ClinVar for MedGen (Select 335096) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703043	NM_004208.4(AIFM1):c.1705A>G (p.Arg569Gly)	RAB33A, AIFM1 (R230G +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 1703042	NM_004208.4(AIFM1):c.1773C>G (p.Ile591Met)	RAB33A, AIFM1 (I252M +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 1333526	NM_004208.4(AIFM1):c.994C>G (p.Gln332Glu)	RAB33A, AIFM1 (Q328E +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Deafness, X-linked 5	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 804085	NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr)	AIFM1, RAB33A (I410T +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5	GUncertain significance
Select item 655000	NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln)	AIFM1, RAB33A (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 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 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 218110	NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala)	AIFM1, RAB33A (T260A +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness, X-linked 5	GPathogenic
Select item 218108	NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1, RAB33A (R451Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 162486	NM_004208.4(AIFM1):c.1113C>T (p.Ser371=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 162485	NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg)	RAB33A, AIFM1 (G360R +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 162484	NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val)	AIFM1, RAB33A (A440V +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 162483	NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His)	AIFM1, RAB33A (Y560H +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 162482	NM_004208.4(AIFM1):c.1492G>A (p.Val498Met)	AIFM1, RAB33A (V498M +2 more)	Single nucleotide variant (missense variant +2 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 162481	NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)	AIFM1, RAB33A (P475L +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
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)	RAB33A, AIFM1 (R422W +2 more)	Single nucleotide variant (missense variant +2 more)	Severe X-linked mitochondrial encephalomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 162478	NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser)	AIFM1, RAB33A (N366S +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 162477	NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe)	AIFM1, RAB33A (L344F +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GConflicting classifications of pathogenicity
Select item 162476	NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr)	RAB33A, AIFM1 (I287T +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 162475	NM_004208.4(AIFM1):c.845C>T (p.Thr282Met)	RAB33A, AIFM1 (T282M +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 162474	NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro)	AIFM1, RAB33A (L187P +1 more)	Indel (missense variant +1 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 162473	NM_004208.4(AIFM1):c.434C>T (p.Ala145Val)	RAB33A, AIFM1 (A145V +1 more)	Single nucleotide variant (missense variant +1 more)	Deafness, X-linked 5	GLikely pathogenic
Select item 162472	NM_004208.4(AIFM1):c.-123G>C	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Deafness, X-linked 5	GLikely 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 30