GAN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1193294	NC_000016.10:g.81314671G>C	GAN	Single nucleotide variant	not provided	GLikely benign
Select item 682664	NM_022041.3(GAN):c.-323G>T	GAN	Single nucleotide variant	not provided	GBenign
Select item 320645	NM_022041.4(GAN):c.-111G>A	GAN	Single nucleotide variant (5 prime UTR variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 590797	NC_000016.9:g.(81367334_81379355)_(81401689_81410823)del	GAN	Deletion	Giant axonal neuropathy 1	GLikely pathogenic
Select item 1293482	NM_022041.4(GAN):c.168-147A>G	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282624	NM_022041.4(GAN):c.168-66G>A	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261483	NM_022041.4(GAN):c.168-48C>G	GAN	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 2987546	NM_022041.4(GAN):c.168-12dup	GAN	Duplication (intron variant)	Giant axonal neuropathy 1	GBenign
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 2144141	NM_022041.4(GAN):c.168-11C>T	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 1490719	NM_022041.4(GAN):c.168-5C>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637090	NM_022041.4(GAN):c.168-1G>A	GAN	Single nucleotide variant (splice acceptor variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1445496	NM_022041.4(GAN):c.170C>T (p.Thr57Ile)	GAN (T57I)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 465393	NM_022041.4(GAN):c.173A>G (p.Lys58Arg)	GAN (K58R)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1927366	NM_022041.4(GAN):c.182A>G (p.Tyr61Cys)	GAN (Y61C)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 3098278	NM_022041.4(GAN):c.188C>G (p.Pro63Arg)	GAN (P63R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1393852	NM_022041.4(GAN):c.188C>T (p.Pro63Leu)	GAN (P63L)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 850801	NM_022041.4(GAN):c.198T>G (p.Asp66Glu)	GAN (D66E)	Single nucleotide variant (intron variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1471279	NM_022041.4(GAN):c.200A>G (p.Asp67Gly)	GAN (D67G)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 1683710	NM_022041.4(GAN):c.202G>T (p.Gly68Ter)	GAN (G68*)	Single nucleotide variant (nonsense +1 more)	Giant axonal neuropathy 1	GLikely pathogenic
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 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 637088	NM_022041.4(GAN):c.213T>A (p.Tyr71Ter)	GAN (Y71*)	Single nucleotide variant (nonsense +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 799945	NM_022041.4(GAN):c.216G>A (p.Lys72=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 533925	NM_022041.4(GAN):c.218T>C (p.Ile73Thr)	GAN (I73T)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637106	NM_022041.4(GAN):c.224T>A (p.Leu75His)	GAN (L75H)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 637534	NM_022041.4(GAN):c.236C>T (p.Ser79Leu)	GAN (S79L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 513198	NM_022041.4(GAN):c.237G>A (p.Ser79=)	GAN	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1394479	NM_022041.4(GAN):c.238G>T (p.Val80Leu)	GAN (V80L)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 934012	NM_022041.4(GAN):c.238G>C (p.Val80Leu)	GAN (V80L)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 660928	NM_022041.4(GAN):c.244G>C (p.Val82Leu)	GAN (V82L)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 637531	NM_022041.4(GAN):c.244G>T (p.Val82Phe)	GAN (V82F)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1965041	NM_022041.4(GAN):c.246T>G (p.Val82=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 956052	NM_022041.4(GAN):c.247A>G (p.Met83Val)	GAN (M83V)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2092904	NM_022041.4(GAN):c.252A>G (p.Arg84=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 759281	NM_022041.4(GAN):c.255G>A (p.Glu85=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 637537	NM_022041.4(GAN):c.256A>T (p.Ile86Phe)	GAN (I86F)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1705582	NM_022041.4(GAN):c.260T>G (p.Leu87Arg)	GAN (L87R)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637448	NM_022041.4(GAN):c.266A>G (p.Tyr89Cys)	GAN (Y89C)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 848300	NM_022041.4(GAN):c.274A>C (p.Ser92Arg)	GAN (S92R)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1028744	NM_022041.4(GAN):c.275G>T (p.Ser92Ile)	GAN (S92I)	Single nucleotide variant (missense variant +1 more)	Giant axonal neuropathy 1	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 2504613	NM_022041.4(GAN):c.280C>T (p.Gln94Ter)	GAN (Q94*)	Single nucleotide variant (nonsense +1 more)	Giant axonal neuropathy	GUncertain significance
Select item 1007025	NM_022041.4(GAN):c.282G>A (p.Gln94=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 1164699	NM_022041.4(GAN):c.282+7_282+9del	GAN	Microsatellite (intron variant)	Giant axonal neuropathy 1	GBenign
Select item 637094	NM_022041.4(GAN):c.282+3A>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 1629685	NM_022041.4(GAN):c.282+15_282+18del	GAN	Deletion (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 680313	NM_022041.4(GAN):c.282+223C>T	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682665	NM_022041.4(GAN):c.283-283A>G	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186283	NM_022041.4(GAN):c.283-229A>G	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198192	NM_022041.4(GAN):c.283-149dup	GAN	Duplication (intron variant)	not provided	GLikely benign
Select item 1298055	NM_022041.4(GAN):c.283-149del	GAN	Deletion (intron variant)	not provided	GBenign
Select item 1186114	NM_022041.4(GAN):c.283-150_283-149del	GAN	Deletion (intron variant)	not provided	GLikely benign
Select item 675707	NM_022041.4(GAN):c.283-40G>T	GAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 377911	NM_022041.4(GAN):c.283-20T>C	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GBenign/Likely benign
Select item 887048	NM_022041.4(GAN):c.283-15A>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GConflicting classifications of pathogenicity
Select item 261484	NM_022041.4(GAN):c.283-14T>C	GAN	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 758774	NM_022041.4(GAN):c.283-10A>G	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 945377	NM_022041.4(GAN):c.283-3T>A	GAN	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
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 1963818	NM_022041.4(GAN):c.288G>A (p.Arg96=)	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 863261	NM_022041.4(GAN):c.295G>A (p.Glu99Lys)	GAN (E99K)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1533634	NM_022041.4(GAN):c.300T>C (p.Asp100=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1438802	NM_022041.4(GAN):c.301dup (p.Thr101fs)	GAN (T101fs)	Duplication (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 1335221	NM_022041.4(GAN):c.302C>A (p.Thr101Lys)	GAN (T101K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1799228	NM_022041.4(GAN):c.304A>C (p.Ile102Leu)	GAN (I102L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 835533	NM_022041.4(GAN):c.304A>G (p.Ile102Val)	GAN (I102V)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637100	NM_022041.4(GAN):c.305T>C (p.Ile102Thr)	GAN (I102T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1799459	NM_022041.4(GAN):c.306C>G (p.Ile102Met)	GAN (I102M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1451193	NM_022041.4(GAN):c.307C>T (p.Gln103Ter)	GAN (Q103*)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 465395	NM_022041.4(GAN):c.311A>G (p.Asp104Gly)	GAN (D104G)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1024101	NM_022041.4(GAN):c.313GTT[1] (p.Val106del)	GAN (V106del)	Microsatellite (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 634516	NM_022041.4(GAN):c.314T>C (p.Val105Ala)	GAN (V105A)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 439752	NM_022041.4(GAN):c.322G>A (p.Ala108Thr)	GAN (A108T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1524278	NM_022041.4(GAN):c.325G>C (p.Ala109Pro)	GAN (A109P)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 533940	NM_022041.4(GAN):c.330C>T (p.Asp110=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GLikely benign
Select item 1121662	NM_022041.4(GAN):c.331C>T (p.Leu111=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1576039	NM_022041.4(GAN):c.333G>C (p.Leu111=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1116260	NM_022041.4(GAN):c.333G>A (p.Leu111=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1013103	NM_022041.4(GAN):c.334C>T (p.Leu112=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 954301	NM_022041.4(GAN):c.338T>G (p.Leu113Arg)	GAN (L113R)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637447	NM_022041.4(GAN):c.343_360del (p.Thr115_Leu120del)	GAN	Deletion (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 533924	NM_022041.4(GAN):c.345G>A (p.Thr115=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1928247	NM_022041.4(GAN):c.348C>G (p.Asp116Glu)	GAN (D116E)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 426643	NM_022041.4(GAN):c.355A>T (p.Thr119Ser)	GAN (T119S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 2524371	NM_022041.4(GAN):c.356C>T (p.Thr119Ile)	GAN (T119I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1437473	NM_022041.4(GAN):c.356C>G (p.Thr119Ser)	GAN (T119S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 933429	NM_022041.4(GAN):c.358C>A (p.Leu120Met)	GAN (L120M)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 392588	NM_022041.4(GAN):c.358C>T (p.Leu120=)	GAN	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +3 more	GLikely benign
Select item 1687165	NM_022041.4(GAN):c.362G>A (p.Cys121Tyr)	GAN (C121Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637104	NM_022041.4(GAN):c.371T>G (p.Phe124Cys)	GAN (F124C)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 465396	NM_022041.4(GAN):c.374T>C (p.Leu125Ser)	GAN (L125S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely pathogenic

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