Total 73 pathogenic variants reported for Giant axonal neuropathy 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) SNV
Germline		 Chr16:81365432 Pathogenic/Likely pathogenic Giant axonal neuropathy 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253390 rs_119485088

5 SubmittersRCV000005333RCV002390092
NM_022041.4(GAN):c.1447C>T (p.Gln483Ter) SNV
Germline		 Chr16:81365423 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 No Assertion Criteria Provided
 CA253392 rs_119485089

2 SubmittersRCV000005334
NM_022041.4(GAN):c.601C>T (p.Arg201Ter) SNV
Germline		 Chr16:81354723 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 CA253395 rs_119485090

3 SubmittersRCV000005336
NM_022041.4(GAN):c.413G>A (p.Arg138His) SNV
Germline		 Chr16:81354535 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 CA253400 rs_119485092

4 SubmittersRCV000005338
NM_022041.4(GAN):c.43C>A (p.Arg15Ser) SNV
Germline		 Chr16:81315156 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 No Assertion Criteria Provided
 CA253402 rs_119485093

2 SubmittersRCV000005339
NM_022041.4(GAN):c.1429C>T (p.Arg477Ter) SNV
Germline		 Chr16:81365405 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 No Assertion Criteria Provided
 CA253404 rs_119485094

2 SubmittersRCV000005340
NM_022041.4(GAN):c.505G>A (p.Glu169Lys) SNV
Germline		 Chr16:81354627 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 No Assertion Criteria Provided
 CA253407 rs_119485095

2 SubmittersRCV000005341
NM_022041.4(GAN):c.730A>G (p.Ile244Val) SNV
Germline		 Chr16:81356881 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases
Charcot-Marie-Tooth disease
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA270932 rs_200749953

6 SubmittersRCV000295442RCV002381452RCV000144871RCV000859286
NM_022041.4(GAN):c.851+1G>A SNV
Germline		 Chr16:81357003 Pathogenic/Likely pathogenic Condition: not provided
not specified
Giant axonal neuropathy 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8191503 rs_747291494

6 SubmittersRCV000235982RCV000506058RCV000763387RCV002444938
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) SNV
Germline		 Chr16:81357902 Conflicting classifications of pathogenicity Condition: not provided
Giant axonal neuropathy 1
Inborn genetic diseases
Giant axonal neuropathy		 Criteria Provided
Conflicting Classifications
 CA8191540 rs_144486241

6 SubmittersRCV000236891RCV000396992RCV002374390RCV003320356
NM_022041.4(GAN):c.283-14T>C SNV
Germline		 Chr16:81354391 Conflicting classifications of pathogenicity not specified
Giant axonal neuropathy 1		 Criteria Provided
Conflicting Classifications
 CA8191332 rs_369700456

4 SubmittersRCV000246868RCV000349001
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) SNV
Germline		 Chr16:81365421 Conflicting classifications of pathogenicity Condition: not provided
Giant axonal neuropathy 1
Inborn genetic diseases
GAN-related disorder		 Criteria Provided
Conflicting Classifications
 CA8191766 rs_146576740

7 SubmittersRCV000755274RCV000999842RCV002392781RCV003920024
NM_022041.4(GAN):c.1162C>T (p.Leu388=) SNV
Germline		 Chr16:81363869 Conflicting classifications of pathogenicity Condition: not provided
Giant axonal neuropathy 1
Inborn genetic diseases
GAN-related disorder		 Criteria Provided
Conflicting Classifications
 CA8191637 rs_73589395

6 SubmittersRCV000726330RCV001087132RCV002356393RCV003967789
NM_022041.4(GAN):c.75G>A (p.Glu25=) SNV
Germline		 Chr16:81315188 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8191246 rs_754548795

4 SubmittersRCV000374300RCV002392868
NM_022041.4(GAN):c.801A>G (p.Lys267=) SNV
Germline		 Chr16:81356952 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8191486 rs_746799355

3 SubmittersRCV000345753RCV002418171
NM_022041.4(GAN):c.974-11G>C SNV
Germline		 Chr16:81362488 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 Criteria Provided
Conflicting Classifications
 CA8191570 rs_753746307

2 SubmittersRCV000310694
NM_022041.4(GAN):c.*1268C>T SNV
Germline		 Chr16:81378864 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10638444 rs_182391687

2 SubmittersRCV000341664RCV002510853
NM_022041.4(GAN):c.132G>A (p.Gln44=) SNV
Germline		 Chr16:81315245 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8191256 rs_774609110

2 SubmittersRCV000294110RCV002379196
NM_022041.4(GAN):c.444C>T (p.His148=) SNV
Germline		 Chr16:81354566 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8191369 rs_764605890

3 SubmittersRCV000402535RCV002328834
NM_022041.4(GAN):c.1518C>T (p.Asn506=) SNV
Germline		 Chr16:81377234 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10649019 rs_886052333

4 SubmittersRCV000302672RCV002392869RCV003422273
NM_022041.4(GAN):c.1612+12A>G SNV
Germline		 Chr16:81377340 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
not specified
Condition: not provided
GAN-related disorder		 Criteria Provided
Conflicting Classifications
 CA8191822 rs_150344737

7 SubmittersRCV000362071RCV000433445RCV001699366RCV003920360
NM_022041.4(GAN):c.355A>T (p.Thr119Ser) SNV
Germline		 Chr16:81354477 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8191356 rs_141396595

4 SubmittersRCV000874825RCV001507350RCV002455949
NM_022041.4(GAN):c.1502+1G>T SNV
Germline		 Chr16:81365479 Pathogenic/Likely pathogenic Giant axonal neuropathy 1
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396891532 rs_1555511978

5 SubmittersRCV000542728RCV002287422
NM_022041.4(GAN):c.374T>C (p.Leu125Ser) SNV
Germline		 Chr16:81354496 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 CA396867827 rs_1555511093

1 SubmittersRCV000533057
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) SNV
Germline		 Chr16:81356957 Conflicting classifications of pathogenicity Inborn genetic diseases
Giant axonal neuropathy 1		 Criteria Provided
Conflicting Classifications
 CA8191489 rs_759581558

5 SubmittersRCV000623340RCV000789766
NM_022041.4(GAN):c.805C>T (p.Arg269Trp) SNV
Germline		 Chr16:81356956 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_776397915

5 SubmittersRCV000707568RCV002406651RCV004822187
NM_022041.4(GAN):c.994G>A (p.Gly332Arg) SNV
Germline		 Chr16:81362519 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Peripheral neuropathy		 Criteria Provided
Conflicting Classifications
 rs_1567494825

4 SubmittersRCV000701417RCV001814221
NM_022041.4(GAN):c.890C>T (p.Pro297Leu) SNV
Germline		 Chr16:81357848 Likely pathogenic Giant axonal neuropathy 1 No Assertion Criteria Provided
 rs_771785420

1 SubmittersRCV000735275
NM_022041.4(GAN):c.484C>T (p.Arg162Ter) SNV
Germline		 Chr16:81354606 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_1300267158

3 SubmittersRCV000789758
NM_022041.4(GAN):c.877C>T (p.Arg293Ter) SNV
Germline		 Chr16:81357835 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_370358470

3 SubmittersRCV000789764
NM_022041.4(GAN):c.1012A>T (p.Lys338Ter) SNV
Germline		 Chr16:81362537 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_1181977802

3 SubmittersRCV000789769
NM_022041.4(GAN):c.1634G>A (p.Arg545His) SNV
Germline		 Chr16:81377436 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_746486469

3 SubmittersRCV000789127
NM_022041.4(GAN):c.973+6G>A SNV
Germline		 Chr16:81357937 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Condition: not provided
Inborn genetic diseases
GAN-related disorder		 Criteria Provided
Conflicting Classifications
 rs_372665411

5 SubmittersRCV000820002RCV001564066RCV002381858RCV003955530
NM_022041.4(GAN):c.1373+1G>A SNV
Germline		 Chr16:81365111 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_1597407138

1 SubmittersRCV000850555
NM_022041.4(GAN):c.1323T>C (p.Tyr441=) SNV
Germline		 Chr16:81365060 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_368072478

4 SubmittersRCV000865457RCV001532284
NM_022041.4(GAN):c.1017G>A (p.Gln339=) SNV
Germline		 Chr16:81362542 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 Criteria Provided
Conflicting Classifications
 rs_201451382

2 SubmittersRCV000873414
NM_022041.4(GAN):c.634-6C>T SNV
Germline		 Chr16:81356779 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 Criteria Provided
Conflicting Classifications
 rs_199874705

2 SubmittersRCV001119554
NM_022041.4(GAN):c.633+1G>A SNV
Unknown		 Chr16:81354756 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_1597401738

1 SubmittersRCV001095725
NM_022041.4(GAN):c.471G>A (p.Leu157=) SNV
Germline		 Chr16:81354593 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 Criteria Provided
Conflicting Classifications
 rs_143704621

2 SubmittersRCV001119552
NM_022041.4(GAN):c.283-15A>G SNV
Germline		 Chr16:81354390 Conflicting classifications of pathogenicity Giant axonal neuropathy 1 Criteria Provided
Conflicting Classifications
 rs_754182168

2 SubmittersRCV001119550
NM_022041.4(GAN):c.307C>T (p.Gln103Ter) SNV
Germline		 Chr16:81354429 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_1313883569

1 SubmittersRCV002035230
NM_022041.4(GAN):c.1485C>A (p.Tyr495Ter) SNV
Germline		 Chr16:81365461 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_2150691981

1 SubmittersRCV001380856
NM_022041.4(GAN):c.1402A>G (p.Met468Val) SNV
Germline		 Chr16:81365378 Conflicting classifications of pathogenicity Giant axonal neuropathy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_375408288

2 SubmittersRCV001924044RCV004044246
NM_022041.4(GAN):c.974-2A>G SNV
Germline		 Chr16:81362497 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_2150690183

1 SubmittersRCV002045325
NM_022041.4(GAN):c.502G>T (p.Glu168Ter) SNV
Germline		 Chr16:81354624 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_776404697

1 SubmittersRCV001922180
NM_022041.4(GAN):c.852-1G>T SNV
Germline		 Chr16:81357809 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_1408504352

1 SubmittersRCV002022298
NM_022041.4(GAN):c.202G>T (p.Gly68Ter) SNV
Germline		 Chr16:81351617 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter
 rs_2150683817

1 SubmittersRCV002244231
NM_022041.4(GAN):c.918G>A (p.Trp306Ter) SNV
Germline		 Chr16:81357876 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV002283841
NM_022041.4(GAN):c.1182C>A (p.Tyr394Ter) SNV
Germline		 Chr16:81363889 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV002819476
NM_022041.4(GAN):c.1191T>A (p.Tyr397Ter) SNV
Germline		 Chr16:81363898 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV002891149
NM_022041.4(GAN):c.215A>T (p.Lys72Met) SNV
Germline		 Chr16:81351630 Pathogenic Giant axonal neuropathy 1 No Assertion Criteria Provided

1 SubmittersRCV003129575
NM_022041.4(GAN):c.1387G>A (p.Ala463Thr) SNV
Germline		 Chr16:81365363 Pathogenic Giant axonal neuropathy 1 No Assertion Criteria Provided

1 SubmittersRCV003129576
NM_022041.4(GAN):c.1670C>G (p.Thr557Ser) SNV
Germline		 Chr16:81377472 Pathogenic Giant axonal neuropathy 1 No Assertion Criteria Provided

1 SubmittersRCV003129577
NM_022041.4(GAN):c.282+2T>A SNV
Germline		 Chr16:81351699 Likely pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV003505647
NM_022041.4(GAN):c.582T>A (p.Tyr194Ter) SNV
Germline		 Chr16:81354704 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV003613143
NM_022041.4(GAN):c.384C>A (p.Cys128Ter) SNV
Germline		 Chr16:81354506 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV003613457
NM_022041.4(GAN):c.118G>T (p.Glu40Ter) SNV
Germline		 Chr16:81315231 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV003611153
NM_022041.4(GAN):c.1182C>G (p.Tyr394Ter) SNV
Germline		 Chr16:81363889 Pathogenic Giant axonal neuropathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV003850021