Full data view for gene TBX6

Information The variants shown are described using the NM_004608.3 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.-4496855_*1997545del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
./. - c.-1785539_*2914395dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.-154083_*504764dup - - Maternal (confirmed) - pathogenic g.29592782_30257228dup g.29581461_30245907dup - - FAM57B_000004 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. _1_9_ c.-123785_*530251del r.0 p.0 Parent #1 - pathogenic g.29567295_30226930del g.29555974_30215609del - - TBX6_000006 NOTE: unclear whether breakpoint was sequenced or whether description represents the minimal or maximal extent of the deletion - - - Germline yes 5/94 cases - - - DNA arrayCGH - - - - - - - - - - - - - - - -
./. - c.-112479_*491009del r.0? p.0? Maternal (confirmed) - pathogenic g.29606538_30215625del g.29595217_30204304del - - FAM57B_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. _1_9_ c.-75261_*530251del r.0 p.0 Parent #1 - pathogenic g.29567295_30178406del g.29555974_30167085del - - TBX6_000007 611.1kb deletion; NOTE: unclear whether breakpoint was sequenced or whether description represents the minimal or maximal extent of the deletion - - - Germline yes 5/94 cases - - - DNA arrayCGH - - ? - - - M no Japan Japanese - - - - 1 Kazuki Takeda
+?/. - c.-49+34G>T r.(=) p.(=) Unknown - likely pathogenic g.30103160C>A - - - TBX6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-48-240A>G r.(=) p.(=) Unknown - likely pathogenic g.30102802T>C - - - TBX6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.34G>C r.(?) p.(Gly12Arg) Unknown - VUS g.30102481C>G - TBX6(NM_004608.4):c.34G>C (p.(Gly12Arg)) - TBX6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109C>T r.(?) p.(Arg37Cys) Unknown - likely benign g.30102406G>A - TBX6(NM_004608.3):c.109C>T (p.(Arg37Cys)) - TBX6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118+6C>T r.(=) p.(=) Unknown - likely benign g.30102391G>A g.30091070G>A TBX6(NM_004608.3):c.118+6C>T (p.(=)) - TBX6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.156del r.(?) p.(Met53Trpfs*41) Unknown - pathogenic g.30102278del g.30090957del - - TBX6_000001 - - - - Germline yes - - - - DNA SEQ Saliva - - - - - - - - - - - - - - -
?/. - c.221G>A r.(?) p.(Gly74Asp) Unknown - VUS g.30102211C>T - TBX6(NM_004608.3):c.221G>A (p.(Gly74Asp)) - TBX6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.333G>T r.(?) p.(Met111Ile) Unknown - pathogenic g.30102099C>A g.30090778C>A - - TBX6_000002 - - - - Germline yes - - - - DNA SEQ saliva - - - - - - - - - - - - - - -
+?/. - c.356G>A r.(?) p.(Arg119His) Unknown - likely pathogenic g.30100529C>T - TBX6(NM_004608.4):c.356G>A (p.R119H) - PPP4C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358A>G r.(?) p.(Met120Val) Unknown - VUS g.30100527T>C - TBX6(NM_004608.4):c.358A>G (p.(Met120Val)) - PPP4C_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398C>T r.(?) p.(Pro133Leu) Unknown - VUS g.30100487G>A - TBX6(NM_004608.4):c.398C>T (p.(Pro133Leu)) - PPP4C_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>T r.(?) p.(Arg136=) Unknown - likely benign g.30100477G>A - TBX6(NM_004608.3):c.408C>T (p.R136=) - PPP4C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.448C>T r.(?) p.(Arg150Cys) Paternal (confirmed) - benign g.30100437G>A g.30089116G>A - - TBX6_000003 - - - - Germline no - - - - DNA SEQ saliva - - - - - - - - - - - - - - -
?/. - c.449G>A r.(?) p.(Arg150His) Unknown - VUS g.30100436C>T - TBX6(NM_004608.4):c.449G>A (p.(Arg150His)) - PPP4C_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466C>T r.(?) p.(Arg156Trp) Unknown - VUS g.30100419G>A - TBX6(NM_004608.3):c.466C>T (p.(Arg156Trp)) - PPP4C_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484G>A r.(?) p.(Gly162Ser) Unknown - likely benign g.30100401C>T g.30089080C>T TBX6(NM_004608.3):c.484G>A (p.(Gly162Ser)), TBX6(NM_004608.4):c.484G>A (p.G162S) - TBX6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484G>A r.(?) p.(Gly162Ser) Unknown - likely benign g.30100401C>T g.30089080C>T TBX6(NM_004608.3):c.484G>A (p.(Gly162Ser)), TBX6(NM_004608.4):c.484G>A (p.G162S) - TBX6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.486C>T r.(?) p.(=) Unknown - VUS g.30100399G>A - TBX6(NM_004608.3):c.486C>T (p.G162=) - PPP4C_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.491C>T r.(?) p.(Ala164Val) Unknown - likely pathogenic g.30100394G>A - TBX6(NM_004608.4):c.491C>T (p.(Ala164Val)) - PPP4C_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504G>A r.(?) p.(Leu168=) Unknown - likely benign g.30100381C>T - TBX6(NM_004608.3):c.504G>A (p.L168=) - PPP4C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.585C>T r.(?) p.(Val195=) Unknown - likely benign g.30100300G>A - TBX6(NM_004608.3):c.585C>T (p.V195=) - PPP4C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590T>G r.(?) p.(Leu197Arg) Unknown - VUS g.30100295A>C g.30088974A>C - - PPP4C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.613del r.(?) p.(His205Thrfs*4) Unknown - VUS g.30100276del - TBX6(NM_004608.4):c.613del (p.(His205Thrfs*4)) - PPP4C_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.621+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.30100263C>T g.30088942C>T - - TBX6_000010 - PubMed: Chen 2021, Journal: Chen 2021 - - Germline - 1/442 cases - - - DNA SEQ, SEQ-NG - WES MRKHS MRK639 PubMed: Chen 2021, Journal: Chen 2021 - F - China Han - - - - 1 Johan den Dunnen
?/. - c.655C>T r.(?) p.(Arg219Cys) Unknown - VUS g.30100127G>A g.30088806G>A - - PPP4C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.699G>A r.(?) p.(Trp233*) Unknown - pathogenic g.30100083C>T g.30088762C>T - - TBX6_000004 - - - - Germline yes - - - - DNA SEQ - - - - - - - - - - - - - - - -
+/. - c.699G>C r.(?) p.(Trp233Cys) Unknown - pathogenic g.30100083C>G g.30088762C>G TBX6(NM_004608.3):c.699G>C (p.(Trp233Cys)) - PPP4C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.699G>C r.(?) p.(Trp233Cys) Unknown - VUS g.30100083C>G - TBX6(NM_004608.3):c.699G>C (p.(Trp233Cys)) - PPP4C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700G>A r.(?) p.(Gly234Arg) Unknown - VUS g.30100082C>T - TBX6(NM_004608.4):c.700G>A (p.G234R) - PPP4C_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>T r.(?) p.(Ser248=) Unknown - likely benign g.30100038G>A - TBX6(NM_004608.3):c.744C>T (p.S248=) - PPP4C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.815G>A r.(?) p.(Arg272Gln) Unknown - likely benign g.30099890C>T g.30088569C>T TBX6(NM_004608.3):c.815G>A (p.(Arg272Gln)), TBX6(NM_004608.4):c.815G>A (p.R272Q) - PPP4C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.815G>A r.(?) p.(Arg272Gln) Unknown - VUS g.30099890C>T - TBX6(NM_004608.3):c.815G>A (p.(Arg272Gln)), TBX6(NM_004608.4):c.815G>A (p.R272Q) - PPP4C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.833_834del r.(?) p.(Cys278*) Unknown - likely pathogenic g.30099872_30099873del - TBX6(NM_004608.4):c.833_834del (p.(Cys278*)) - PPP4C_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.834dup r.(?) p.(Lys279*) Unknown - likely pathogenic g.30099871dup - - - PPP4C_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.844C>T r.(?) p.(Arg282*) Unknown - pathogenic g.30098168G>A - - - PPP4C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Gly304Arg) Unknown - likely benign g.30098102C>T - TBX6(NM_004608.3):c.910G>A (p.(Gly304Arg)) - PPP4C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.914-6C>T r.(=) p.(=) Unknown - likely benign g.30098022G>A - TBX6(NM_004608.3):c.914-6C>T - PPP4C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.914-1G>A r.spl? p.? Unknown - likely pathogenic g.30098017C>T g.30086696C>T - - PPP4C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.934_935dup r.(?) p.(Asp312Glufs*187) Maternal (confirmed) - pathogenic g.30097995_30097996dup g.30086674_30086675dup 935_936insGA - TBX6_000005 - - - - Germline yes - - - - DNA SEQ saliva - - - - - - - - - - - - - - -
?/. - c.1061C>T r.(?) p.(Ala354Val) Unknown - VUS g.30097869G>A - TBX6(NM_004608.4):c.1061C>T (p.(Ala354Val)) - PPP4C_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1098G>A r.(?) p.(=) Unknown - VUS g.30097759C>T - TBX6(NM_004608.4):c.1098G>A (p.(Arg366=)) - PPP4C_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1227G>A r.(?) p.(Pro409=) Unknown - likely pathogenic g.30097630C>T - - - PPP4C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1268C>T r.(?) p.(Ala423Val) Unknown - likely benign g.30097589G>A - TBX6(NM_004608.3):c.1268C>T (p.(Ala423Val)) - PPP4C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1276G>A r.(?) p.(Gly426Ser) Unknown - likely benign g.30097581C>T - TBX6(NM_004608.3):c.1276G>A (p.(Gly426Ser)) - PPP4C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1297A>C r.(?) p.(Lys433Gln) Unknown - VUS g.30097560T>G - TBX6(NM_004608.4):c.1297A>C (p.(Lys433Gln)) - PPP4C_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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