Related gene-specific medical variations for Gene (Select 9363) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062487	GRCh37/hg19 Xq26.1(chrX:129300637-129325863)	RAB33A	Copy number loss	not specified	GUncertain significance
Select item 3061935	NM_004208.4(AIFM1):c.1463C>T (p.Pro488Leu)	AIFM1, RAB33A (P149L +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy spectrum disorder	GPathogenic
Select item 3061934	NM_004208.4(AIFM1):c.697G>A (p.Val233Ile)	AIFM1, RAB33A (V229I +1 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy spectrum disorder	GLikely pathogenic
Select item 3046355	NM_004208.4(AIFM1):c.968-349C>G	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +1 more)	AIFM1-related condition	GLikely benign
Select item 3039144	NM_004208.4(AIFM1):c.-119A>G	AIFM1, LOC130068679 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIFM1-related condition	GLikely benign
Select item 3038673	NM_004208.4(AIFM1):c.697-53T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	AIFM1-related condition	GLikely benign
Select item 3036015	NM_004208.4(AIFM1):c.1754T>C (p.Met585Thr)	AIFM1, RAB33A (M246T +2 more)	Single nucleotide variant (missense variant +2 more)	AIFM1-related condition	GUncertain significance
Select item 3032619	NM_004208.4(AIFM1):c.782-9T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	AIFM1-related condition	GLikely benign
Select item 3029922	NM_004208.4(AIFM1):c.-133G>A	LOC130068679, AIFM1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIFM1-related condition	GLikely benign
Select item 3029174	NM_004208.4(AIFM1):c.488C>G (p.Ser163Cys)	AIFM1, RAB33A (S163C +1 more)	Single nucleotide variant (missense variant +1 more)	AIFM1-related condition	GUncertain significance
Select item 3029143	NM_004208.4(AIFM1):c.32C>G (p.Ala11Gly)	AIFM1, LOC130068679 +1 more (A11G)	Single nucleotide variant (missense variant +1 more)	AIFM1-related condition	GUncertain significance
Select item 2954149	NM_004208.4(AIFM1):c.1076-10G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2951460	NM_004208.4(AIFM1):c.77G>C (p.Arg26Pro)	AIFM1, LOC130068679 +1 more (R26P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2950927	NM_004208.4(AIFM1):c.250-6C>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2950317	NM_004208.4(AIFM1):c.1636A>C (p.Ser546Arg)	AIFM1, RAB33A (S207R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2949781	NM_004208.4(AIFM1):c.1076-14G>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948631	NM_004208.4(AIFM1):c.1076-6T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948133	NM_004208.4(AIFM1):c.1155C>T (p.Asp385=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2948033	NM_004208.4(AIFM1):c.1076-7T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947856	NM_004208.4(AIFM1):c.51G>T (p.Val17=)	AIFM1, LOC130068679 +1 more	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2947625	NM_004208.4(AIFM1):c.881A>G (p.Glu294Gly)	AIFM1, RAB33A (E290G +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2947352	NM_004208.4(AIFM1):c.350-5T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2947002	NM_004208.4(AIFM1):c.723C>T (p.Asn241=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2946230	NM_004208.4(AIFM1):c.98G>A (p.Arg33Gln)	AIFM1, LOC130068679 +1 more (R33Q)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2946132	NM_004208.4(AIFM1):c.1771-8T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2943270	NM_004208.4(AIFM1):c.318A>G (p.Pro106=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2942879	NM_004208.4(AIFM1):c.756C>T (p.Thr252=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2942676	NM_004208.4(AIFM1):c.1448+12G>A	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2942330	NM_004208.4(AIFM1):c.1337A>G (p.Lys446Arg)	AIFM1, RAB33A (K107R +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2941935	NM_004208.4(AIFM1):c.700G>C (p.Val234Leu)	AIFM1, RAB33A (V230L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2941235	NM_004208.4(AIFM1):c.1161G>A (p.Arg387=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2941191	NM_004208.4(AIFM1):c.967+15G>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2941138	NM_004208.4(AIFM1):c.1688G>C (p.Gly563Ala)	AIFM1, RAB33A (G224A +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2941013	NM_004208.4(AIFM1):c.1373C>G (p.Ala458Gly)	AIFM1, RAB33A (A454G +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940562	NM_004208.4(AIFM1):c.397C>T (p.Pro133Ser)	AIFM1, RAB33A (P129S +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2940453	NM_004208.4(AIFM1):c.1164+9G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2939214	NM_004208.4(AIFM1):c.651G>C (p.Leu217=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2938751	NM_004208.4(AIFM1):c.1441A>G (p.Met481Val)	AIFM1, RAB33A (M142V +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2938748	NM_004208.4(AIFM1):c.819T>A (p.Ala273=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2938337	NM_004208.4(AIFM1):c.537G>A (p.Leu179=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2937443	NM_004208.4(AIFM1):c.986A>G (p.Glu329Gly)	AIFM1, RAB33A (E329G +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2937368	NM_004208.4(AIFM1):c.31G>C (p.Ala11Pro)	AIFM1, LOC130068679 +1 more (A11P)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2936886	NM_004208.4(AIFM1):c.1573+3A>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2936547	NM_004208.4(AIFM1):c.1608C>T (p.Ser536=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2936083	NM_004208.4(AIFM1):c.559G>A (p.Val187Ile)	AIFM1, RAB33A (V187I +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935678	NM_004208.4(AIFM1):c.606-15C>G	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935650	NM_004208.4(AIFM1):c.349+13_349+14insTCCCTAC	AIFM1, RAB33A	Insertion (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935332	NM_004208.4(AIFM1):c.606-17CT[2]	AIFM1, RAB33A	Microsatellite (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2935101	NM_004208.4(AIFM1):c.1553A>G (p.Lys518Arg)	AIFM1, RAB33A (K514R +2 more)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2934821	NM_004208.4(AIFM1):c.782-11C>T	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GBenign
Select item 2934504	NM_004208.4(AIFM1):c.258G>T (p.Lys86Asn)	AIFM1, RAB33A (K86N +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2934417	NM_004208.4(AIFM1):c.1679A>G (p.Tyr560Cys)	AIFM1, RAB33A (Y560C +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GUncertain significance
Select item 2934140	NM_004208.4(AIFM1):c.249+18G>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2933356	NM_004208.4(AIFM1):c.1195G>A (p.Gly399Ser)	AIFM1, RAB33A (G60S +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
Select item 2933243	NM_004208.4(AIFM1):c.1559C>T (p.Ala520Val)	AIFM1, RAB33A (A516V +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2932529	NM_004208.4(AIFM1):c.966G>A (p.Lys322=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2932457	NM_004208.4(AIFM1):c.1589C>T (p.Ser530Leu)	AIFM1, RAB33A (S191L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2931833	NM_004208.4(AIFM1):c.562A>G (p.Thr188Ala)	AIFM1, RAB33A (T188A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2931826	NM_004208.4(AIFM1):c.1356A>G (p.Val452=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2931269	NM_004208.4(AIFM1):c.696+20_696+22del	AIFM1, RAB33A	Microsatellite (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2931216	NM_004208.4(AIFM1):c.349+6T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2929649	NM_004208.4(AIFM1):c.1005C>T (p.Pro335=)	AIFM1, RAB33A	Single nucleotide variant (5 prime UTR variant +3 more)	AIFM1-related condition +2 more	GLikely benign
Select item 2929565	NM_004208.4(AIFM1):c.738T>C (p.Asn246=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2929452	NM_004208.4(AIFM1):c.1771-14T>A	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2928438	NM_004208.4(AIFM1):c.1112C>A (p.Ser371Tyr)	AIFM1, RAB33A (S371Y +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2928089	NM_004208.4(AIFM1):c.1740C>T (p.Asn580=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2928059	NM_004208.4(AIFM1):c.649C>T (p.Leu217=)	RAB33A, AIFM1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GBenign
Select item 2925996	NM_004208.4(AIFM1):c.781+19G>A	RAB33A, AIFM1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2925030	NM_004208.4(AIFM1):c.173G>T (p.Gly58Val)	AIFM1, RAB33A (G58V)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2923976	NM_004208.4(AIFM1):c.846G>A (p.Thr282=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2923785	NM_004208.4(AIFM1):c.1719C>T (p.Val573=)	AIFM1, RAB33A	Single nucleotide variant (non-coding transcript variant +2 more)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2921945	NM_004208.4(AIFM1):c.967+9T>C	AIFM1, RAB33A	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency +1 more	GLikely benign
Select item 2921429	NM_004208.4(AIFM1):c.1044C>T (p.Leu348=)	AIFM1, RAB33A	Single nucleotide variant (non-coding transcript variant +2 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely benign
Select item 2683882	NM_004208.4(AIFM1):c.1394C>T (p.Ala465Val)	AIFM1, RAB33A (A126V +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683879	NM_004208.4(AIFM1):c.902A>T (p.Lys301Ile)	AIFM1, RAB33A (K297I +1 more)	Single nucleotide variant (missense variant +1 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683874	NM_004208.4(AIFM1):c.1408A>T (p.Thr470Ser)	AIFM1, RAB33A (T131S +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy	GLikely pathogenic
Select item 2683856	NM_004208.4(AIFM1):c.1415C>T (p.Ala472Val)	AIFM1, RAB33A (A133V +2 more)	Single nucleotide variant (missense variant +2 more)	Auditory neuropathy	GLikely pathogenic
Select item 2661435	NM_004208.4(AIFM1):c.5T>A (p.Phe2Tyr)	AIFM1, LOC130068679 +1 more (F2Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661434	NM_004208.4(AIFM1):c.176C>T (p.Ala59Val)	AIFM1, RAB33A (A59V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661433	NM_004208.4(AIFM1):c.184G>A (p.Gly62Ser)	AIFM1, RAB33A (G62S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661432	NM_004208.4(AIFM1):c.192C>T (p.Ile64=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661431	NM_004208.4(AIFM1):c.458G>A (p.Arg153Gln)	AIFM1, RAB33A (R149Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2661430	NM_004208.4(AIFM1):c.968-340A>G	AIFM1, RAB33A (D323G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2661429	NM_004208.4(AIFM1):c.1602A>G (p.Thr534=)	AIFM1, RAB33A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2661428	NM_004208.4(AIFM1):c.1669G>A (p.Gly557Arg)	AIFM1, RAB33A (G218R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2628840	NM_004208.4(AIFM1):c.193G>C (p.Asp65His)	AIFM1, RAB33A (D65H)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +2 more	GUncertain significance
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 2579437	NM_004208.4(AIFM1):c.790C>G (p.Pro264Ala)	AIFM1, RAB33A (P260A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575548	NM_004208.4(AIFM1):c.50T>C (p.Val17Ala)	AIFM1, LOC130068679 +1 more (V17A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571506	NM_004208.4(AIFM1):c.623C>T (p.Pro208Leu)	AIFM1, RAB33A (P204L +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease X-linked recessive 4	GUncertain significance
Select item 2540286	NM_004208.4(AIFM1):c.122G>A (p.Arg41Gln)	AIFM1, RAB33A (R41Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2507156	NM_004208.4(AIFM1):c.1208A>T (p.Asn403Ile)	AIFM1, RAB33A (N399I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2504354	NM_004208.4(AIFM1):c.673G>A (p.Val225Met)	AIFM1, RAB33A (V221M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2478983	NM_004208.4(AIFM1):c.406C>A (p.Leu136Ile)	AIFM1, RAB33A (L132I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2443662	NM_004208.4(AIFM1):c.1061A>C (p.Glu354Ala)	AIFM1, RAB33A (E15A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2438945	NM_004208.4(AIFM1):c.1163A>C (p.Lys388Thr)	AIFM1, RAB33A (K384T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2430404	NM_004208.4(AIFM1):c.1534A>G (p.Thr512Ala)	AIFM1, RAB33A (T173A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance

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