C1850386[trait identifier] AND "Inherited Neuropathy Consortium"[submi - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 637533	NM_022041.4(GAN):c.18_19insA (p.Val7fs)	GAN, LOC130059498 (V7fs)	Insertion (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GConflicting classifications of pathogenicity
Select item 637445	NM_022041.4(GAN):c.20_57del (p.Val7fs)	GAN, LOC130059498 (V7fs)	Deletion (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637102	NM_022041.4(GAN):c.98A>C (p.His33Pro)	GAN, LOC130059498 (H33P)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637097	NM_022041.4(GAN):c.130C>T (p.Gln44Ter)	GAN, LOC130059498 (Q44*)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637442	NM_022041.4(GAN):c.145G>A (p.Ala49Thr)	GAN, LOC130059498 (A49T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637096	NM_022041.4(GAN):c.146C>A (p.Ala49Glu)	GAN, LOC130059498 (A49E)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637087	NM_022041.4(GAN):c.151G>C (p.Ala51Pro)	LOC130059498, GAN (A51P)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637443	NM_022041.4(GAN):c.154A>G (p.Ser52Gly)	GAN, LOC130059498 (S52G)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637103	NM_022041.4(GAN):c.158C>T (p.Pro53Leu)	GAN, LOC130059498 (P53L)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 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 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 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 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 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 637094	NM_022041.4(GAN):c.282+3A>C	GAN	Single nucleotide variant (intron variant)	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 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 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 5035	NM_022041.4(GAN):c.413G>A (p.Arg138His)	GAN (R138H)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 637530	NM_022041.4(GAN):c.484C>T (p.Arg162Ter)	GAN (R162*)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GPathogenic
Select item 637093	NM_022041.4(GAN):c.545T>A (p.Ile182Asn)	GAN (I182N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 637449	NM_022041.4(GAN):c.583G>T (p.Val195Phe)	GAN (V195F)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 637091	NM_022041.4(GAN):c.633+1G>T	GAN	Single nucleotide variant (splice donor variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637539	NM_022041.4(GAN):c.724C>T (p.Arg242Ter)	GAN (R242* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GUncertain significance
Select item 637099	NM_022041.4(GAN):c.732del (p.Ile244fs)	GAN (I244fs +1 more)	Deletion (frameshift variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 583275	NM_022041.4(GAN):c.805C>T (p.Arg269Trp)	GAN (R269W +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 521988	NM_022041.4(GAN):c.806G>A (p.Arg269Gln)	GAN (R269Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 637536	NM_022041.4(GAN):c.877C>T (p.Arg293Ter)	GAN (R293* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GPathogenic
Select item 637541	NM_022041.4(GAN):c.896A>G (p.Tyr299Cys)	GAN (Y299C +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637446	NM_022041.4(GAN):c.896A>C (p.Tyr299Ser)	GAN (Y299S +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637532	NM_022041.4(GAN):c.926T>G (p.Leu309Arg)	GAN (L309R +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637098	NM_022041.4(GAN):c.971C>T (p.Ala324Val)	GAN (A324V +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637529	NM_022041.4(GAN):c.973G>A (p.Glu325Lys)	GAN (E325K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 578416	NM_022041.4(GAN):c.994G>A (p.Gly332Arg)	GAN (G332R +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 637540	NM_022041.4(GAN):c.1012A>T (p.Lys338Ter)	GAN (K338* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GPathogenic
Select item 637439	NM_022041.4(GAN):c.1086+1G>C	GAN	Single nucleotide variant (splice donor variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637432	NM_022041.4(GAN):c.1086+71C>T	GAN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 637538	NM_022041.4(GAN):c.1102G>A (p.Gly368Arg)	GAN (G368R +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637444	NM_022041.4(GAN):c.1179T>A (p.Cys393Ter)	GAN (C393* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GUncertain significance
Select item 637440	NM_022041.4(GAN):c.1203G>A (p.Trp401Ter)	GAN (W401* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GUncertain significance
Select item 637095	NM_022041.4(GAN):c.1237-1G>A	GAN	Single nucleotide variant (splice acceptor variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637101	NM_022041.4(GAN):c.1312G>A (p.Val438Ile)	GAN (V438I +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637105	NM_022041.4(GAN):c.1343G>T (p.Trp448Leu)	GAN (W448L +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 533933	NM_022041.4(GAN):c.1391G>A (p.Cys464Tyr)	GAN (C464Y +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 637441	NM_022041.4(GAN):c.1420G>C (p.Gly474Arg)	GAN (G474R +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 465389	NM_022041.4(GAN):c.1502+1G>T	GAN	Single nucleotide variant (splice donor variant)	See cases +1 more	GPathogenic/Likely pathogenic
Select item 637089	NM_022041.4(GAN):c.1505G>A (p.Trp502Ter)	GAN (W502* +1 more)	Single nucleotide variant (nonsense)	Giant axonal neuropathy 1	GUncertain significance
Select item 637451	NM_022041.4(GAN):c.1553_1554del (p.Phe518fs)	GAN (F518fs +1 more)	Deletion (frameshift variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637535	NM_022041.4(GAN):c.1633C>T (p.Arg545Cys)	GAN (R545C +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 637092	NM_022041.4(GAN):c.1634G>A (p.Arg545His)	GAN (R545H +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GLikely pathogenic
Select item 374635	NM_022041.4(GAN):c.1684C>G (p.Pro562Ala)	GAN (P562A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 637450	NM_022041.4(GAN):c.1709G>A (p.Cys570Tyr)	GAN (C570Y +1 more)	Single nucleotide variant (missense variant)	Giant axonal neuropathy 1	GUncertain significance

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Items: 54