{{Rsnum
|rsid=41298838
|Gene=TBX1
|Chromosome=22
|position=19765921
|Orientation=plus
|GMAF=0.01056
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TBX1
}}{{omim
|id=602054
|rsnum=41298838
|variant=0002
}}

{{ClinVar
|rsid=41298838
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=19753444
|CHROM=22
|GMAF=0.0105
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050060000000150116110100
|GENEINFO=TBX1:6899
|GENE_NAME=TBX1
|GENE_ID=6899
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000022.10:g.19753444G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=602054.0002
|CLNSIG=5
|CLNCUI=C0012236
|CLNDBN=DiGeorge sequence
|Disease=DiGeorge sequence
|CLNACC=RCV000008000.2
|Tags=PM;VLD;G5;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9894; 0.01056
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1523:C0012236:188400:567:77128003
|COMMON=1
}}

{{GET Evidence
|gene=TBX1
|aa_change=Gly310Ser
|aa_change_short=G310S
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs41298838
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.674
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=5
|webscore=N
|n_web_uneval=4
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}