ClinVar for MedGen (Select 463103) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584682	NM_004208.4(AIFM1):c.782-3C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
Select item 2444188	NM_004208.4(AIFM1):c.1267G>A (p.Val423Ile)	AIFM1, RAB33A (V419I +2 more)	Single nucleotide variant (missense variant +2 more)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
Select item 2441878	NM_004208.4(AIFM1):c.1596T>A (p.Ser532Arg)	AIFM1, RAB33A (S193R +2 more)	Single nucleotide variant (missense variant +2 more)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
Select item 1343826	NM_004208.4(AIFM1):c.1164+5G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Severe X-linked mitochondrial encephalomyopathy	GPathogenic
Select item 1312954	NM_004208.4(AIFM1):c.460G>A (p.Asp154Asn)	RAB33A, AIFM1 (D150N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1179012	NM_004208.4(AIFM1):c.1227TGG[1] (p.Gly411del)	AIFM1, RAB33A (G407del +2 more)	Microsatellite (inframe_deletion +2 more)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
Select item 1028702	NM_004208.4(AIFM1):c.147G>C (p.Gln49His)	RAB33A, AIFM1 (Q49H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 982823	NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu)	AIFM1, RAB33A (P165L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +3 more	GConflicting classifications of pathogenicity
Select item 914371	NM_004208.4(AIFM1):c.-90G>C	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914370	NM_004208.4(AIFM1):c.248A>G (p.Tyr83Cys)	AIFM1, RAB33A (Y83C)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
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 +6 more	GBenign/Likely benign
Select item 913254	NM_004208.4(AIFM1):c.697-4C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
Select item 913253	NM_004208.4(AIFM1):c.858+13T>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
Select item 912875	NM_004208.4(AIFM1):c.968-14T>A	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GBenign
Select item 912874	NM_004208.4(AIFM1):c.1355T>C (p.Val452Ala)	AIFM1, RAB33A (V113A +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +3 more	GUncertain significance
Select item 857026	NM_004208.4(AIFM1):c.340G>A (p.Ala114Thr)	AIFM1, RAB33A (A110T +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +3 more	GConflicting classifications of pathogenicity
Select item 732675	NM_004208.4(AIFM1):c.727G>T (p.Val243Leu)	AIFM1, RAB33A (V243L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease X-linked recessive 4 +1 more	GConflicting classifications of pathogenicity
Select item 732668	NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu)	RAB33A, AIFM1 (G338E +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Severe X-linked mitochondrial encephalomyopathy	GPathogenic
Select item 732658	NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu)	AIFM1, RAB33A (G308E +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease X-linked recessive 4 +1 more	GConflicting classifications of pathogenicity
Select item 642792	NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)	AIFM1, RAB33A (I561V +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5 +6 more	GUncertain significance
Select item 543932	NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +7 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)	Charcot-Marie-Tooth Neuropathy X +6 more	GConflicting classifications of pathogenicity
Select item 377456	NM_004208.4(AIFM1):c.1644G>A (p.Pro548=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 369972	NM_004208.4(AIFM1):c.1436A>G (p.Gln479Arg)	AIFM1, RAB33A (Q479R +2 more)	Single nucleotide variant (missense variant +2 more)	Severe X-linked mitochondrial encephalomyopathy	GPathogenic
Select item 367897	NM_004208.4(AIFM1):c.-185G>A	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +1 more)	Severe X-linked mitochondrial encephalomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 367896	NM_004208.4(AIFM1):c.-165G>A	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Severe X-linked mitochondrial encephalomyopathy	GBenign
Select item 367895	NM_004208.4(AIFM1):c.-140C>G	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
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
Select item 367893	NM_004208.4(AIFM1):c.262A>G (p.Met88Val)	AIFM1, RAB33A (M88V +1 more)	Single nucleotide variant (missense variant +1 more)	Severe X-linked mitochondrial encephalomyopathy +3 more	GBenign/Likely benign
Select item 367892	NM_004208.4(AIFM1):c.273T>C (p.Asp91=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Severe X-linked mitochondrial encephalomyopathy +6 more	GBenign
Select item 367891	NM_004208.4(AIFM1):c.366A>G (p.Glu122=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 367890	NM_004208.4(AIFM1):c.606-15C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +8 more	GBenign
Select item 367889	NM_004208.4(AIFM1):c.1647A>G (p.Ala549=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 367888	NM_004208.4(AIFM1):c.*49C>T	AIFM1, RAB33A	Single nucleotide variant (3 prime UTR variant +1 more)	Severe X-linked mitochondrial encephalomyopathy	GUncertain significance
Select item 214082	NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln)	AIFM1, RAB33A (R151Q +1 more)	Single nucleotide variant (missense variant +1 more)	Severe X-linked mitochondrial encephalomyopathy +3 more	GUncertain significance
Select item 214080	NM_004208.4(AIFM1):c.1047C>T (p.Ser349=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 162480	NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	AIFM1, RAB33A (R422Q +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +3 more	GPathogenic/Likely pathogenic
Select item 162479	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1, RAB33A (R422W +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +5 more	GPathogenic/Likely pathogenic
Select item 136326	NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)	LOC130068679, RAB33A +1 more (P35S)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease X-linked recessive 4 +6 more	GBenign/Likely benign
Select item 136325	NM_004208.4(AIFM1):c.1833T>C (p.His611=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +8 more	GBenign/Likely benign
Select item 136324	NM_004208.4(AIFM1):c.1416T>C (p.Ala472=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	AIFM1-related disorder +6 more	GBenign/Likely benign
Select item 136323	NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	not provided +7 more	GBenign/Likely benign
Select item 136322	NM_004208.4(AIFM1):c.996A>G (p.Gln332=)	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +3 more)	Combined oxidative phosphorylation deficiency +5 more	GBenign
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 11546	NM_004208.4(AIFM1):c.603_605del (p.Arg201del)	AIFM1, RAB33A (R201del +1 more)	Deletion (inframe_deletion +1 more)	Severe X-linked mitochondrial encephalomyopathy	GPathogenic

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Items: 45