ClinVar for MedGen (Select 335350) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444375	NM_004208.4(AIFM1):c.1696T>A (p.Phe566Ile)	AIFM1, RAB33A (F227I +2 more)	Single nucleotide variant (missense variant +2 more)	Spondyloepimetaphyseal dysplasia, Bieganski type	GUncertain significance
Select item 2412786	NM_004208.4(AIFM1):c.742G>A (p.Gly248Ser)	AIFM1, RAB33A (G244S +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Bieganski type	GLikely pathogenic
Select item 1805860	NM_004208.4(AIFM1):c.649C>G (p.Leu217Val)	AIFM1, RAB33A (L213V +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Bieganski type	GUncertain significance
Select item 1327116	NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys)	AIFM1, RAB33A (E250K +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Bieganski type	GUncertain significance
Select item 932022	NM_004208.4(AIFM1):c.1770+12T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +2 more	GConflicting classifications of pathogenicity
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 694668	NM_004208.4(AIFM1):c.697-44T>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Bieganski type	GPathogenic
Select item 694667	NM_004208.4(AIFM1):c.705G>C (p.Gln235His)	AIFM1, RAB33A (Q235H +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Bieganski type	GPathogenic
Select item 694665	NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly)	AIFM1, RAB33A (D237G +1 more)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia, Bieganski type	GPathogenic
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 598756	NM_004208.4(AIFM1):c.720C>T (p.Asp240=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 373913	NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)	RAB33A, AIFM1 (A549V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 367892	NM_004208.4(AIFM1):c.273T>C (p.Asp91=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GBenign
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 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
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