Full data view for gene TUBGCP2

Information The variants shown are described using the NM_001256617.1 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-258648_*11942459dup - - Unknown - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.-41C>G r.(?) p.(=) Unknown - VUS g.135122328G>C - TUBGCP2(NM_006659.4):c.-41C>G - TUBGCP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-40+8C>G r.(=) p.(=) Unknown - likely benign g.135122319G>C - TUBGCP2(NM_006659.4):c.-40+8C>G - TUBGCP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.172C>T r.(?) p.(Arg58Cys) Parent #2 - VUS g.135113596G>A - - - TUBGCP2_000012 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline no - - - - DNA SEQ blood WES CORD FamAPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F no Turkey - >16y - - - 3 Jens Doets
?/. - c.375G>A r.(?) p.(Ala125=) Unknown - VUS g.135113012C>T g.133299508C>T TUBGCP2(NM_001256617.1):c.375G>A (p.(=)) - TUBGCP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456+8G>A r.(=) p.(=) Unknown - likely benign g.135112923C>T - TUBGCP2(NM_006659.4):c.456+8G>A - TUBGCP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616+4C>T r.spl? p.? Unknown - likely benign g.135111452G>A - TUBGCP2(NM_001256617.1):c.616+4C>T, TUBGCP2(NM_006659.4):c.616+4C>T - TUBGCP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616+4C>T r.spl? p.? Unknown - likely benign g.135111452G>A - TUBGCP2(NM_001256617.1):c.616+4C>T, TUBGCP2(NM_006659.4):c.616+4C>T - TUBGCP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719C>T r.(?) p.(Ser240Leu) Unknown - VUS g.135107255G>A - TUBGCP2(NM_006659.4):c.635C>T (p.(Ser212Leu)) - TUBGCP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.763G>A r.(?) p.(Gly255Ser) Unknown - VUS g.135107211C>T - TUBGCP2(NM_006659.4):c.679G>A (p.(Gly227Ser)) - TUBGCP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804G>A r.(?) p.(Gly268=) Unknown - likely benign g.135107170C>T - TUBGCP2(NM_001256617.1):c.804G>A (p.G268=) - TUBGCP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830A>T r.(?) p.(Asp277Val) Unknown - VUS g.135107144T>A - TUBGCP2(NM_006659.4):c.746A>T (p.(Asp249Val)) - TUBGCP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.973C>T r.(?) p.(Arg325Cys) Paternal (confirmed) - pathogenic (recessive) g.135106678G>A g.133293174G>A - - TUBGCP2_000008 - PubMed: Milani 2019 - - Germline - - NM_006659.3:c.889C>T - - DNA RT-PCR, SEQ, SEQ-NG - WES ? Fam4PatII1 PubMed: Milani 2019 2-generation family, 1 affected (F), unaffected heterozygous carrier parents/relative F - - - - - - - 1 Johan den Dunnen
+/. - c.1081C>T r.(?) p.(Arg361Cys) Both (homozygous) - pathogenic (recessive) g.135106570G>A g.133293066G>A - - TUBGCP2_000007 - PubMed: Milani 2019 - - Germline yes - NM_006659.3:c.997C>T - - DNA arraySNP, SEQ, SEQ-NG - WES ? Fam1PatVI5 PubMed: Milani 2019 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes United States - - - - - 2 Johan den Dunnen
+/. - c.1081C>T r.(?) p.(Arg361Cys) Both (homozygous) - pathogenic (recessive) g.135106570G>A g.133293066G>A - - TUBGCP2_000007 - PubMed: Milani 2019 - - Germline yes - NM_006659.3:c.997C>T - - DNA SEQ - - ? Fam1PatV1 PubMed: Milani 2019 - M yes United States - - - - - 1 Johan den Dunnen
?/. - c.1081C>T r.(?) p.(Arg361Cys) Unknown - VUS g.135106570G>A - TUBGCP2(NM_006659.4):c.997C>T (p.(Arg333Cys)) - TUBGCP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101C>T r.(?) p.(Ala367=) Unknown - likely benign g.135106550G>A - TUBGCP2(NM_001256617.1):c.1101C>T (p.A367=) - TUBGCP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108+4C>T r.spl? p.? Unknown - likely benign g.135106539G>A - TUBGCP2(NM_001256617.2):c.1108+4C>T - TUBGCP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1109-2A>G r.spl? p.? Unknown - pathogenic g.135106194T>C - TUBGCP2(NM_001256617.1):c.1109-2A>G - TUBGCP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1129G>A r.(?) p.(Glu377Lys) Unknown - VUS g.135106172C>T g.133292668C>T TUBGCP2(NM_001256617.1):c.1129G>A (p.(Glu377Lys)) - TUBGCP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1148C>T r.(?) p.(Thr383Met) Parent #1 - VUS g.135106153G>A - NM_006659.3:c.1064C>T - TUBGCP2_000011 - PubMed: Roosing 2014, Journal: Roosing 2014 - - Germline no - - - - DNA SEQ blood WES CORD FamAPatII1 PubMed: Roosing 2014, Journal: Roosing 2014 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F no Turkey - >16y - - - 3 Jens Doets
?/. - c.1148C>T r.(?) p.(Thr383Met) Unknown - VUS g.135106153G>A - TUBGCP2(NM_006659.4):c.1064C>T (p.(Thr355Met)) - TUBGCP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164C>T r.(?) p.(His388=) Unknown - likely benign g.135106137G>A - TUBGCP2(NM_001256617.1):c.1164C>T (p.H388=) - TUBGCP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1199C>T r.(?) p.(Ala400Val) Unknown - VUS g.135106102G>A - TUBGCP2(NM_006659.4):c.1115C>T (p.(Ala372Val)) - TUBGCP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1229C>T r.(?) p.(Ala410Val) Unknown - VUS g.135106072G>A - TUBGCP2(NM_001256617.2):c.1229C>T (p.A410V) - TUBGCP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1444+2_1444+3insCC r.spl? p.? Unknown - likely benign g.135103325_135103326insGG g.133289821_133289822insGG TUBGCP2(NM_001256617.1):c.1444+2_1444+3insCC - TUBGCP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1670T>C r.(?) p.(Val557Ala) Unknown - likely benign g.135101769A>G - TUBGCP2(NM_001256617.1):c.1670T>C (p.V557A) - TUBGCP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1807-2A>G r.spl? p.? Unknown - likely pathogenic g.135099134T>C - - - TUBGCP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1886C>T r.(?) p.(Ala629Val) Unknown - likely benign g.135099053G>A - TUBGCP2(NM_001256617.1):c.1886C>T (p.A629V) - TUBGCP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1927G>C r.(?) p.(Ala643Pro) Both (homozygous) - pathogenic (recessive) g.135099012C>G g.133285508C>G - - TUBGCP2_000006 - PubMed: Milani 2019 - - Germline - - NM_006659.3:c.1843G>C - - DNA SEQ, SEQ-NG - WES ? Fam2PattII3 PubMed: Milani 2019 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.1927G>C r.(?) p.(Ala643Pro) Both (homozygous) - pathogenic (recessive) g.135099012C>G g.133285508C>G - - TUBGCP2_000006 - PubMed: Milani 2019 - - Germline - - NM_006659.3:c.1843G>C - - DNA SEQ, SEQ-NG - WES ? Fam3PatII2 PubMed: Milani 2019 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
?/. - c.1939G>A r.(?) p.(Asp647Asn) Unknown - VUS g.135099000C>T - TUBGCP2(NM_001256617.2):c.1939G>A (p.D647N) - TUBGCP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2109-2A>G r.[2108_2109ins[2109-215_2109-3;gg],2108_2109ins[2109-176_2109-3;gg],?] p.? Maternal (confirmed) - pathogenic (recessive) g.135097508T>C g.133284004T>C - - TUBGCP2_000005 - PubMed: Milani 2019 - - Germline - - NM_006659.3:c.2025-2A>G - - DNA RT-PCR, SEQ, SEQ-NG - WES ? Fam4PatII1 PubMed: Milani 2019 2-generation family, 1 affected (F), unaffected heterozygous carrier parents/relative F - - - - - - - 1 Johan den Dunnen
?/. - c.2562C>G r.(?) p.(Asp854Glu) Unknown - VUS g.135094872G>C - TUBGCP2(NM_001256617.2):c.2562C>G (p.D854E) - ADAM8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2682G>A r.(?) p.(=) Unknown - VUS g.135093381C>T - TUBGCP2(NM_006659.4):c.2598G>A (p.(Thr866=)) - ADAM8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2776G>A r.(?) p.(Ala926Thr) Unknown - likely benign g.135093287C>T - TUBGCP2(NM_006659.4):c.2692G>A (p.(Ala898Thr)) - ADAM8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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