"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916943	NM_004208.4(AIFM1):c.*20C>A	RAB33A, AIFM1	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GLikely 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
Select item 916944	NM_004208.4(AIFM1):c.1782C>T (p.Asp594=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease	GLikely benign
Select item 916843	NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)	AIFM1, RAB33A (I204V +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +2 more	GUncertain significance
Select item 372555	NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys)	AIFM1, RAB33A (E533K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 916945	NM_004208.4(AIFM1):c.1574-20G>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +2 more	GLikely benign
Select item 136324	NM_004208.4(AIFM1):c.1416T>C (p.Ala472=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +6 more	GBenign/Likely benign
Select item 136323	NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	not provided +6 more	GBenign/Likely benign
Select item 214080	NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +6 more	GBenign/Likely benign
Select item 136322	NM_004208.4(AIFM1):c.996A>G (p.Gln332=)	RAB33A, AIFM1	Single nucleotide variant (5 prime UTR variant +3 more)	Severe X-linked mitochondrial encephalomyopathy +5 more	GBenign
Select item 916946	NM_004208.4(AIFM1):c.939C>T (p.Ser313=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +3 more	GLikely benign
Select item 136320	NM_004208.4(AIFM1):c.918C>T (p.Ile306=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +5 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 427033	NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys)	RAB33A, AIFM1 (R201K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 916942	NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)	AIFM1, RAB33A (M167I +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 696066	NM_004208.4(AIFM1):c.273_274inv (p.Glu92Lys)	AIFM1, RAB33A (E88K +1 more)	Inversion (missense variant +1 more)	Charcot-Marie-Tooth disease +2 more	GLikely benign
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 916947	NM_004208.4(AIFM1):c.249+1258T>C	AIFM1, RAB33A (Y64H)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 367894	NM_004208.4(AIFM1):c.72C>T (p.Cys24=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +4 more	GBenign/Likely benign