### 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" "00000" "2025-05-05 21:14:00" ## 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 = 4 "{{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" "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 = 10 "{{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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00294637" "00198" "00431235" "00325" "00431236" "00325" "00431237" "00325" "00431238" "00325" "00431239" "00325" "00431240" "00325" "00431241" "00325" "00431242" "00325" "00431243" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00325, 02808, 07001 ## Count = 9 "{{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" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" ## 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 = 31 "{{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" "" ## 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 = 31 "{{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.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000295805" "0000652494" "0000432649" "0000918199" "0000432650" "0000918200" "0000432651" "0000918201" "0000432652" "0000918202" "0000432653" "0000918203" "0000432654" "0000918204" "0000432655" "0000918205" "0000432656" "0000918206" "0000432657" "0000918207"