### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC9A3R2)
# 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}}"
"SLC9A3R2" "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2" "16" "p13.3" "unknown" "NC_000016.9" "UD_136091720960" "" "http://www.LOVD.nl/NHERF2" "" "1" "11076" "9351" "606553" "1" "1" "1" "1" "NOTE: gene name changed from SLC9A3R2 to NHERF2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC9A3R2_codingDNA.html" "1" "" "NOTE: gene name changed from SLC9A3R2 to NHERF2" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-02 20:10:58" "00000" "2025-07-08 13:22:38"
## 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}}"
"00019079" "SLC9A3R2" "transcript variant 1" "001" "NM_001130012.2" "" "NP_001123484.1" "" "" "" "-138" "2056" "1014" "2076869" "2089027" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 0
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## 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 = 22
"{{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}}"
"0000293268" "0" "30" "16" "2089906" "2089906" "subst" "0.000196507" "02330" "NTHL1_000002" "g.2089906G>A" "" "" "" "NTHL1(NM_002528.7):c.*19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2039905G>A" "" "likely benign" ""
"0000293273" "0" "30" "16" "2093743" "2093743" "subst" "2.05866E-5" "02330" "NTHL1_000004" "g.2093743G>C" "" "" "" "NTHL1(NM_002528.7):c.526-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2043742G>C" "" "likely benign" ""
"0000557075" "0" "30" "16" "2079716" "2079716" "subst" "0" "01804" "SLC9A3R2_000008" "g.2079716A>C" "" "" "" "SLC9A3R2(NM_001130012.2):c.347A>C (p.(His116Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2029715A>C" "" "likely benign" ""
"0000557076" "0" "30" "16" "2079718" "2079719" "del" "0" "01804" "SLC9A3R2_000009" "g.2079718_2079719del" "" "" "" "SLC9A3R2(NM_001130012.2):c.349_350del (p.(Asp117ProfsTer50))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2029717_2029718del" "" "likely benign" ""
"0000557078" "0" "30" "16" "2090008" "2090008" "subst" "2.47095E-5" "02330" "NTHL1_000014" "g.2090008C>T" "" "" "" "NTHL1(NM_002528.7):c.832G>A (p.G278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2040007C>T" "" "likely benign" ""
"0000557079" "0" "30" "16" "2090051" "2090051" "subst" "0.000197653" "01943" "NTHL1_000015" "g.2090051G>A" "" "" "" "NTHL1(NM_002528.7):c.792-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2040050G>A" "" "likely benign" ""
"0000557080" "0" "70" "16" "2090217" "2090217" "dup" "0" "01943" "NTHL1_000016" "g.2090217dup" "" "" "" "NTHL1(NM_002528.7):c.709dupA (p.I237Nfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2040216dup" "" "likely pathogenic" ""
"0000557081" "0" "30" "16" "2093649" "2093649" "subst" "0" "02330" "NTHL1_000017" "g.2093649C>G" "" "" "" "NTHL1(NM_002528.7):c.604G>C (p.E202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2043648C>G" "" "likely benign" ""
"0000615820" "0" "30" "16" "2079704" "2079705" "ins" "0" "01804" "SLC9A3R2_000010" "g.2079704_2079705insGCC" "" "" "" "SLC9A3R2(NM_001130012.2):c.335_336insGCC (p.(Pro114dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2029703_2029704insGCC" "" "likely benign" ""
"0000623394" "0" "30" "16" "2093670" "2093670" "subst" "1.63451E-5" "02330" "NTHL1_000189" "g.2093670C>T" "" "" "" "NTHL1(NM_002528.7):c.583G>A (p.D195N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2043669C>T" "" "likely benign" ""
"0000691965" "0" "30" "16" "2079708" "2079708" "subst" "0" "01943" "SLC9A3R2_000011" "g.2079708A>C" "" "" "" "SLC9A3R2(NM_001130012.2):c.339A>C (p.P113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691967" "0" "50" "16" "2090008" "2090008" "subst" "2.47095E-5" "01943" "NTHL1_000014" "g.2090008C>T" "" "" "" "NTHL1(NM_002528.7):c.832G>A (p.G278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725516" "0" "30" "16" "2093737" "2093738" "del" "0.000172461" "01943" "NTHL1_000232" "g.2093737_2093738del" "" "" "" "NTHL1(NM_002528.7):c.526-11_526-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807132" "0" "30" "16" "2090179" "2090179" "subst" "0.000105628" "02369" "NTHL1_000241" "g.2090179T>C" "" "" "" "NTHL1(NM_001318193.1):c.599A>G (p.(Lys200Arg)), NTHL1(NM_002528.7):c.746A>G (p.K249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807133" "0" "90" "16" "2093728" "2093728" "subst" "8.60472E-5" "02329" "NTHL1_000228" "g.2093728C>T" "" "" "" "NTHL1(NM_002528.7):c.526-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000981680" "0" "50" "16" "2090008" "2090008" "subst" "2.47095E-5" "02329" "NTHL1_000014" "g.2090008C>T" "" "" "" "NTHL1(NM_002528.7):c.832G>A (p.G278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981681" "0" "50" "16" "2090179" "2090179" "subst" "0.000105628" "02325" "NTHL1_000241" "g.2090179T>C" "" "" "" "NTHL1(NM_001318193.1):c.599A>G (p.(Lys200Arg)), NTHL1(NM_002528.7):c.746A>G (p.K249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001015313" "0" "50" "16" "2090179" "2090179" "subst" "0.000105628" "01804" "NTHL1_000241" "g.2090179T>C" "" "" "" "NTHL1(NM_001318193.1):c.599A>G (p.(Lys200Arg)), NTHL1(NM_002528.7):c.746A>G (p.K249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001015314" "0" "50" "16" "2093737" "2093738" "del" "0.000172461" "02329" "NTHL1_000232" "g.2093737_2093738del" "" "" "" "NTHL1(NM_002528.7):c.526-11_526-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026584" "0" "50" "16" "2090129" "2090129" "subst" "0" "02327" "NTHL1_000382" "g.2090129C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001040893" "0" "30" "16" "2093698" "2093698" "subst" "8.17E-6" "02329" "NTHL1_000393" "g.2093698G>A" "" "" "" "NTHL1(NM_002528.7):c.555C>T (p.S185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001046539" "0" "50" "16" "2090177" "2090177" "subst" "7.31291E-5" "01804" "NTHL1_000401" "g.2090177A>T" "" "" "" "NTHL1(NM_001318193.1):c.601T>A (p.(Ser201Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 SLC9A3R2
## Count = 22
"{{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}}"
"0000293268" "00019079" "30" "2935" "0" "2935" "0" "c.*1921G>A" "r.(=)" "p.(=)" ""
"0000293273" "00019079" "30" "6772" "0" "6772" "0" "c.*5758G>C" "r.(=)" "p.(=)" ""
"0000557075" "00019079" "30" "347" "0" "347" "0" "c.347A>C" "r.(?)" "p.(His116Pro)" ""
"0000557076" "00019079" "30" "349" "0" "350" "0" "c.349_350del" "r.(?)" "p.(Asp117ProfsTer50)" ""
"0000557078" "00019079" "30" "3037" "0" "3037" "0" "c.*2023C>T" "r.(=)" "p.(=)" ""
"0000557079" "00019079" "30" "3080" "0" "3080" "0" "c.*2066G>A" "r.(=)" "p.(=)" ""
"0000557080" "00019079" "70" "3246" "0" "3246" "0" "c.*2232dup" "r.(?)" "p.(=)" ""
"0000557081" "00019079" "30" "6678" "0" "6678" "0" "c.*5664C>G" "r.(=)" "p.(=)" ""
"0000615820" "00019079" "30" "335" "0" "336" "0" "c.335_336insGCC" "r.(?)" "p.(Pro114dup)" ""
"0000623394" "00019079" "30" "6699" "0" "6699" "0" "c.*5685C>T" "r.(=)" "p.(=)" ""
"0000691965" "00019079" "30" "339" "0" "339" "0" "c.339A>C" "r.(?)" "p.(Pro113=)" ""
"0000691967" "00019079" "50" "3037" "0" "3037" "0" "c.*2023C>T" "r.(=)" "p.(=)" ""
"0000725516" "00019079" "30" "6766" "0" "6767" "0" "c.*5752_*5753del" "r.(=)" "p.(=)" ""
"0000807132" "00019079" "30" "3208" "0" "3208" "0" "c.*2194T>C" "r.(=)" "p.(=)" ""
"0000807133" "00019079" "90" "6757" "0" "6757" "0" "c.*5743C>T" "r.(=)" "p.(=)" ""
"0000981680" "00019079" "50" "3037" "0" "3037" "0" "c.*2023C>T" "r.(=)" "p.(=)" ""
"0000981681" "00019079" "50" "3208" "0" "3208" "0" "c.*2194T>C" "r.(=)" "p.(=)" ""
"0001015313" "00019079" "50" "3208" "0" "3208" "0" "c.*2194T>C" "r.(=)" "p.(=)" ""
"0001015314" "00019079" "50" "6766" "0" "6767" "0" "c.*5752_*5753del" "r.(=)" "p.(=)" ""
"0001026584" "00019079" "50" "3158" "0" "3158" "0" "c.*2144C>T" "r.(=)" "p.(=)" ""
"0001040893" "00019079" "30" "6727" "0" "6727" "0" "c.*5713G>A" "r.(=)" "p.(=)" ""
"0001046539" "00019079" "50" "3206" "0" "3206" "0" "c.*2192A>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0