### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GNAI1)
# 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}}"
"GNAI1"	"guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1"	"7"	"q21-q22"	"unknown"	"NC_000007.13"	"UD_132609730862"	""	"https://www.LOVD.nl/GNAI1"	""	"1"	"4384"	"2770"	"139310"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2018-01-26 19:50:50"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00008639"	"GNAI1"	"guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1"	"001"	"NM_002069.5"	""	"NP_002060.4"	""	""	""	"-337"	"2981"	"1065"	"79764140"	"79848725"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{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"
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00151812"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00225483"	""	""	""	"1"	""	"00006"	"{PMID:Morimoto 2018:30401460}, {DOI:Morimoto 2018:10.1016/j.ajhg.2018.09.014}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	""	"United States"	""	"0"	""	""	"Amish"	"30401460-Fam3"
"00361983"	""	""	""	"2"	""	"03544"	"{PMID:Wayhelova 2022:34819662}, {DOI:Wayhelova 2022:10.1038/s10038-021-00988-w}"	"2-generation family, affected monozygotic twins, unaffected non-carrier parents"	"M"	"no"	"Czech Republic"	""	"0"	""	""	"white"	"twins"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00151812"	"00198"
"00225483"	"00198"
"00361983"	"05162"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05162
## Count = 3
"{{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/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000124181"	"00198"	"00151812"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Seizures (HP:0001250)"	""	""	""	""	""	""	""	""	""	""
"0000170598"	"00198"	"00225483"	"00006"	"Familial, autosomal recessive"	""	"delivery c-section; born at term; no polyhydramnios; respiratory distress; decreased fetal movements; no bradycardia; birth weight <3rd; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; no almond-shaped palpebral fissure; epicanthal folds; ptosis; no long eyelashes; synophrys; no; unusual nose; downturned mouth; wide mouth; macroglossia; full or thick lips; dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; bitemporal narrowing; brachycephaly; plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; no genital anomaly; hypotonia; no narrow chest; no fibular bowing; genu valgum; no bilateral clubfoot; small feet; no pectus excavatum; scoliosis; no hyperopia; no astigmatism; cortical visual impairment; recurrent infections; immunodeficiency; hypothyroidism; rickets; obstructive sleep apnea; central sleep apnea; no ventricular septal defect; no patent ductus arteriosus; hepatosplenomegaly; liver dysfunction; no recurrent pancreatitis; no exocrine pancreatic insufficiency; gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; gastrostomy tube; elevated bile acids; no renal abnormalities; severe global developmental delay; hyperreflexia; no reduced tendon reflexes; no absent achilles reflex; behavioral issues; seizures; EEG abnormalities; no abnormal ventricle morphology; no abnormal corpus callosum; cerebral atrophy; no white matter abnormalities; no cerebellar hypoplasia"	""	""	""	""	""	""	""	""	"multisystem disorder"	""
"0000257374"	"05162"	"00361983"	"03544"	"Isolated (sporadic)"	"13y"	"developmental delay, speech delay, motor delay, mild to moderate cerebral palsy"	"00y06m?"	"06y"	""	""	""	""	""	"GNAI1 syndrome"	"developmental delay"	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000152669"	"00151812"	"0"	"01807"	"01807"	"2018-01-24 21:42:30"	""	""	"SEQ"	"DNA"	""	""
"0000226562"	"00225483"	"1"	"00006"	"00006"	"2019-02-17 11:19:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000363211"	"00361983"	"1"	"03544"	"03544"	"2021-04-13 10:03:30"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000226562"	"CCDC47"


## 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 = 15
"{{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}}"
"0000284724"	"0"	"30"	"7"	"79828617"	"79828617"	"subst"	"0.00238826"	"02326"	"GNAI1_000001"	"g.79828617T>C"	""	""	""	"GNAI1(NM_002069.6):c.380T>C (p.(Ile127Thr), p.I127T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.80199301T>C"	""	"likely benign"	""
"0000351493"	"0"	"70"	"7"	"79818303"	"79818303"	"subst"	"0"	"01807"	"GNAI1_000002"	"g.79818303A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.80188987A>C"	""	"likely pathogenic"	""
"0000458897"	"3"	"50"	"7"	"79828617"	"79828617"	"subst"	"0.00238826"	"00006"	"GNAI1_000001"	"g.79828617T>C"	""	"{PMID:Morimoto 2018:30401460}, {DOI:Morimoto 2018:10.1016/j.ajhg.2018.09.014}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.80199301T>C"	""	"VUS"	""
"0000532705"	"0"	"30"	"7"	"79764599"	"79764599"	"subst"	"0.00105511"	"02326"	"GNAI1_000003"	"g.79764599G>A"	""	""	""	"GNAI1(NM_002069.6):c.118+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.80135283G>A"	""	"likely benign"	""
"0000532706"	"0"	"50"	"7"	"79840335"	"79840335"	"subst"	"0"	"01804"	"GNAI1_000004"	"g.79840335G>C"	""	""	""	"GNAI1(NM_002069.5):c.641G>C (p.(Cys214Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.80211019G>C"	""	"VUS"	""
"0000763680"	"0"	"70"	"7"	"79842126"	"79842126"	"subst"	"0"	"03544"	"GNAI1_000005"	"g.79842126A>G"	""	"{PMID:Wayhelova 2022:34819662}, {DOI:Wayhelova 2022:10.1038/s10038-021-00988-w}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.80212810A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000803255"	"0"	"70"	"7"	"79846720"	"79846720"	"subst"	"0"	"02326"	"GNAI1_000006"	"g.79846720G>C"	""	""	""	"GNAI1(NM_002069.6):c.976G>C (p.A326P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000887982"	"0"	"30"	"7"	"79828617"	"79828617"	"subst"	"0.00238826"	"02325"	"GNAI1_000001"	"g.79828617T>C"	""	""	""	"GNAI1(NM_002069.6):c.380T>C (p.(Ile127Thr), p.I127T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912799"	"0"	"70"	"7"	"79840365"	"79840365"	"subst"	"0"	"02327"	"GNAI1_000007"	"g.79840365G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000924758"	"0"	"50"	"7"	"79840317"	"79840317"	"subst"	"0"	"02327"	"GNAI1_000008"	"g.79840317G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000964679"	"0"	"30"	"7"	"79833155"	"79833155"	"subst"	"0.000152148"	"02326"	"GNAI1_000009"	"g.79833155A>G"	""	""	""	"GNAI1(NM_002069.6):c.590+7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977862"	"0"	"30"	"7"	"79828617"	"79828617"	"subst"	"0.00238826"	"01804"	"GNAI1_000001"	"g.79828617T>C"	""	""	""	"GNAI1(NM_002069.6):c.380T>C (p.(Ile127Thr), p.I127T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000977863"	"0"	"30"	"7"	"79833154"	"79833161"	"del"	"0"	"01804"	"GNAI1_000010"	"g.79833154_79833161del"	""	""	""	"GNAI1(NM_002069.6):c.590+6_590+13del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000996664"	"0"	"50"	"7"	"79842154"	"79842154"	"subst"	"0"	"01804"	"GNAI1_000011"	"g.79842154C>G"	""	""	""	"GNAI1(NM_002069.5):c.843C>G (p.(Ser281Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001064736"	"0"	"30"	"7"	"79833154"	"79833161"	"del"	"0"	"02325"	"GNAI1_000010"	"g.79833154_79833161del"	""	""	""	"GNAI1(NM_002069.6):c.590+6_590+13del"	"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 GNAI1
## Count = 15
"{{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}}"
"0000284724"	"00008639"	"30"	"380"	"0"	"380"	"0"	"c.380T>C"	"r.(?)"	"p.(Ile127Thr)"	""
"0000351493"	"00008639"	"70"	"155"	"0"	"155"	"0"	"c.155A>C"	"r.(?)"	"p.(Gln52Pro)"	""
"0000458897"	"00008639"	"50"	"380"	"0"	"380"	"0"	"c.380T>C"	"r.(?)"	"p.(Ile127Thr)"	""
"0000532705"	"00008639"	"30"	"118"	"5"	"118"	"5"	"c.118+5G>A"	"r.spl?"	"p.?"	""
"0000532706"	"00008639"	"50"	"641"	"0"	"641"	"0"	"c.641G>C"	"r.(?)"	"p.(Cys214Ser)"	""
"0000763680"	"00008639"	"70"	"815"	"0"	"815"	"0"	"c.815A>G"	"r.(?)"	"p.(Asp272Gly)"	"7"
"0000803255"	"00008639"	"70"	"976"	"0"	"976"	"0"	"c.976G>C"	"r.(?)"	"p.(Ala326Pro)"	""
"0000887982"	"00008639"	"30"	"380"	"0"	"380"	"0"	"c.380T>C"	"r.(?)"	"p.(Ile127Thr)"	""
"0000912799"	"00008639"	"70"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.(?)"	"p.(Cys224Tyr)"	""
"0000924758"	"00008639"	"50"	"623"	"0"	"623"	"0"	"c.623G>A"	"r.(?)"	"p.(Arg208Gln)"	""
"0000964679"	"00008639"	"30"	"590"	"7"	"590"	"7"	"c.590+7A>G"	"r.(=)"	"p.(=)"	""
"0000977862"	"00008639"	"30"	"380"	"0"	"380"	"0"	"c.380T>C"	"r.(?)"	"p.(Ile127Thr)"	""
"0000977863"	"00008639"	"30"	"590"	"6"	"590"	"13"	"c.590+6_590+13del"	"r.(=)"	"p.(=)"	""
"0000996664"	"00008639"	"50"	"843"	"0"	"843"	"0"	"c.843C>G"	"r.(?)"	"p.(Ser281Arg)"	""
"0001064736"	"00008639"	"30"	"590"	"6"	"590"	"13"	"c.590+6_590+13del"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000152669"	"0000351493"
"0000226562"	"0000458897"
"0000363211"	"0000763680"