ClinVar for MedGen (Select 376775) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3016575	NM_022041.4(GAN):c.1236+17G>T	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 3016150	NM_022041.4(GAN):c.1502+11dup	GAN	Duplication (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 3015636	NM_022041.4(GAN):c.1209G>A (p.Lys403=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 3015193	NM_022041.4(GAN):c.852-17C>T	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 3012914	NM_022041.4(GAN):c.231G>T (p.Gly77=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 3010275	NM_022041.4(GAN):c.1237-17T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 3001876	NM_022041.4(GAN):c.168-19A>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2997686	NM_022041.4(GAN):c.201T>C (p.Asp67=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2994919	NM_022041.4(GAN):c.1086+10T>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2991358	NM_022041.4(GAN):c.1182C>G (p.Tyr394Ter)	GAN (Y181* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GPathogenic
Select item 2988255	NM_022041.4(GAN):c.1140A>G (p.Gly380=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2987546	NM_022041.4(GAN):c.168-12dup	GAN	Duplication (intron variant)	Giant axonal neuropathy 1	GBenign
Select item 2979788	NM_022041.4(GAN):c.357C>T (p.Thr119=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2977134	NM_022041.4(GAN):c.1502+20C>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2968392	NM_022041.4(GAN):c.1716C>T (p.Ala572=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2964245	NM_022041.4(GAN):c.18C>T (p.Ala6=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2918085	NM_022041.4(GAN):c.1374-18C>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2917517	NM_022041.4(GAN):c.1074A>G (p.Pro358=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2908974	NM_022041.4(GAN):c.1617C>T (p.Thr539=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2908213	NM_022041.4(GAN):c.974-19T>A	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2905663	NM_022041.4(GAN):c.135G>A (p.Lys45=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2895555	NM_022041.4(GAN):c.1612+16T>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2888745	NM_022041.4(GAN):c.828G>A (p.Val276=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2884578	NM_022041.4(GAN):c.123C>T (p.Ile41=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2882917	NM_022041.4(GAN):c.167+5_167+6del	GAN, LOC130059498	Deletion (intron variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2881223	NM_022041.4(GAN):c.1680C>G (p.Leu560=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2871112	NM_022041.4(GAN):c.118G>T (p.Glu40Ter)	GAN, LOC130059498 (E40*)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 2867353	NM_022041.4(GAN):c.447T>G (p.Val149=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2867015	NM_022041.4(GAN):c.27C>G (p.Asp9Glu)	GAN, LOC130059498 (D9E)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2859101	NM_022041.4(GAN):c.1260A>G (p.Lys420=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2858878	NM_022041.4(GAN):c.1650C>T (p.Ser550=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2857348	NM_022041.4(GAN):c.384C>A (p.Cys128Ter)	GAN (C128*)	Single nucleotide variant (nonsense +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 2847723	NM_022041.4(GAN):c.1374-20C>T	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2839021	NM_022041.4(GAN):c.582T>A (p.Tyr194Ter)	GAN (Y194*)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 2834509	NM_022041.4(GAN):c.633+7G>A	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2808332	NM_022041.4(GAN):c.206_213dup (p.Lys72fs)	GAN (K72fs)	Duplication (frameshift variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 2807085	NM_022041.4(GAN):c.1629C>A (p.Tyr543Ter)	GAN (Y543* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GUncertain significance
Select item 2806172	NM_022041.4(GAN):c.168-12T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2771080	NM_022041.4(GAN):c.489C>T (p.Asp163=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2769785	NM_022041.4(GAN):c.282+2T>A	GAN	Single nucleotide variant (splice donor variant +1 more)	Giant axonal neuropathy 1	GLikely pathogenic
Select item 2766551	NM_022041.4(GAN):c.84C>T (p.Arg28=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2759652	NM_022041.4(GAN):c.779_780del (p.Glu260fs)	GAN (E260fs +1 more)	Deletion (frameshift variant)	Giant axonal neuropathy 1	GPathogenic
Select item 2754833	NM_022041.4(GAN):c.204A>G (p.Gly68=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2753775	NM_022041.4(GAN):c.852-15T>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2752456	NM_022041.4(GAN):c.973+13G>A	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2741772	NM_022041.4(GAN):c.79T>C (p.Ser27Pro)	GAN, LOC130059498 (S27P)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2741319	NM_022041.4(GAN):c.723A>T (p.Val241=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2737976	NM_022041.4(GAN):c.1377T>C (p.Phe459=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2733770	NM_022041.4(GAN):c.1059A>C (p.Thr353=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2728018	NM_022041.4(GAN):c.894C>T (p.Leu298=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2706217	NM_022041.4(GAN):c.735C>G (p.Val245=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2694209	NM_022041.4(GAN):c.450T>C (p.His150=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2664443	NM_022041.4(GAN):c.1529T>G (p.Leu510Ter)	GAN (L297* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GUncertain significance
Select item 2627387	NM_022041.4(GAN):c.1690dup (p.Asp564fs)	GAN (D351fs +1 more)	Duplication (frameshift variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2500950	NM_022041.4(GAN):c.1503-2A>G	GAN	Single nucleotide variant (splice acceptor variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2498221	NM_022041.4(GAN):c.861dup (p.Pro288fs)	GAN (P288fs +1 more)	Duplication (frameshift variant)	Giant axonal neuropathy 1	GPathogenic
Select item 2440411	NM_022041.4(GAN):c.626del (p.Ile209fs)	GAN (I209fs)	Deletion (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely pathogenic
Select item 2432034	NM_022041.4(GAN):c.804C>G (p.Pro268=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2431044	NM_022041.4(GAN):c.1670C>G (p.Thr557Ser)	GAN (T344S +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GPathogenic
Select item 2431043	NM_022041.4(GAN):c.1387G>A (p.Ala463Thr)	GAN (A250T +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GPathogenic
Select item 2431042	NM_022041.4(GAN):c.215A>T (p.Lys72Met)	GAN (K72M)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 2426707	NC_000016.9:g.(?_81348719)_(81348905_?)dup	GAN	Duplication	Giant axonal neuropathy 1	GUncertain significance
Select item 2426706	NC_000016.9:g.(?_81348719)_(81396236_?)dup	GAN	Duplication	Giant axonal neuropathy 1	GUncertain significance
Select item 2416990	NM_022041.4(GAN):c.402T>C (p.Cys134=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2414880	NM_022041.4(GAN):c.921C>A (p.Ile307=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2414465	NM_022041.4(GAN):c.1428C>T (p.Val476=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 2413857	NM_022041.4(GAN):c.634-9C>T	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2394456	NM_022041.4(GAN):c.288G>T (p.Arg96Ser)	GAN (R96S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 2197349	NM_022041.4(GAN):c.279G>T (p.Gly93=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2196101	NM_022041.4(GAN):c.167+16C>T	LOC130059498, GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2194368	NM_022041.4(GAN):c.465A>G (p.Glu155=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2192668	NM_022041.4(GAN):c.289C>G (p.Leu97Val)	GAN (L97V)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2188610	NM_022041.4(GAN):c.293A>G (p.Asn98Ser)	GAN (N98S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2180390	NM_022041.4(GAN):c.1118A>T (p.Asp373Val)	GAN (D373V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2174090	NM_022041.4(GAN):c.879A>G (p.Arg293=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2172564	NM_022041.4(GAN):c.1537C>G (p.Pro513Ala)	GAN (P300A +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2172383	NM_022041.4(GAN):c.687T>C (p.Ser229=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2172101	NM_022041.4(GAN):c.767C>T (p.Pro256Leu)	GAN (P256L +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2169807	NM_022041.4(GAN):c.633+11T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2169187	NM_022041.4(GAN):c.1360C>G (p.Leu454Val)	GAN (L454V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2166074	NM_022041.4(GAN):c.142C>T (p.Leu48=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2161548	NM_022041.4(GAN):c.1094A>G (p.His365Arg)	GAN (H152R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160832	NM_022041.4(GAN):c.882C>T (p.Cys294=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2159608	NM_022041.4(GAN):c.1048G>A (p.Asp350Asn)	GAN (D137N +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2153097	NM_022041.4(GAN):c.1521C>T (p.Asp507=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2152463	NM_022041.4(GAN):c.633+10A>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2148421	NM_022041.4(GAN):c.1329C>T (p.Pro443=)	GAN	Single nucleotide variant (synonymous variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2144987	NM_022041.4(GAN):c.1727C>T (p.Ala576Val)	GAN (A576V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2144141	NM_022041.4(GAN):c.168-11C>T	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2143201	NM_022041.4(GAN):c.1177T>C (p.Cys393Arg)	GAN (C180R +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2140585	NM_022041.4(GAN):c.944C>G (p.Pro315Arg)	GAN (P315R +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2130988	NM_022041.4(GAN):c.1228G>A (p.Val410Ile)	GAN (V197I +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2126373	NM_022041.4(GAN):c.37G>A (p.Ala13Thr)	GAN, LOC130059498 (A13T)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2121992	NM_022041.4(GAN):c.1612+7G>A	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2121292	NM_022041.4(GAN):c.1417T>C (p.Phe473Leu)	GAN (F473L +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2121291	NM_022041.4(GAN):c.573T>C (p.Asn191=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 2115818	NM_022041.4(GAN):c.852-4T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 2113920	NM_022041.4(GAN):c.703A>G (p.Met235Val)	GAN (M235V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2107922	NM_022041.4(GAN):c.381C>G (p.Gly127=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2107574	NM_022041.4(GAN):c.1525A>C (p.Asn509His)	GAN (N296H +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance

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