Total 19 pathogenic variants reported for Amyotrophic neuralgia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) SNV
Germline		 Chr17:77402298 Pathogenic Amyotrophic neuralgia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340468 rs_80338761

12 SubmittersRCV000006221RCV000516514RCV004018574
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe) SNV
Germline		 Chr17:77402314 Pathogenic Amyotrophic neuralgia No Assertion Criteria Provided
 CA340470 rs_80338762

2 SubmittersRCV000006222
NM_001113491.2(SEPTIN9):c.76+12996G>C SNV
Germline		 Chr17:77320193 Pathogenic Amyotrophic neuralgia No Assertion Criteria Provided
 CA340472 rs_80338760

2 SubmittersRCV000006223
NM_001113491.2(SEPTIN9):c.76+12764G>A SNV
Germline		 Chr17:77319961 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10640754 rs_769442066

2 SubmittersRCV000368739RCV002263033
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) SNV
Germline		 Chr17:77402520 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8793236 rs_199861986

3 SubmittersRCV000406675RCV000857024RCV000857025RCV003153559
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn) SNV
Germline		 Chr17:77487552 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8793637 rs_201560726

3 SubmittersRCV000359029RCV002229873
NM_001113491.2(SEPTIN9):c.442C>T (p.Arg148Trp) SNV
Germline		 Chr17:77402424 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided
SEPTIN9-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8793210 rs_544797046

6 SubmittersRCV000296085RCV002229959RCV003940291RCV004021715
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) SNV
Germline		 Chr17:77402692 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided
not specified
Inborn genetic diseases
SEPTIN9-related disorder		 Criteria Provided
Conflicting Classifications
 CA8793269 rs_200031107

10 SubmittersRCV000365616RCV000890177RCV001795945RCV004021716RCV003940292
NM_001113491.2(SEPTIN9):c.*903C>T SNV
Germline		 Chr17:77499561 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10650321 rs_886053495

2 SubmittersRCV000281150RCV003418028
NM_001113491.2(SEPTIN9):c.*1639C>G SNV
Germline		 Chr17:77500297 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10650332 rs_539303139

2 SubmittersRCV000268507RCV003418029
NM_001113491.2(SEPTIN9):c.519C>T (p.Pro173=) SNV
Germline		 Chr17:77402501 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA8793230 rs_763954299

3 SubmittersRCV000348786RCV002229872RCV004701415
NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=) SNV
Germline		 Chr17:77490799 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8793761 rs_772005682

2 SubmittersRCV000389410RCV003153560
NM_001113491.2(SEPTIN9):c.1063C>T (p.Arg355Trp) SNV
Germline		 Chr17:77488260 Conflicting classifications of pathogenicity Condition: not provided
Amyotrophic neuralgia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_199557573

5 SubmittersRCV000933682RCV002245757RCV004029604
NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn) SNV
Germline		 Chr17:77402128 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_549141429

3 SubmittersRCV001126465RCV001355665
NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met) SNV
Germline		 Chr17:77482329 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_367749123

3 SubmittersRCV001122816RCV002240654RCV004032241
NM_001113491.2(SEPTIN9):c.1699G>A (p.Glu567Lys) SNV
Germline		 Chr17:77498596 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_201409034

4 SubmittersRCV001128626RCV002240907RCV004032279
NM_001113491.2(SEPTIN9):c.1124+8C>T SNV
Germline		 Chr17:77488329 Conflicting classifications of pathogenicity Amyotrophic neuralgia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_775763949

2 SubmittersRCV001123903RCV003660850