Total 15 pathogenic variants reported for Congenital sensory neuropathy with selective loss of small myelinated fibers

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002506.3(NGF):c.661C>T (p.Arg221Trp)	SNV Germline	Chr1:115286135	Likely pathogenic	Congenital sensory neuropathy with selective loss of small myelinated fibers not specified	Criteria Provided Single Submitter	CA123732	rs_11466112	2 SubmittersRCV000015089 RCV003989104
NM_002506.3(NGF):c.247C>T (p.Arg83Cys)	SNV Germline	Chr1:115286549	Conflicting classifications of pathogenicity	Condition: not provided Congenital sensory neuropathy with selective loss of small myelinated fibers Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1023013	rs_138175552	9 SubmittersRCV000235572 RCV000631359 RCV002450719
NM_002506.3(NGF):c.-13+14G>A	SNV Germline	Chr1:115293613	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers not specified	Criteria Provided Conflicting Classifications	CA10607528	rs_553442923	2 SubmittersRCV000383246 RCV000430743
NM_002506.3(NGF):c.477G>A (p.Val159=)	SNV Germline	Chr1:115286319	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers	Criteria Provided Conflicting Classifications	CA10607709	rs_886045115	2 SubmittersRCV000300728
NM_002506.3(NGF):c.191C>T (p.Ala64Val)	SNV Germline	Chr1:115286605	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1023034	rs_201087374	4 SubmittersRCV000531393 RCV000597730 RCV002413447
NM_002506.3(NGF):c.170C>T (p.Ala57Val)	SNV Germline	Chr1:115286626	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1023048	rs_770647680	2 SubmittersRCV000547214 RCV002404377
NM_002506.3(NGF):c.93C>G (p.Thr31=)	SNV Germline	Chr1:115286703	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers	Criteria Provided Conflicting Classifications	CA29767767	rs_1014644520	2 SubmittersRCV000631365
NM_002506.3(NGF):c.174G>A (p.Ala58=)	SNV Germline	Chr1:115286622	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers NGF-related disorder	Criteria Provided Conflicting Classifications	CA1023045	rs_147326889	3 SubmittersRCV000631364 RCV004547776
NM_002506.3(NGF):c.165G>A (p.Pro55=)	SNV Germline	Chr1:115286631	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers	Criteria Provided Conflicting Classifications	CA1023051	rs_149876217	2 SubmittersRCV000631366
NM_001349253.2(SCN11A):c.2423C>A (p.Ala808Asp)	SNV Germline	Chr3:38894945	Likely pathogenic	Congenital sensory neuropathy with selective loss of small myelinated fibers	Criteria Provided Single Submitter	CA352175178	rs_483352921	1 SubmittersRCV000991311
NM_002506.3(NGF):c.552C>T (p.Pro184=)	SNV Germline	Chr1:115286244	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers	Criteria Provided Conflicting Classifications	CA1022955	rs_532714783	2 SubmittersRCV001099075
NM_002506.3(NGF):c.43G>A (p.Gly15Ser)	SNV Germline	Chr1:115286753	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1023077	rs_181255687	3 SubmittersRCV001101152 RCV002327385
NM_002506.3(NGF):c.553G>A (p.Val185Ile)	SNV Germline	Chr1:115286243	Conflicting classifications of pathogenicity	Congenital sensory neuropathy with selective loss of small myelinated fibers Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1022954	rs_141889164	2 SubmittersRCV002193518 RCV002346538
NM_002506.3(NGF):c.241C>T (p.Arg81Ter)	SNV Germline	Chr1:115286555	Pathogenic	Congenital sensory neuropathy with selective loss of small myelinated fibers	Criteria Provided Single Submitter	CA341836965	rs_753382007	1 SubmittersRCV002606031