Full data view for gene TBX5

Information The variants shown are described using the NM_000192.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Owner     
?/. - c.16G>A r.(?) p.(Glu6Lys) Unknown - VUS g.114841688C>T g.114403883C>T TBX5(NM_000192.3):c.16G>A (p.E6K, p.(Glu6Lys)) - TBX5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16G>A r.(?) p.(Glu6Lys) Unknown - VUS g.114841688C>T - TBX5(NM_000192.3):c.16G>A (p.E6K, p.(Glu6Lys)) - TBX5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.55G>T r.(?) p.(Ala19Ser) Unknown - VUS g.114841649C>A g.114403844C>A TBX5(NM_000192.3):c.55G>T (p.(Ala19Ser)) - TBX5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55G>T r.(?) p.(Ala19Ser) Unknown - likely benign g.114841649C>A - TBX5(NM_000192.3):c.55G>T (p.(Ala19Ser)) - TBX5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147+4A>G r.spl? p.? Unknown - likely benign g.114841553T>C - TBX5(NM_181486.4):c.147+4A>G - TBX5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147+13C>A r.(=) p.(=) Unknown - likely benign g.114841544G>T g.114403739G>T - - TBX5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.148-19T>A r.(=) p.(=) Unknown - benign g.114839744A>T g.114401939A>T TBX5(NM_000192.3):c.148-19T>A - TBX5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.192G>A r.(?) p.(Trp64*) Maternal (inferred) - pathogenic (dominant) g.114839681C>T g.114401876C>T - - TBX5_000048 - - - - De novo - - - - - DNA SEQ White blood cells - HOS - - - M - Egypt - - - - - 1 Alaaeldin Fayez
?/. - c.271G>A r.(?) p.(Val91Met) Unknown - VUS g.114837409C>T - TBX5(NM_181486.4):c.271G>A (p.(Val91Met)) - TBX5_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278G>A r.(?) p.(Gly93Asp) Unknown - VUS g.114837402C>T g.114399597C>T TBX5(NM_000192.3):c.278G>A (p.(Gly93Asp)) - TBX5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309C>T r.(?) p.(Leu103=) Unknown - benign g.114837371G>A g.114399566G>A TBX5(NM_000192.3):c.309C>T (p.L103=), TBX5(NM_181486.4):c.309C>T (p.(Leu103=)) - TBX5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309C>T r.(?) p.(Leu103=) Unknown - likely benign g.114837371G>A - TBX5(NM_000192.3):c.309C>T (p.L103=), TBX5(NM_181486.4):c.309C>T (p.(Leu103=)) - TBX5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316A>G r.(?) p.(Ile106Val) Unknown - likely benign g.114837364T>C - TBX5(NM_000192.3):c.316A>G (p.(Ile106Val), p.I106V) - TBX5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.316A>G r.(?) p.(Ile106Val) Unknown - benign g.114837364T>C - TBX5(NM_000192.3):c.316A>G (p.(Ile106Val), p.I106V) - TBX5_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.331G>T r.(?) p.(Asp111Tyr) Parent #1 - likely benign g.114837349C>A g.114399544C>A - - TBX5_000042 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77357563 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.331G>T r.(?) p.(Asp111Tyr) Unknown - likely benign g.114837349C>A - TBX5(NM_000192.3):c.331G>T (p.(Asp111Tyr), p.D111Y) - TBX5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.331G>T r.(?) p.(Asp111Tyr) Unknown - benign g.114837349C>A - TBX5(NM_000192.3):c.331G>T (p.(Asp111Tyr), p.D111Y) - TBX5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354T>C r.(?) p.(Asp118=) Unknown - likely benign g.114837326A>G g.114399521A>G TBX5(NM_181486.4):c.354T>C (p.(Asp118=)) - TBX5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354T>C r.(?) p.(Asp118=) Unknown - likely benign g.114837326A>G - TBX5(NM_181486.4):c.354T>C (p.(Asp118=)) - TBX5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363-6A>G r.(=) p.(=) Unknown - likely benign g.114836531T>C g.114398726T>C TBX5(NM_000192.3):c.363-6A>G - TBX5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.372G>A r.(?) p.(Thr124=) Unknown - likely benign g.114836516C>T g.114398711C>T - - TBX5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.373G>C r.(?) p.(Gly125Arg) Unknown ACMG pathogenic (dominant) g.114836515C>G g.114398710C>G G125R 373G>A - TBX5_000050 error in variant description (373G>A) PubMed: Postma 2008, PubMed: Van Ouwerkerk 2022, Journal: Van Ouwerkerk 2022 - - Germline yes - - - - DNA SEQ White blood cells - HOS HOS-F1 PubMed: Postma 2008, PubMed: Van Ouwerkerk 2022, Journal: Van Ouwerkerk 2022 4-generation family, 16 affected (4F, 12M) F;M - Netherlands - - - - - 16 Alaaeldin Fayez
+?/. - c.394C>A r.(?) p.(Pro132Thr) Unknown ACMG likely pathogenic (dominant) g.114836494G>T - - - TBX5_000049 ACMG: PS2_MOD, PM5, PM2_SUP, PP3 (Trio-Exome) PMID: 27035640: other missense change at Pro123 (P126S) described as pathogenic for Holt-Oram Syndrome - - De novo yes - - - - DNA SEQ-NG-I - - HOS 190585 - - F no Germany - - - - - 1 Andreas Laner
+/. - c.408C>A r.(?) p.(Tyr136Ter) Unknown - pathogenic g.114836480G>T g.114398675G>T TBX5(NM_000192.3):c.408C>A (p.Y136*) - TBX5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408C>G r.(?) p.(Tyr136Ter) Unknown - pathogenic g.114836480G>C g.114398675G>C TBX5(NM_000192.3):c.408C>G (p.Y136*) - TBX5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420C>T r.(=) p.(=) Unknown - likely benign g.114836468G>A g.114398663G>A - - TBX5_000020 - - - - Germline - - - - - DNA SEQ-NG-IT - - ? t043 - - - - (Brazil) - - - - - 1 Julia Gomes
+/. - c.451C>A r.(?) p.(Gln151Lys) Unknown - pathogenic (dominant) g.114836437G>T g.114398632G>T - - TBX5_000047 - - - - De novo yes - - - - DNA SEQ White blood cells - HOS - - - M - Egypt - - - - - 1 Alaaeldin Fayez
+/. - c.451C>T r.(?) p.(Gln151*) Unknown - pathogenic g.114836437G>A - TBX5(NM_000192.3):c.451C>T (p.Q151*) - TBX5_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.510+2dup r.spl? p.? Unknown - pathogenic g.114836376dup g.114398571dup TBX5(NM_000192.3):c.510+2dupT - TBX5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.510+3G>A r.spl? p.? Unknown - VUS g.114836375C>T - TBX5(NM_000192.3):c.510+3G>A - TBX5_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.511-56T>C r.(=) p.(=) Unknown - benign g.114832754A>G g.114394949A>G - - TBX5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.521del r.(?) p.(Asn174IlefsTer13) Unknown - pathogenic g.114832690del g.114394885del TBX5(NM_000192.3):c.521delA (p.N174Ifs*13) - TBX5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556G>A r.(?) p.(Val186Met) Unknown - VUS g.114832653C>T - TBX5(NM_181486.4):c.556G>A (p.(Val186Met)) - TBX5_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.563C>T r.(?) p.(Ala188Val) Unknown - VUS g.114832646G>A - TBX5(NM_000192.3):c.563C>T (p.A188V) - TBX5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.587C>A r.(?) p.(Ser196Ter) Unknown - pathogenic g.114832622G>T g.114394817G>T TBX5(NM_000192.3):c.587C>A (p.S196*) - TBX5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.643dup r.(?) p.(Thr215Asnfs*14) Unknown - pathogenic g.114832566dup - TBX5(NM_000192.3):c.643dupA (p.T215Nfs*14) - TBX5_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.652C>G r.(?) p.(Gln218Glu) Parent #1 - likely pathogenic g.114832557G>C g.114394752G>C - - TBX5_000045 ACMG PM1 PM2 PP2 PP3; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - - - DNA SEQ-NG - 58-gene panel CMD Pat222 PubMed: Nguyen 2021 - - - Viet Nam - - - - - 1 Johan den Dunnen
+?/. - c.663+1G>A r.spl? p.? Unknown - likely pathogenic g.114832545C>T - - - TBX5_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663+36G>T r.(=) p.(=) Unknown - benign g.114832510C>A g.114394705C>A - - TBX5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.663+186A>G r.(=) p.(=) Unknown - benign g.114832360T>C g.114394555T>C - - TBX5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.668C>T r.(?) p.(Thr223Met) Unknown - pathogenic g.114823368G>A g.114385563G>A TBX5(NM_000192.3):c.668C>T (p.T223M) - TBX5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.710G>A r.(?) p.(Arg237Gln) Unknown - pathogenic g.114823326C>T g.114385521C>T TBX5(NM_000192.3):c.710G>A (p.R237Q) - TBX5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716G>A r.(?) p.(Ser239Asn) Unknown - VUS g.114823320C>T - TBX5(NM_181486.2):c.716G>A (p.(Ser239Asn)) - TBX5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755+35A>G r.(=) p.(=) Unknown - likely benign g.114823246T>C g.114385441T>C - - TBX5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.755+94C>A r.(=) p.(=) Unknown - benign g.114823187G>T g.114385382G>T - - TBX5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(?) p.(Pro256=) Unknown - likely benign g.114804184G>A g.114366379G>A - - TBX5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775C>T r.(?) p.(Pro259Ser) Unknown ACMG VUS g.114804177G>A g.114366372G>A - - TBX5_000043 - PubMed: Isbister 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - CM BUG1 PubMed: Isbister 2020 - - - Australia - - - - - 1 Johan den Dunnen
-/. - c.786C>T r.(?) p.(Thr262=) Unknown - benign g.114804166G>A g.114366361G>A TBX5(NM_000192.3):c.786C>T (p.T262=) - TBX5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.786C>T r.(?) p.(Thr262=) Unknown - benign g.114804166G>A g.114366361G>A TBX5(NM_000192.3):c.786C>T (p.T262=) - TBX5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.787G>A r.(?) p.(Val263Met) Unknown - likely benign g.114804165C>T g.114366360C>T TBX5(NM_000192.3):c.787G>A (p.(Val263Met)) - TBX5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827G>A r.(?) p.(Ser276Asn) Unknown - likely benign g.114804125C>T g.114366320C>T TBX5(NM_000192.3):c.827G>A (p.(Ser276Asn), p.S276N) - TBX5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827G>A r.(?) p.(Ser276Asn) Unknown - likely benign g.114804125C>T g.114366320C>T TBX5(NM_000192.3):c.827G>A (p.(Ser276Asn), p.S276N) - TBX5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.827G>A r.(?) p.(Ser276Asn) Unknown - likely benign g.114804125C>T - TBX5(NM_000192.3):c.827G>A (p.(Ser276Asn), p.S276N) - TBX5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.835C>T r.(?) p.(Arg279Ter) Unknown - pathogenic g.114804117G>A g.114366312G>A TBX5(NM_000192.3):c.835C>T (p.R279*) - TBX5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.835C>T r.(?) p.(Arg279Ter) Unknown - pathogenic g.114804117G>A - TBX5(NM_000192.3):c.835C>T (p.R279*) - TBX5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836G>A r.(?) p.(Arg279Gln) Unknown - likely benign g.114804116C>T g.114366311C>T TBX5(NM_000192.3):c.836G>A (p.(Arg279Gln), p.R279Q) - TBX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836G>A r.(?) p.(Arg279Gln) Unknown - likely benign g.114804116C>T - TBX5(NM_000192.3):c.836G>A (p.(Arg279Gln), p.R279Q) - TBX5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.874C>T r.(?) p.(Gln292*) Unknown - likely pathogenic g.114804078G>A - TBX5(NM_181486.4):c.874C>T (p.(Gln292*)) - TBX5_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.958del r.(?) p.(Ile320PhefsTer74) Unknown - pathogenic g.114803996del g.114366191del TBX5(NM_000192.3):c.958delA (p.I320Ffs*74) - TBX5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.982+1G>C r.spl? p.? Unknown - pathogenic g.114803969C>G g.114366164C>G TBX5(NM_000192.3):c.982+1G>C - TBX5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.982+16C>T r.(=) p.(=) Unknown - benign g.114803954G>A g.114366149G>A TBX5(NM_000192.3):c.982+16C>T - TBX5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.982+16C>T r.(=) p.(=) Unknown - likely benign g.114803954G>A g.114366149G>A TBX5(NM_000192.3):c.982+16C>T - TBX5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.982+321_982+322insGA r.(=) p.(=) Unknown - likely benign g.114803648_114803649insTC - TBX5(NM_181486.4):c.982+321_982+322insGA - TBX5_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115C>T r.(?) p.(Ser372Leu) Unknown - likely benign g.114793779G>A - TBX5(NM_181486.2):c.1115C>T (p.(Ser372Leu)) - TBX5_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1169T>G r.(?) p.(Val390Gly) Unknown - VUS g.114793725A>C - TBX5(NM_000192.3):c.1169T>G (p.V390G) - TBX5_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1234G>A r.(?) p.(Val412Ile) Parent #1 - likely benign g.114793660C>T g.114355855C>T - - TBX5_000041 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114124210 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.1273C>A r.(?) p.(His425Asn) Unknown - VUS g.114793621G>T g.114355816G>T - - TBX5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1281C>T r.(?) p.(Ser427=) Unknown - benign g.114793613G>A g.114355808G>A TBX5(NM_000192.3):c.1281C>T (p.S427=) - TBX5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1282G>A r.(?) p.(Ala428Thr) Unknown - likely benign g.114793612C>T g.114355807C>T - - TBX5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1292C>T r.(?) p.(Thr431Ile) Unknown - VUS g.114793602G>A g.114355797G>A TBX5 T381I - TBX5_000054 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat185 PubMed: Miszalski-Jamka 2017 case not solved - - - - - - - - 1 Johan den Dunnen
-?/. - c.1313G>A r.(?) p.(Arg438Gln) Unknown - likely benign g.114793581C>T - TBX5(NM_000192.3):c.1313G>A (p.(Arg438Gln)) - TBX5_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502A>G r.(?) p.(Gln501Arg) Unknown - VUS g.114793392T>C - TBX5(NM_181486.4):c.1502A>G (p.(Gln501Arg)) - TBX5_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*40A>G r.(=) p.(=) Unknown - benign g.114793297T>C g.114355492T>C TBX5(NM_181486.4):c.*40A>G - TBX5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*40A>G r.(=) p.(=) Unknown - benign g.114793297T>C g.114355492T>C TBX5(NM_181486.4):c.*40A>G - TBX5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*77A>G r.(=) p.(=) Unknown - benign g.114793260T>C g.114355455T>C - - TBX5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*97G>A r.(=) p.(=) Unknown - benign g.114793240C>T g.114355435C>T TBX5(NM_000192.3):c.*97G>A - TBX5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*97G>A r.(=) p.(=) Unknown - benign g.114793240C>T g.114355435C>T TBX5(NM_000192.3):c.*97G>A - TBX5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*384T>C r.(=) p.(=) Unknown - likely benign g.114792953A>G g.114355148A>G - - TBX5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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