C1850386[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 658302	NM_022041.4(GAN):c.4G>A (p.Ala2Thr)	GAN, LOC130059498 (A2T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1989090	NM_022041.4(GAN):c.6T>G (p.Ala2=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1094983	NM_022041.4(GAN):c.9G>A (p.Glu3=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1375626	NM_022041.4(GAN):c.10G>A (p.Gly4Ser)	GAN, LOC130059498 (G4S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1037987	NM_022041.4(GAN):c.14G>C (p.Ser5Thr)	GAN, LOC130059498 (S5T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 958058	NM_022041.4(GAN):c.14G>A (p.Ser5Asn)	GAN, LOC130059498 (S5N)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 465394	NM_022041.4(GAN):c.17C>T (p.Ala6Val)	GAN, LOC130059498 (A6V)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 157530	NM_022041.4(GAN):c.23C>G (p.Ser8Cys)	GAN, LOC130059498 (S8C)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1385949	NM_022041.4(GAN):c.25G>T (p.Asp9Tyr)	GAN, LOC130059498 (D9Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 1654113	NM_022041.4(GAN):c.27C>T (p.Asp9=)	GAN, LOC130059498	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1922946	NM_022041.4(GAN):c.28C>T (p.Pro10Ser)	GAN, LOC130059498 (P10S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 645135	NM_022041.4(GAN):c.29C>G (p.Pro10Arg)	GAN, LOC130059498 (P10R)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 2126373	NM_022041.4(GAN):c.37G>A (p.Ala13Thr)	GAN, LOC130059498 (A13T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 320649	NM_022041.4(GAN):c.46C>T (p.Leu16=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 1422264	NM_022041.4(GAN):c.47_48delinsAC (p.Leu16His)	GAN, LOC130059498 (L16H)	Indel (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1991576	NM_022041.4(GAN):c.53G>A (p.Arg18Gln)	GAN, LOC130059498 (R18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1617342	NM_022041.4(GAN):c.57G>T (p.Ala19=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1912756	NM_022041.4(GAN):c.60C>G (p.Leu20=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1055925	NM_022041.4(GAN):c.62G>C (p.Ser21Thr)	GAN, LOC130059498 (S21T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1147198	NM_022041.4(GAN):c.63C>T (p.Ser21=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1498640	NM_022041.4(GAN):c.65_66delinsTA (p.Ser22Leu)	GAN, LOC130059498 (S22L)	Indel (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 705288	NM_022041.4(GAN):c.72C>G (p.Arg24=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 320651	NM_022041.4(GAN):c.75G>A (p.Glu25=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1474016	NM_022041.4(GAN):c.80C>G (p.Ser27Cys)	GAN, LOC130059498 (S27C)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 663315	NM_022041.4(GAN):c.82C>G (p.Arg28Gly)	GAN, LOC130059498 (R28G)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 1766176	NM_022041.4(GAN):c.91G>C (p.Asp31His)	GAN, LOC130059498 (D31H)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +1 more	GUncertain significance
Select item 1368271	NM_022041.4(GAN):c.95C>T (p.Ala32Val)	GAN, LOC130059498 (A32V)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 1085134	NM_022041.4(GAN):c.108C>T (p.Leu36=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 533929	NM_022041.4(GAN):c.112G>A (p.Gly38Arg)	GAN, LOC130059498 (G38R)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 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 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 1989095	NM_022041.4(GAN):c.141C>T (p.Ile47=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
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 842136	NM_022041.4(GAN):c.148G>T (p.Ala50Ser)	GAN, LOC130059498 (A50S)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
Select item 261481	NM_022041.4(GAN):c.156C>T (p.Ser52=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 389206	NM_022041.4(GAN):c.159G>T (p.Pro53=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +2 more	GBenign/Likely benign
Select item 2022555	NM_022041.4(GAN):c.162C>T (p.Tyr54=)	GAN, LOC130059498	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GLikely benign
Select item 1998044	NM_022041.4(GAN):c.167G>A (p.Arg56Lys)	GAN, LOC130059498 (R56K)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1	GUncertain significance
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 1058951	NM_022041.4(GAN):c.167+4G>C	GAN, LOC130059498	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GUncertain significance
Select item 2196101	NM_022041.4(GAN):c.167+16C>T	GAN, LOC130059498	Single nucleotide variant (intron variant)	Giant axonal neuropathy 1	GLikely benign
Select item 1550835	NM_022041.4(GAN):c.167+16C>G	GAN, LOC130059498	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 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 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 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 (missense 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 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 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 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 513198	NM_022041.4(GAN):c.237G>A (p.Ser79=)	GAN	Single nucleotide variant (synonymous variant +1 more)	Giant axonal neuropathy 1 +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)	Inborn genetic diseases +1 more	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 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 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 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 1629685	NM_022041.4(GAN):c.282+15_282+18del	GAN	Deletion (intron variant)	Giant axonal neuropathy 1	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 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 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 439752	NM_022041.4(GAN):c.322G>A (p.Ala108Thr)	GAN (A108T)	Single nucleotide variant (5 prime UTR variant +1 more)	Giant axonal neuropathy 1 +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)	Inborn genetic diseases +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 (5 prime UTR 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

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