Full data view for gene TRIP11

Information The variants shown are described using the NM_004239.3 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.88A>G r.(?) p.(Ile30Val) Unknown - VUS g.92505942T>C - TRIP11(NM_001321851.1):c.88A>G (p.(Ile30Val)) - TRIP11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140-4G>A r.spl? p.? Unknown - likely benign g.92499601C>T - TRIP11(NM_004239.4):c.140-4G>A - TRIP11_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.168A>T r.(?) p.(Glu56Asp) Unknown - VUS g.92499569T>A - TRIP11(NM_004239.4):c.168A>T (p.(Glu56Asp)) - TRIP11_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202-7T>A r.(=) p.(=) Unknown - likely benign g.92491771A>T g.92025427A>T TRIP11(NM_004239.3):c.202-7T>A (p.(=)) - TRIP11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382G>T r.(?) p.(Ala128Ser) Unknown - likely benign g.92488106C>A g.92021762C>A TRIP11(NM_004239.3):c.382G>T (p.(Ala128Ser)), TRIP11(NM_004239.4):c.382G>T (p.A128S) - TRIP11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382G>T r.(?) p.(Ala128Ser) Unknown - likely benign g.92488106C>A - TRIP11(NM_004239.3):c.382G>T (p.(Ala128Ser)), TRIP11(NM_004239.4):c.382G>T (p.A128S) - TRIP11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>C r.(?) p.(Asp161His) Unknown - VUS g.92488007C>G - TRIP11(NM_004239.4):c.481G>C (p.(Asp161His)) - TRIP11_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.586C>T r.(?) p.(Gln196*) Parent #2 - pathogenic (recessive) g.92487902G>A g.92021558G>A [586C>T];[2993_2994del] - TRIP11_000035 - - - - Germline - - - - - DNA SEQ-NG Blood Skeletal dysplasia gene panel ODCD - - - F no Argentina - - - - - 1 Karen E. Heath
+/. - c.586C>T r.(?) p.(Gln196*) Parent #2 - pathogenic (recessive) g.92487902G>A g.92021558G>A [586C>T];[3426dup] - TRIP11_000035 - - - - Germline - - - - - DNA SEQ-NG - skeletal dysplasia gene panel ODCD - family, 2 affected siblings - - - - - - - - - 2 Karen E. Heath
?/. - c.589-875A>G r.spl? p.(=) Both (homozygous) - VUS g.92484969T>C g.92018625T>C - - TRIP11_000073 - PubMed: Jacob 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - duo WES, WGS skeletal dysplasia Fam127 PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - 1 Johan den Dunnen
-?/. - c.657+9A>C r.(=) p.(=) Unknown - likely benign g.92484017T>G - TRIP11(NM_004239.4):c.657+9A>C - TRIP11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.763C>T r.(?) p.(Arg255*) Both (homozygous) - likely pathogenic (recessive) g.92482100G>A g.92015756G>A NM_004239.3:c.763C>T:p.(Arg255*) - TRIP11_000044 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0205 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
?/. - c.769_771del r.(?) p.(Glu257del) Unknown - VUS g.92482096_92482098del - TRIP11(NM_004239.3):c.769_771del (p.(Glu257del)) - TRIP11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.950A>T r.(?) p.(Asp317Val) Unknown - VUS g.92480795T>A - TRIP11(NM_001321851.1):c.947A>T (p.(Asp316Val)) - TRIP11_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1031_1034del r.(?) p.(Arg344LysfsTer2) Unknown - pathogenic g.92480712_92480715del g.92014368_92014371del - - TRIP11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1116del r.1116del p.(Glu373Lysfs*29) Parent #1 ACMG pathogenic (recessive) g.92480629del g.92014285del [1116del];[2993_2994del] - TRIP11_000038 compound heterozygote - - - Germline - - - - - DNA SEQ-NG - skeletal dysplasia gene panel ODCD - - - - - - - - - - - 1 Karen E. Heath
?/. - c.1280T>C r.(?) p.(Leu427Ser) Unknown - VUS g.92477364A>G g.92011020A>G TRIP11(NM_001321851.1):c.1277T>C (p.(Leu426Ser)), TRIP11(NM_004239.4):c.1280T>C (p.L427S) - TRIP11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1280T>C r.(?) p.(Leu427Ser) Unknown - VUS g.92477364A>G - TRIP11(NM_001321851.1):c.1277T>C (p.(Leu426Ser)), TRIP11(NM_004239.4):c.1280T>C (p.L427S) - TRIP11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1301T>C r.(?) p.(Leu434Pro) Unknown - VUS g.92477343A>G g.92010999A>G - - TRIP11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1517A>C r.(?) p.(Glu506Ala) Unknown - benign g.92473994T>G g.92007650T>G TRIP11(NM_001321851.1):c.1514A>C (p.(Glu505Ala)) - TRIP11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1517A>C r.(?) p.(Glu506Ala) Parent #1 - benign g.92473994T>G g.92007650T>G - - TRIP11_000022 144 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2273186 Germline - 144/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 144 Mohammed Faruq
-/. - c.1517A>C r.(?) p.(Glu506Ala) Both (homozygous) - benign g.92473994T>G g.92007650T>G - - TRIP11_000022 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2273186 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.1527+6A>G r.(=) p.(=) Unknown - benign g.92473978T>C - TRIP11(NM_001321851.1):c.1524+6A>G (p.(=)) - TRIP11_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1528-4dup r.spl? p.? Unknown - likely benign g.92472798dup - TRIP11(NM_004239.4):c.1528-4dup - TRIP11_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1904C>G r.(?) p.(Ser635Cys) Unknown - likely benign g.92472416G>C - TRIP11(NM_001321851.1):c.1901C>G (p.(Ser634Cys)) - TRIP11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1938_1941del r.(?) p.(Arg647Lysfs*7) Paternal (inferred) - likely pathogenic g.92472384_92472387del g.92006040_92006043del - - TRIP11_000001 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACG1A 1 - - M no Brazil - - - - - 1 Karina Silveira
-?/. - c.2029A>G r.(?) p.(Met677Val) Unknown - likely benign g.92472291T>C - TRIP11(NM_001321851.1):c.2026A>G (p.(Met676Val)) - TRIP11_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2044T>C r.(?) p.(Leu682=) Unknown - likely benign g.92472276A>G - TRIP11(NM_004239.4):c.2044T>C (p.L682=) - TRIP11_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2075A>G r.(?) p.(Gln692Arg) Unknown - VUS g.92472245T>C - TRIP11(NM_001321851.1):c.2072A>G (p.(Gln691Arg)) - TRIP11_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2102A>G r.(?) p.(Asn701Ser) Unknown - likely benign g.92472218T>C - TRIP11(NM_001321851.1):c.2099A>G (p.(Asn700Ser)) - TRIP11_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2134G>A r.(?) p.(Glu712Lys) Unknown - likely benign g.92472186C>T g.92005842C>T TRIP11(NM_001321851.1):c.2131G>A (p.(Glu711Lys)), TRIP11(NM_004239.4):c.2134G>A (p.E712K) - TRIP11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2134G>A r.(?) p.(Glu712Lys) Unknown - likely benign g.92472186C>T g.92005842C>T TRIP11(NM_001321851.1):c.2131G>A (p.(Glu711Lys)), TRIP11(NM_004239.4):c.2134G>A (p.E712K) - TRIP11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2134G>A r.(?) p.(Glu712Lys) Parent #1 - likely benign g.92472186C>T g.92005842C>T - - TRIP11_000007 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143524436 Germline - 15/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-?/. - c.2494G>A r.(?) p.(Asp832Asn) Unknown - likely benign g.92471826C>T - TRIP11(NM_004239.4):c.2494G>A (p.D832N) - TRIP11_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2542A>G r.(?) p.(Ile848Val) Unknown - likely benign g.92471778T>C - TRIP11(NM_004239.3):c.2542A>G (p.(Ile848Val)) - TRIP11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2651A>G r.(?) p.(Asp884Gly) Unknown - likely benign g.92471669T>C g.92005325T>C TRIP11(NM_004239.3):c.2651A>G (p.(Asp884Gly)) - TRIP11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2756T>C r.(?) p.(Ile919Thr) Unknown - VUS g.92471564A>G - TRIP11(NM_004239.4):c.2756T>C (p.(Ile919Thr)) - TRIP11_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2978T>C r.(?) p.(Ile993Thr) Unknown - VUS g.92471342A>G - TRIP11(NM_004239.4):c.2978T>C (p.I993T) - TRIP11_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.2993_2994del r.2993_2994del p.Lys998Serfs*5 Parent #1 ACMG pathogenic (recessive) g.92471328_92471329del g.92004984_92004985del [586C>T];[2993_2994del] - TRIP11_000036 compound heterozygote - - - Germline - - - - - DNA SEQ-NG Blood Skeletal dysplasia gene panel ODCD - - - F no Argentina - - - - - 1 Karen E. Heath
+/. - c.2993_2994del r.(?) p.(Lys998Serfs*5) Parent #2 - pathogenic (recessive) g.92471328_92471329del g.92004984_92004985del [1116del];[2993_2994del] - TRIP11_000036 - - - - Germline - - - - - DNA SEQ-NG - skeletal dysplasia gene panel ODCD - - - - - - - - - - - 1 Karen E. Heath
?/. - c.3091G>A r.(?) p.(Glu1031Lys) Unknown - VUS g.92471229C>T - TRIP11(NM_001321851.1):c.3088G>A (p.(Glu1030Lys)) - TRIP11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3100C>T r.(?) p.(Leu1034Phe) Unknown - likely benign g.92471220G>A - TRIP11(NM_004239.3):c.3100C>T (p.(Leu1034Phe)) - TRIP11_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3120A>G r.(?) p.(Ile1040Met) Unknown - likely benign g.92471200T>C g.92004856T>C TRIP11(NM_004239.3):c.3120A>G (p.(Ile1040Met)) - TRIP11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3161T>G r.(?) p.(Val1054Gly) Unknown - VUS g.92471159A>C - TRIP11(NM_004239.3):c.3161T>G (p.(Val1054Gly)) - TRIP11_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3380C>T r.(?) p.(Ala1127Val) Unknown - VUS g.92470940G>A - TRIP11(NM_001321851.1):c.3377C>T (p.(Ala1126Val)) - TRIP11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3426dup r.3426dup p.Leu1143Ilefs*4 Parent #1 ACMG pathogenic (recessive) g.92470899dup g.92004555dup [586C>T];[3426dup] - TRIP11_000037 compound heterozygotes - - - Germline - - - - - DNA SEQ-NG - skeletal dysplasia gene panel ODCD - family, 2 affected siblings - - - - - - - - - 2 Karen E. Heath
?/. - c.3704T>C r.(?) p.(Met1235Thr) Unknown - VUS g.92470616A>G g.92004272A>G TRIP11(NM_004239.3):c.3704T>C (p.(Met1235Thr)) - TRIP11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3823G>A r.(?) p.(Glu1275Lys) Unknown - VUS g.92470497C>T - TRIP11(NM_004239.3):c.3823G>A (p.(Glu1275Lys)) - TRIP11_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4062A>C r.(?) p.(Lys1354Asn) Unknown - VUS g.92470258T>G - TRIP11(NM_004239.3):c.4062A>C (p.(Lys1354Asn)) - TRIP11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4139C>T r.(?) p.(Thr1380Ile) Parent #1 - VUS g.92470181G>A g.92003837G>A - - TRIP11_000030 conflicting interpretations of pathogenicity; 18 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117748213 Germline - 18/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 18 Mohammed Faruq
-?/. - c.4159G>A r.(?) p.(Glu1387Lys) Unknown - likely benign g.92470161C>T g.92003817C>T TRIP11(NM_004239.3):c.4159G>A (p.(Glu1387Lys)) - TRIP11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4205_4206del r.(?) p.(Gln1402Argfs*8) Both (homozygous) - likely pathogenic (recessive) g.92470114_92470115del g.92003770_92003771del NM_004239.3:c.4205_4206del:p.(Gln1402Argfs*8) - TRIP11_000041 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG1394 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
?/. - c.4297A>G r.(?) p.(Lys1433Glu) Unknown - VUS g.92470023T>C - TRIP11(NM_004239.3):c.4297A>G (p.(Lys1433Glu)) - TRIP11_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4402dup r.(?) p.(Ile1468AsnfsTer19) Unknown - pathogenic g.92469923dup g.92003579dup TRIP11(NM_004239.4):c.4402dupA (p.I1468Nfs*19) - TRIP11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.4508_4511del r.(?) p.(Met1503Argfs*11) Maternal (confirmed) - likely pathogenic g.92469811_92469814del g.92003467_92003470del g.92472378del - TRIP11_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - ACG1A 1 - - M no Brazil - - - - - 1 Karina Silveira
-?/. - c.4727G>A r.(?) p.(Arg1576His) Unknown - likely benign g.92465749C>T g.91999405C>T TRIP11(NM_004239.3):c.4727G>A (p.(Arg1576His)) - TRIP11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4727G>A r.(?) p.(Arg1576His) Parent #1 - VUS g.92465749C>T g.91999405C>T - - TRIP11_000015 conflicting interpretations of pathogenicity; 37 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35007347 Germline - 37/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 37 Mohammed Faruq
?/. - c.4727G>A r.(?) p.(Arg1576His) Both (homozygous) - VUS g.92465749C>T g.91999405C>T - - TRIP11_000015 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35007347 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.4779T>G r.(?) p.(Asp1593Glu) Unknown - VUS g.92465697A>C - TRIP11(NM_001321851.1):c.4776T>G (p.(Asp1592Glu)) - TRIP11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4998A>G r.(?) p.(Val1666=) Unknown - likely benign g.92461754T>C - TRIP11(NM_004239.4):c.4998A>G (p.V1666=) - TRIP11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5086G>A r.(?) p.(Glu1696Lys) Unknown - likely benign g.92460227C>T - TRIP11(NM_001321851.1):c.5083G>A (p.(Glu1695Lys)) - TRIP11_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5137G>C r.(?) p.(Glu1713Gln) Unknown - likely benign g.92460176C>G g.91993832C>G TRIP11(NM_001321851.1):c.5134G>C (p.(Glu1712Gln)) - TRIP11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5255G>A r.(?) p.(Arg1752Lys) Unknown - benign g.92454633C>T g.91988289C>T TRIP11(NM_001321851.1):c.5252G>A (p.(Arg1751Lys)) - TRIP11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5260+5034A>T r.spl? p.(=) Both (homozygous) - VUS g.92449594T>A g.91983250T>A - - TRIP11_000072 - PubMed: Jacob 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - duo WES, WGS skeletal dysplasia Fam127 PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - 1 Johan den Dunnen
-?/. - c.5298G>T r.(?) p.(Lys1766Asn) Unknown - likely benign g.92442496C>A g.91976152C>A TRIP11(NM_004239.4):c.5298G>T (p.K1766N) - TRIP11_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5343-314T>C r.spl? p.(=) Both (homozygous) - VUS g.92441944A>G g.91975600A>G - - TRIP11_000071 - PubMed: Jacob 2025 SCV003929457.1 - Germline - - - - - DNA SEQ, SEQ-NG - duo WES, WGS skeletal dysplasia Fam127 PubMed: Jacob 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents - - India - - - - - 1 Johan den Dunnen
-?/. - c.5372A>G r.(?) p.(His1791Arg) Unknown - likely benign g.92441601T>C g.91975257T>C TRIP11(NM_004239.3):c.5372A>G (p.(His1791Arg)) - TRIP11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5396G>C r.(?) p.(Arg1799Pro) Unknown - VUS g.92441577C>G - TRIP11(NM_004239.4):c.5396G>C (p.(Arg1799Pro)) - TRIP11_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5411G>A r.(?) p.(Arg1804Gln) Unknown - likely benign g.92441562C>T - TRIP11(NM_001321851.1):c.5408G>A (p.(Arg1803Gln)) - TRIP11_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5420G>T r.(?) p.(Gly1807Val) Both (homozygous) - likely pathogenic (recessive) g.92441553C>A g.91975209C>A NM_004239.3:c.5420G>T:p.(Gly1807Val) - TRIP11_000040 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 16DG0956 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
-/. - c.5479G>A r.(?) p.(Gly1827Ser) Unknown - benign g.92441066C>T g.91974722C>T TRIP11(NM_004239.4):c.5479G>A (p.G1827S) - TRIP11_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5537C>T r.(?) p.(Thr1846Ile) Parent #1 - VUS g.92441008G>A g.91974664G>A - - TRIP11_000029 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141259390 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
?/. - c.5537C>T r.(?) p.(Thr1846Ile) Unknown - VUS g.92441008G>A - TRIP11(NM_001321851.1):c.5534C>T (p.(Thr1845Ile)) - TRIP11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5544G>C r.(?) p.(Leu1848Phe) Unknown - likely benign g.92441001C>G g.91974657C>G TRIP11(NM_004239.3):c.5544G>C (p.(Leu1848Phe)) - TRIP11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5629C>A r.(?) p.(Pro1877Thr) Unknown - likely benign g.92439151G>T - TRIP11(NM_004239.3):c.5629C>A (p.(Pro1877Thr)) - TRIP11_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5651A>G r.(?) p.(His1884Arg) Unknown - likely benign g.92439129T>C - TRIP11(NM_004239.3):c.5651A>G (p.(His1884Arg)) - TRIP11_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5657T>C r.(?) p.(Met1886Thr) Unknown - likely benign g.92439123A>G g.91972779A>G TRIP11(NM_004239.3):c.5657T>C (p.(Met1886Thr)) - TRIP11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5738C>G r.(?) p.(Ser1913Cys) Unknown - likely benign g.92436219G>C - TRIP11(NM_004239.3):c.5738C>G (p.(Ser1913Cys)) - TRIP11_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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