more	GBenign
Select item 913255	NM_004208.4(AIFM1):c.597A>G (p.Lys199=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Severe X-linked mitochondrial encephalomyopathy +5 more	GBenign/Likely benign
Select item 445310	NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)	AIFM1, RAB33A (S57C)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +6 more	GConflicting classifications of pathogenicity
Select item 136326	NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)	AIFM1, LOC130068679 +1 more (P35S)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GBenign/Likely benign