### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNF170) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "RNF170" "ring finger protein 170" "8" "p11.21" "unknown" "NC_000008.10" "UD_136090674945" "" "https://www.LOVD.nl/RNF170" "" "1" "25358" "81790" "614649" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RNF170_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-04 20:43:02" "00006" "2026-02-25 16:30:57" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017925" "RNF170" "transcript variant 2" "004" "NM_030954.3" "" "NP_112216.3" "" "" "" "-247" "3642" "777" "42751866" "42708437" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "02808" "SNAX1" "ataxia, sensory, type 1, autosomal dominant (SNAX-1)" "AD" "608984" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "07001" "SPG85" "paraplegia, spastic, autosomal recessive, type 85" "AR" "619686" "" "" "" "00006" "2023-02-04 20:42:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "RNF170" "00325" "RNF170" "02808" "RNF170" "07001" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00294637" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00431235" "" "" "" "2" "" "00006" "{PMID:Wagner 2019:31636353}, {PMID:Yepez 2022:35379322}" "3-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "FamAPat4;R31640" "00431236" "" "" "00431235" "1" "" "00006" "{PMID:Wagner 2019:31636353}" "sister" "M" "" "Germany" "" "0" "" "" "" "FamAPat5" "00431237" "" "" "" "4" "" "00006" "{PMID:Wagner 2019:31636353}" "4-generation family, affected brothers/sisters (F, 3M), unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "Baluch" "FamBPat3" "00431238" "" "" "00431237" "1" "" "00006" "{PMID:Wagner 2019:31636353}" "brother" "M" "yes" "Iran" "" "0" "" "" "Baluch" "FamBPat4" "00431239" "" "" "00431237" "1" "" "00006" "{PMID:Wagner 2019:31636353}" "sister" "F" "yes" "Iran" "" "0" "" "" "Baluch" "FamBPat5" "00431240" "" "" "00431237" "1" "" "00006" "{PMID:Wagner 2019:31636353}" "brother" "M" "yes" "Iran" "" "0" "" "" "Baluch" "FamBPat6" "00431241" "" "" "" "2" "" "00006" "{PMID:Wagner 2019:31636353}, {PMID:Yepez 2022:35379322}" "5-generation family, affected nephew/niece, unaffected heterozygous carrier parents" "F" "yes" "Tunisia" "" "0" "" "" "" "FamCPat4;R31640" "00431242" "" "" "" "2" "" "00006" "{PMID:Wagner 2019:31636353}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "Fars" "FamDPat3" "00431243" "" "" "00431242" "1" "" "00006" "{PMID:Wagner 2019:31636353}" "brother" "M" "yes" "Iran" "" "0" "" "" "Fars" "FamDPat4" "00472686" "" "" "" "3" "" "00006" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "family 3 affected" "M" "" "" "" "0" "" "" "" "FamPat08" "00472687" "" "" "" "1" "" "00006" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "relative" "" "" "" "" "0" "" "" "" "FamPat09" "00472688" "" "" "" "1" "" "00006" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "relative" "" "" "" "" "0" "" "" "" "FamPat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00294637" "00198" "00431235" "00325" "00431236" "00325" "00431237" "00325" "00431238" "00325" "00431239" "00325" "00431240" "00325" "00431241" "00325" "00431242" "00325" "00431243" "00325" "00472686" "05618" "00472687" "05618" "00472688" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00325, 02808, 05618, 07001 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000321840" "00325" "00431235" "00006" "Familial, autosomal recessive" "53y" "20y-loss ambulation; normal motor development; no cognitive deficits; mild optic atrophy; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; no ataxia; mild cervical dystonia; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; 30y-lower limbs no cortical potential" "3y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321841" "00325" "00431236" "00006" "Familial, autosomal recessive" "34y" "22y-loss ambulation; normal motor development; no cognitive deficits; saccadic pursuit; no dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, proximal lower limb weakness; no muscle atrophy; extensor plantar response; vibration/surface/temperature deficits; no ataxia; no extrapyramidal involvement; urinary urgency or incontinence, no fecal urgency or incontinence; axonal polyneuropathy; motor evoked potentials upper limbs normal/lower limbs reduced cortical amplitudes; 33y-upper limbs prolonged central latency, lower limbs no cortical potential; MRI cranium/cervical spine normal" "5y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321842" "00325" "00431237" "00006" "Familial, autosomal recessive" "12y" "11.5y-loss ambulation; delayed motor development; no cognitive deficits; severe optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; generalized, severe muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI significant cerebellar atrophy" "2y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321843" "00325" "00431238" "00006" "Familial, autosomal recessive" "11y" "still walking; delayed motor development; no cognitive deficits; moderate optic atrophy; no oculomotor abnormalities; dysarthria, dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, distal lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia upper limb and gait; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; visually evoked potentials normal; MRI cerebellar atrophy" "2y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321844" "00325" "00431239" "00006" "Familial, autosomal recessive" "7y" "still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; visually evoked potentials normal; MRI normal" "2y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321845" "00325" "00431240" "00006" "Familial, autosomal recessive" "4y" "still walking; delayed motor development; no cognitive deficits; mild optic atrophy; no oculomotor abnormalities; dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, no lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence" "2y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321846" "00325" "00431241" "00006" "Familial, autosomal recessive" "4y" "still walking; delayed motor development; no cognitive deficits; no oculomotor abnormalities; no dysarthria, no dysphagia; no spasticity upper limbs, spasticity lower limbs; normal upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; no extensor plantar response; no sensory deficits; no ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; normal sensory evoked potentials; MRI cranium/cervical spine normal" "2y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321847" "00325" "00431242" "00006" "Familial, autosomal recessive" "17y" "still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal" "3y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000321848" "00325" "00431243" "00006" "Familial, autosomal recessive" "23y" "still walking; normal motor development; no cognitive deficits; optic atrophy; saccadic pursuit; dysarthria, no dysphagia; spasticity upper limbs, spasticity lower limbs; brisk upper limb tendon reflexes, brisk lower limb tendon reflexes; no upper limb weakness, lower limb weakness; no muscle atrophy; extensor plantar response; no sensory deficits; ataxia; no extrapyramidal involvement; no urinary/fecal urgency or incontinence; normal nerve conduction studies; increased p100 latency and reduced amplitude; MRI normal" "3y" "" "" "" "" "" "" "" "SPG85" "spastic paraplegia" "" "0000357483" "05618" "00472686" "00006" "Familial, autosomal recessive" "" "spastic paraplegia" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000357484" "05618" "00472687" "00006" "Familial, autosomal recessive" "" "spastic paraplegia" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000357485" "05618" "00472688" "00006" "Familial, autosomal recessive" "" "spastic paraplegia" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295805" "00294637" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000432649" "00431235" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432650" "00431236" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432651" "00431237" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432652" "00431238" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432653" "00431239" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432654" "00431240" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432655" "00431241" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432656" "00431242" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432657" "00431243" "1" "00006" "00006" "2023-02-04 20:45:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000474355" "00472686" "1" "00006" "00006" "2026-02-25 16:30:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "whole blood" "WGS" "0000474356" "00472687" "1" "00006" "00006" "2026-02-25 16:30:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "whole blood" "WGS" "0000474357" "00472688" "1" "00006" "00006" "2026-02-25 16:30:53" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "whole blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 34 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000294880" "0" "10" "8" "42720581" "42720581" "subst" "0.00485141" "02330" "RNF170_000003" "g.42720581C>T" "" "" "" "RNF170(NM_001160223.1):c.374G>A (p.S125N), RNF170(NM_001160223.2):c.374G>A (p.S125N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42865438C>T" "" "benign" "" "0000294881" "0" "30" "8" "42705987" "42705987" "subst" "3.35845E-5" "02330" "RNF170_000001" "g.42705987G>A" "" "" "" "RNF170(NM_001160224.2):c.550C>T (p.R184C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42850844G>A" "" "likely benign" "" "0000307163" "0" "10" "8" "42725178" "42725178" "subst" "0.00446207" "01943" "RNF170_000005" "g.42725178C>T" "" "" "" "RNF170(NM_001160223.1):c.291G>A (p.P97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42870035C>T" "" "benign" "" "0000307164" "0" "10" "8" "42725134" "42725134" "subst" "0.00755144" "01943" "RNF170_000004" "g.42725134G>A" "" "" "" "RNF170(NM_001160223.1):c.322+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42869991G>A" "" "benign" "" "0000307165" "0" "30" "8" "42720581" "42720581" "subst" "0.00485141" "01943" "RNF170_000003" "g.42720581C>T" "" "" "" "RNF170(NM_001160223.1):c.374G>A (p.S125N), RNF170(NM_001160223.2):c.374G>A (p.S125N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42865438C>T" "" "likely benign" "" "0000534850" "0" "10" "8" "42706014" "42706014" "subst" "0.00401037" "02330" "RNF170_000006" "g.42706014C>T" "" "" "" "RNF170(NM_001160224.1):c.523G>A (p.D175N), RNF170(NM_001160224.2):c.523G>A (p.D175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42850871C>T" "" "benign" "" "0000534851" "0" "10" "8" "42706014" "42706014" "subst" "0.00401037" "01943" "RNF170_000006" "g.42706014C>T" "" "" "" "RNF170(NM_001160224.1):c.523G>A (p.D175N), RNF170(NM_001160224.2):c.523G>A (p.D175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42850871C>T" "" "benign" "" "0000534853" "0" "50" "8" "42711384" "42711384" "subst" "0" "02327" "RNF170_000008" "g.42711384T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42856241T>C" "" "VUS" "" "0000534854" "0" "30" "8" "42717020" "42717020" "dup" "0" "02330" "RNF170_000009" "g.42717020dup" "" "" "" "RNF170(NM_001160223.1):c.397-14dupT, RNF170(NM_001160223.2):c.397-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42861877dup" "" "likely benign" "" "0000534855" "0" "30" "8" "42717020" "42717020" "dup" "0" "01943" "RNF170_000009" "g.42717020dup" "" "" "" "RNF170(NM_001160223.1):c.397-14dupT, RNF170(NM_001160223.2):c.397-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42861877dup" "" "likely benign" "" "0000534856" "0" "50" "8" "42742895" "42742895" "subst" "0.00115334" "01943" "RNF170_000010" "g.42742895G>A" "" "" "" "RNF170(NM_001160223.1):c.113C>T (p.A38V), RNF170(NM_001160223.2):c.113C>T (p.A38V), RNF170(NM_030954.4):c.113C>T (p.(Ala38Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42887752G>A" "" "VUS" "" "0000534857" "0" "30" "8" "42742895" "42742895" "subst" "0.00115334" "02325" "RNF170_000010" "g.42742895G>A" "" "" "" "RNF170(NM_001160223.1):c.113C>T (p.A38V), RNF170(NM_001160223.2):c.113C>T (p.A38V), RNF170(NM_030954.4):c.113C>T (p.(Ala38Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42887752G>A" "" "likely benign" "" "0000652494" "1" "70" "8" "42711439" "42711439" "subst" "0.000240086" "03575" "RNF170_000011" "g.42711439T>C" "9/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs587780441}" "Germline" "" "rs587780441" "0" "" "" "g.42856296T>C" "" "likely pathogenic" "" "0000678389" "0" "50" "8" "42711483" "42711483" "subst" "7.16756E-5" "01943" "RNF170_000012" "g.42711483C>T" "" "" "" "RNF170(NM_001160223.1):c.596G>A (p.R199H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721999" "0" "50" "8" "42706048" "42706048" "subst" "0" "02329" "RNF170_000007" "g.42706048G>A" "" "" "" "RNF170(NM_001160224.1):c.489C>T (p.V163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918199" "3" "90" "8" "42720556" "42720556" "subst" "4.06745E-6" "00006" "RNF170_000013" "g.42720556T>C" "" "{PMID:Wagner 2019:31636353}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42865413T>C" "" "pathogenic (recessive)" "" "0000918200" "3" "90" "8" "42720556" "42720556" "subst" "4.06745E-6" "00006" "RNF170_000013" "g.42720556T>C" "" "{PMID:Wagner 2019:31636353}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42865413T>C" "" "pathogenic (recessive)" "" "0000918201" "3" "90" "8" "42725165" "42725165" "subst" "4.06326E-6" "00006" "RNF170_000016" "g.42725165A>G" "" "{PMID:Wagner 2019:31636353}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42870022A>G" "" "pathogenic (recessive)" "" "0000918202" "3" "90" "8" "42725165" "42725165" "subst" "4.06326E-6" "00006" "RNF170_000016" "g.42725165A>G" "" "{PMID:Wagner 2019:31636353}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42870022A>G" "" "pathogenic (recessive)" "" "0000918203" "3" "90" "8" "42725165" "42725165" "subst" "4.06326E-6" "00006" "RNF170_000016" "g.42725165A>G" "" "{PMID:Wagner 2019:31636353}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42870022A>G" "" "pathogenic (recessive)" "" "0000918204" "3" "90" "8" "42725165" "42725165" "subst" "4.06326E-6" "00006" "RNF170_000016" "g.42725165A>G" "" "{PMID:Wagner 2019:31636353}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42870022A>G" "" "pathogenic (recessive)" "" "0000918205" "3" "90" "8" "42704626" "42729012" "delins" "0" "00006" "RNF170_000014" "g.42704626_42729012delinsTTTTGGT" "" "{PMID:Wagner 2019:31636353}, {PMID:Yepez 2022:35379322}" "" "del ex4-7, chr8:g.42704626_42729012delinsTTTTGGT" "" "Germline" "yes" "" "0" "" "" "g.42849483_42873869delinsTTTTGGT" "" "pathogenic (recessive)" "" "0000918206" "3" "90" "8" "42711564" "42711565" "del" "0" "00006" "RNF170_000015" "g.42711564_42711565del" "" "{PMID:Wagner 2019:31636353}" "" "518_519delAG" "" "Germline" "yes" "" "0" "" "" "g.42856421_42856422del" "" "pathogenic (recessive)" "" "0000918207" "3" "90" "8" "42711564" "42711565" "del" "0" "00006" "RNF170_000015" "g.42711564_42711565del" "" "{PMID:Wagner 2019:31636353}" "" "518_519delAG" "" "Germline" "yes" "" "0" "" "" "g.42856421_42856422del" "" "pathogenic (recessive)" "" "0000929449" "0" "10" "8" "42752308" "42752308" "subst" "0" "02330" "HOOK3_000015" "g.42752308C>T" "" "" "" "HOOK3(NM_032410.4):c.34C>T (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997197" "0" "30" "8" "42706129" "42706131" "del" "3.37966E-5" "01804" "RNF170_000017" "g.42706129_42706131del" "" "" "" "RNF170(NM_001160224.1):c.406_408delGAG (p.(Glu136del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025522" "0" "50" "8" "42729074" "42729074" "subst" "0" "02325" "RNF170_000018" "g.42729074C>G" "" "" "" "RNF170(NM_001160223.2):c.213G>C (p.Q71H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025523" "0" "50" "8" "42729076" "42729076" "subst" "0" "01943" "RNF170_000019" "g.42729076G>A" "" "" "" "RNF170(NM_001160223.1):c.211C>T (p.Q71*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036976" "0" "30" "8" "42711517" "42711517" "subst" "0.00932642" "01804" "RNF170_000020" "g.42711517T>C" "" "" "" "RNF170(NM_030954.4):c.562A>G (p.(Met188Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036977" "0" "30" "8" "42742895" "42742895" "subst" "0.00115334" "01804" "RNF170_000010" "g.42742895G>A" "" "" "" "RNF170(NM_001160223.1):c.113C>T (p.A38V), RNF170(NM_001160223.2):c.113C>T (p.A38V), RNF170(NM_030954.4):c.113C>T (p.(Ala38Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036978" "0" "30" "8" "42743021" "42743021" "subst" "0" "01804" "RNF170_000021" "g.42743021T>G" "" "" "" "RNF170(NM_030954.4):c.-7-7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001068668" "3" "90" "8" "42720559" "42720559" "subst" "4.06745E-6" "00006" "RNF170_000022" "g.42720559C>T" "" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "" "" "exon 5 skipping" "Germline" "" "" "0" "" "" "g.42865416C>T" "" "pathogenic (recessive)" "" "0001068669" "3" "90" "8" "42720559" "42720559" "subst" "4.06745E-6" "00006" "RNF170_000022" "g.42720559C>T" "" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "" "" "exon 5 skipping" "Germline" "" "" "0" "" "" "g.42865416C>T" "" "pathogenic (recessive)" "" "0001068670" "3" "90" "8" "42720559" "42720559" "subst" "4.06745E-6" "00006" "RNF170_000022" "g.42720559C>T" "" "{DOI:Yepez 2026:10.64898/2026.02.10.26345954}" "" "" "exon 5 skipping" "Germline" "" "" "0" "" "" "g.42865416C>T" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RNF170 ## Count = 34 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000294880" "00017925" "10" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Ser125Asn)" "" "0000294881" "00017925" "30" "6092" "0" "6092" "0" "c.*5315C>T" "r.(=)" "p.(=)" "" "0000307163" "00017925" "10" "291" "0" "291" "0" "c.291G>A" "r.(?)" "p.(Pro97=)" "" "0000307164" "00017925" "10" "322" "13" "322" "13" "c.322+13C>T" "r.(=)" "p.(=)" "" "0000307165" "00017925" "30" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Ser125Asn)" "" "0000534850" "00017925" "10" "6065" "0" "6065" "0" "c.*5288G>A" "r.(=)" "p.(=)" "" "0000534851" "00017925" "10" "6065" "0" "6065" "0" "c.*5288G>A" "r.(=)" "p.(=)" "" "0000534853" "00017925" "50" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(Asp232Gly)" "" "0000534854" "00017925" "30" "397" "-14" "397" "-14" "c.397-14dup" "r.(=)" "p.(=)" "" "0000534855" "00017925" "30" "397" "-14" "397" "-14" "c.397-14dup" "r.(=)" "p.(=)" "" "0000534856" "00017925" "50" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" "0000534857" "00017925" "30" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" "0000652494" "00017925" "70" "640" "0" "640" "0" "c.640A>G" "r.(?)" "p.(Ile214Val)" "" "0000678389" "00017925" "50" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "" "0000721999" "00017925" "50" "6031" "0" "6031" "0" "c.*5254C>T" "r.(=)" "p.(=)" "" "0000918199" "00017925" "90" "396" "3" "396" "3" "c.396+3A>G" "r.323_396del" "p.Ala109AsnfsTer9" "" "0000918200" "00017925" "90" "396" "3" "396" "3" "c.396+3A>G" "r.323_396del" "p.Ala109AsnfsTer9" "" "0000918201" "00017925" "90" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Cys102Arg)" "" "0000918202" "00017925" "90" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Cys102Arg)" "" "0000918203" "00017925" "90" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Cys102Arg)" "" "0000918204" "00017925" "90" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Cys102Arg)" "" "0000918205" "00017925" "90" "0" "0" "0" "0" "c.213+62_*2865{0}" "r.?" "p.?" "" "0000918206" "00017925" "90" "518" "0" "519" "0" "c.518_519del" "r.(?)" "p.(Arg173AsnfsTer49)" "" "0000918207" "00017925" "90" "518" "0" "519" "0" "c.518_519del" "r.(?)" "p.(Arg173AsnfsTer49)" "" "0000929449" "00017925" "10" "-689" "0" "-689" "0" "c.-689G>A" "r.(?)" "p.(=)" "" "0000997197" "00017925" "30" "5948" "0" "5950" "0" "c.*5171_*5173del" "r.(=)" "p.(=)" "" "0001025522" "00017925" "50" "213" "0" "213" "0" "c.213G>C" "r.(?)" "p.(Gln71His)" "" "0001025523" "00017925" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Gln71*)" "" "0001036976" "00017925" "30" "562" "0" "562" "0" "c.562A>G" "r.(?)" "p.(Met188Val)" "" "0001036977" "00017925" "30" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" "0001036978" "00017925" "30" "-7" "-7" "-7" "-7" "c.-7-7A>C" "r.(=)" "p.(=)" "" "0001068668" "00017925" "90" "396" "0" "396" "0" "c.396G>A" "r.323_396del" "p.Ala109AsnfsTer9" "" "0001068669" "00017925" "90" "396" "0" "396" "0" "c.396G>A" "r.323_396del" "p.Ala109AsnfsTer9" "" "0001068670" "00017925" "90" "396" "0" "396" "0" "c.396G>A" "r.323_396del" "p.Ala109AsnfsTer9" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000295805" "0000652494" "0000432649" "0000918199" "0000432650" "0000918200" "0000432651" "0000918201" "0000432652" "0000918202" "0000432653" "0000918203" "0000432654" "0000918204" "0000432655" "0000918205" "0000432656" "0000918206" "0000432657" "0000918207" "0000474355" "0001068668" "0000474356" "0001068669" "0000474357" "0001068670"