### 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