Full data view for gene ANTXR1

Information The variants shown are described using the NM_032208.2 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Owner     
+/. - c.12_30dup r.(?) p.(Ile11GlyfsTer40) Both (homozygous) - pathogenic (recessive) g.69240643_69240661dup g.69013511_69013529dup 12_30dupGGAGCGGAGAGCCCTCGGC - ANTXR1_000040 - PubMed: Abdel-Hamid 2019, PubMed: El-Moataz Bellah Ahmed 2024 - - Germline - - - - - DNA SEQ - - NDD Fam2Pat2; Pat3 PubMed: Abdel-Hamid 2019, PubMed: El-Moataz Bellah Ahmed 2024 4-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Egypt - - - - - 2 Johan den Dunnen
+/. - c.12_30dup r.(?) p.(Ile11GlyfsTer40) Both (homozygous) - pathogenic (recessive) g.69240643_69240661dup g.69013511_69013529dup 12_30dupGGAGCGGAGAGCCCTCGGC - ANTXR1_000040 - PubMed: Abdel-Hamid 2019 - - Germline - - - - - DNA SEQ - - NDD Fam2Pat3 PubMed: Abdel-Hamid 2019 sister F yes Egypt - - - - - 1 Johan den Dunnen
-?/. - c.18G>A r.(?) p.(Arg6=) Unknown - likely benign g.69240649G>A - ANTXR1(NM_032208.2):c.18G>A (p.R6=) - ANTXR1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.20G>A r.(?) p.(Arg7Lys) Unknown - benign g.69240651G>A g.69013519G>A ANTXR1(NM_032208.3):c.20G>A (p.R7K) - ANTXR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.34G>A r.(?) p.(Gly12Ser) Unknown - VUS g.69240665G>A - ANTXR1(NM_032208.2):c.34G>A (p.(Gly12Ser)) - ANTXR1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.89dup r.(?) p.(Arg31ThrfsTer14) Both (homozygous) - pathogenic (recessive) g.69240720dup g.69013588dup 89dupG - ANTXR1_000041 - PubMed: Abdel-Hamid 2019 - - Germline - - - - - DNA SEQ - - NDD Fam1Pat1 PubMed: Abdel-Hamid 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Egypt - - - - - 1 Johan den Dunnen
+/. 1i c.152+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.69240784G>A g.69013652G>A - - ANTXR1_000043 - PubMed: Abdel-Hamid 2019 - - Germline - - - - - DNA SEQ - - NDD Fam5Pat7 PubMed: Abdel-Hamid 2019 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - 1 Johan den Dunnen
+/. 1i c.152+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.69240785T>C g.69013653T>C - - ANTXR1_000044 - PubMed: Abdel-Hamid 2019 - - Germline - - - - - DNA SEQ - - NDD Fam3Pat4 PubMed: Abdel-Hamid 2019 4-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Egypt - - - - - 2 Johan den Dunnen
+/. 1i c.152+2T>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.69240785T>C g.69013653T>C - - ANTXR1_000044 - PubMed: Abdel-Hamid 2019 - - Germline - - - - - DNA SEQ - - NDD Fam3Pat5 PubMed: Abdel-Hamid 2019 brother M yes Egypt - - - - - 1 Johan den Dunnen
+/. 1i c.152+3_152+6del r.spl p.? Both (homozygous) - pathogenic (recessive) g.69240782_69240785delAAGT g.69013650_69013653delAAGT 151_152+2delAAGT - ANTXR1_000042 - PubMed: Damagatla 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatIII2 PubMed: Damagatla 2024 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M no India - - - - - 2 Johan den Dunnen
+/. 1i c.152+3_152+6del r.spl p.? Both (homozygous) - pathogenic (recessive) g.69240782_69240785delAAGT g.69013650_69013653delAAGT 151_152+2delAAGT - ANTXR1_000042 - PubMed: Damagatla 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatIII3 PubMed: Damagatla 2024 sister F no India - - - - - 1 Johan den Dunnen
+/. 2i_3i c.(224+1_225-1)_(296+1_297-1)del p.(Ser75_Asp98del) p.(Ser75_Asp98del) Both (homozygous) - pathogenic (recessive) g.(69267248_69271873)_(69271946_69297778)del g.(69040116_69044741)_(69044814_69070646)del del ex3, 225_296del - ANTXR1_000045 - PubMed: Abdel-Hamid 2019 - - Germline - - - - - DNA SEQ - - NDD Fam4Pat6 PubMed: Abdel-Hamid 2019 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.262C>T r.(?) p.(Arg88*) Unknown - pathogenic g.69271911C>T - ANTXR1(NM_032208.3):c.262C>T (p.R88*) - ANTXR1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.262C>T r.(?) p.(Arg88Ter) Both (homozygous) - pathogenic (recessive) g.69271911C>T g.69044779C>T - - ANTXR1_000036 - PubMed: Stranecky 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Stranecky 2013 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.262C>T r.(?) p.(Arg88Ter) Both (homozygous) - pathogenic (recessive) g.69271911C>T g.69044779C>T - - ANTXR1_000036 - PubMed: Stranecky 2013 - - Germline - - - - - DNA SEQ - - NDD Pat3 PubMed: Stranecky 2013 6-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives M yes Egypt - - - - - 3 Johan den Dunnen
+/. - c.265G>A r.(?) p.(Gly89Arg) Both (homozygous) - pathogenic (recessive) g.69271914G>A g.69044782G>A - - ANTXR1_000046 - PubMed: Chattopadhyay 2017 - - Germline - - - - - DNA SEQ - - NDD FamPatV2 PubMed: Chattopadhyay 2017 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes India - - - - - 1 Johan den Dunnen
?/. - c.292G>A r.(?) p.(Asp98Asn) Unknown - VUS g.69271941G>A - ANTXR1(NM_032208.2):c.292G>A (p.(Asp98Asn)) - ANTXR1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i_6i c.(296+1_297-1)_(492+1_493-1)del r.(?) p.(Glu100LeufsTer16) Both (homozygous) - pathogenic (recessive) g.(69271946_69297778)_(69300234_69302721)del g.(69044814_69070646)_(69073102_69075589)del del ex4-6, (298+1_299–1)_(492+1_493–1)del - ANTXR1_000047 - PubMed: Modafferi 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD patient PubMed: Modafferi 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Italy - - - - - 1 Johan den Dunnen
-?/. - c.373G>C r.(?) p.(Glu125Gln) Unknown - likely benign g.69297855G>C - ANTXR1(NM_032208.2):c.373G>C (p.(Glu125Gln)) - ANTXR1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.378+3A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.69297863A>G g.69070731A>G - - ANTXR1_000048 - PubMed: Benetti-Pinto 2016 - - Germline - - - - - DNA SEQ - - NDD patient PubMed: Benetti-Pinto 2016 patient F yes Brazil - - - - - 1 Johan den Dunnen
+?/. - c.379-2del r.spl? p.? Unknown - likely pathogenic g.69298884del - ANTXR1(NM_032208.3):c.379-2del - ANTXR1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.410A>T r.(?) p.(Gln137Leu) Both (homozygous) - pathogenic (recessive) g.69298917A>T g.69071785A>T - - ANTXR1_000049 - PubMed: Salas-Alanís 2016 - - Germline - - - - - DNA SEQ - - NDD FamPatII1 PubMed: Salas-Alanís 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Mexico - - - - - 2 Johan den Dunnen
+/. - c.410A>T r.(?) p.(Gln137Leu) Both (homozygous) - pathogenic (recessive) g.69298917A>T g.69071785A>T - - ANTXR1_000049 - PubMed: Salas-Alanís 2016 - - Germline - - - - - DNA SEQ - - NDD FamPatII2 PubMed: Salas-Alanís 2016 brother M - Mexico - - - - - 1 Johan den Dunnen
+/. 5 c.411A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.69298918A>G g.69071786A>G - - ANTXR1_000050 - PubMed: Bozkurt 2013, PubMed: Bayram 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat2;FamHOU2034BAB5141 PubMed: Bozkurt 2013, PubMed: Bayram 2014 4-generation family, 3 affected (2 brothers/sister), unaffected heterozygous carrier parents M yes Turkey - - - - - 3 Johan den Dunnen
+/. 5 c.411A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.69298918A>G g.69071786A>G - - ANTXR1_000050 - PubMed: Bozkurt 2013, PubMed: Bayram 2014 - - Germline - - - - - DNA SEQ - - NDD Fam2Pat3FamHOU2034BAB5142 PubMed: Bozkurt 2013, PubMed: Bayram 2014 brother M yes Turkey - - - - - 1 Johan den Dunnen
+/. 5 c.411A>G r.spl p.? Both (homozygous) - pathogenic (recessive) g.69298918A>G g.69071786A>G - - ANTXR1_000050 - PubMed: Bozkurt 2013, PubMed: Bayram 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat4;FamHOU2034BAB5143 PubMed: Bozkurt 2013, PubMed: Bayram 2014 sister F yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.430G>A r.(?) p.(Val144Ile) Unknown - VUS g.69300171G>A - ANTXR1(NM_032208.3):c.430G>A (p.(Val144Ile)) - ANTXR1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.450T>C r.(?) p.(Asp150=) Unknown - benign g.69300191T>C g.69073059T>C ANTXR1(NM_032208.3):c.450T>C (p.D150=) - ANTXR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.492+10G>A r.(=) p.(=) Unknown - benign g.69300243G>A g.69073111G>A ANTXR1(NM_032208.3):c.492+10G>A - ANTXR1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.505C>T r.(?) p.(Arg169Ter) Both (homozygous) - pathogenic (recessive) g.69302734C>T g.69075602C>T - - ANTXR1_000051 - PubMed: Stranecky 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Stranecky 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Czech Republic - - - - - 1 Johan den Dunnen
-?/. - c.561+7T>C r.(=) p.(=) Unknown - likely benign g.69302797T>C - ANTXR1(NM_032208.2):c.561+7T>C - ANTXR1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568del r.(?) p.(Arg190GlyfsTer12) Both (homozygous) - pathogenic (recessive) g.69304546del g.69077414del 568delC - ANTXR1_000052 - PubMed: Balakrishnan 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD patient PubMed: Balakrishnan 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes India - - - - - 1 Johan den Dunnen
?/. - c.623T>C r.(?) p.(Leu208Pro) Unknown - VUS g.69304601T>C - ANTXR1(NM_032208.2):c.623T>C (p.L208P) - ANTXR1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.664G>A r.(?) p.(Glu222Lys) Both (homozygous) - pathogenic (recessive) g.69318012G>A g.69090880G>A - - ANTXR1_000053 - PubMed: El-Moataz Bellah Ahmed 2024 - - Germline - - - - - DNA SEQ - - NDD FamPatIV1 PubMed: El-Moataz Bellah Ahmed 2024 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - 2 Johan den Dunnen
+/. - c.664G>A r.(?) p.(Glu222Lys) Both (homozygous) - pathogenic (recessive) g.69318012G>A g.69090880G>A - - ANTXR1_000053 - PubMed: El-Moataz Bellah Ahmed 2024 - - Germline - - - - - DNA SEQ - - NDD FamPatIV4 PubMed: El-Moataz Bellah Ahmed 2024 sister F yes Egypt - - - - - 1 Johan den Dunnen
-?/. - c.720C>T r.(?) p.(Val240=) Unknown - likely benign g.69329990C>T g.69102858C>T ANTXR1(NM_032208.2):c.720C>T (p.V240=) - ANTXR1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.748C>T r.(?) p.(Arg250Cys) Unknown - VUS g.69330018C>T - - - ANTXR1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>A r.(?) p.(Val252Met) Unknown - VUS g.69330024G>A - ANTXR1(NM_032208.2):c.754G>A (p.(Val252Met)) - ANTXR1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781A>G r.(?) p.(Ile261Val) Unknown - VUS g.69330051A>G - - - ANTXR1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849G>A r.(?) p.(Ala283=) Unknown - likely benign g.69350195G>A g.69123063G>A ANTXR1(NM_032208.3):c.849G>A (p.A283=) - ANTXR1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901G>A r.(?) p.(Asp301Asn) Unknown - likely benign g.69351725G>A - ANTXR1(NM_032208.2):c.901G>A (p.(Asp301Asn)) - ANTXR1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.949T>C r.(?) p.(Cys317Arg) Both (homozygous) - pathogenic (recessive) g.69351773T>C g.69124641T>C - - ANTXR1_000054 - PubMed: Yildiz 2022 - - Germline - - - - - DNA SEQ - - NDD FamPatII3 PubMed: Yildiz 2022 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.949T>C r.(?) p.(Cys317Arg) Both (homozygous) - pathogenic (recessive) g.69351773T>C g.69124641T>C - - ANTXR1_000054 - PubMed: Yildiz 2022 - - Germline - - - - - DNA SEQ - - NDD FamPatII5 PubMed: Yildiz 2022 sister F yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.975C>T r.(?) p.(Ile325=) Unknown - likely benign g.69379324C>T g.69152192C>T ANTXR1(NM_032208.2):c.975C>T (p.I325=) - ANTXR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976G>A r.(?) p.(Ala326Thr) Unknown - VUS g.69379325G>A g.69152193G>A ANTXR1(NM_032208.3):c.976G>A (p.A326T) - ANTXR1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.976G>A r.976G>A p.Ala326Thr Parent #1 - VUS g.69379325G>A g.69152193G>A - - ANTXR1_000017 in vitro functional analysis shows increased interactions among VEGFR2, TEM8 and beta1 integrin proteins and in inhibition of integrin activity PubMed: Jinnin 2008 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - ? patient PubMed: Jinnin 2008 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.978C>T r.(?) p.(Ala326=) Unknown - likely benign g.69379327C>T g.69152195C>T ANTXR1(NM_032208.2):c.978C>T (p.A326=) - ANTXR1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031C>G r.(?) p.(Pro344Arg) Unknown - VUS g.69379380C>G - ANTXR1(NM_032208.3):c.1031C>G (p.P344R) - ANTXR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073C>T r.(?) p.(Pro358Leu) Unknown - VUS g.69397405C>T g.69170273C>T ANTXR1(NM_032208.2):c.1073C>T (p.P358L) - ANTXR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1099G>T r.(?) p.(Asp367Tyr) Unknown - VUS g.69408927G>T - ANTXR1(NM_032208.3):c.1099G>T (p.D367Y) - ANTXR1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131G>A r.(?) p.(Thr377=) Unknown - likely benign g.69408959G>A - ANTXR1(NM_032208.2):c.1131G>A (p.T377=) - ANTXR1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1150G>A r.(?) p.(Gly384Ser) Both (homozygous) - pathogenic (recessive) g.69408978G>A g.69181846G>A - - ANTXR1_000055 - PubMed: Ilker 1999, PubMed: Bayram 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatIV6;FamHOU2085BAB5348 PubMed: Ilker 1999, PubMed: Bayram 2014 4-generation family, 3 affected (brother/sister/cousin) M yes Turkey - - - - - 3 Johan den Dunnen
+/. - c.1150G>A r.(?) p.(Gly384Ser) Both (homozygous) - pathogenic (recessive) g.69408978G>A g.69181846G>A - - ANTXR1_000055 - PubMed: Ilker 1999, PubMed: Bayram 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamPatIV6;FamHOU2085BAB5349 PubMed: Ilker 1999, PubMed: Bayram 2014 paternal cousin M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1150G>A r.(?) p.(Gly384Ser) Both (homozygous) - pathogenic (recessive) g.69408978G>A g.69181846G>A - - ANTXR1_000055 - PubMed: Ilker 1999 - - Germline - - - - - DNA SEQ - - NDD FamPatIV10 PubMed: Ilker 1999 sister F yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.1185+16C>A r.(=) p.(=) Unknown - benign g.69409029C>A g.69181897C>A ANTXR1(NM_032208.3):c.1185+16C>A - ANTXR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1190G>A r.(?) p.(Arg397His) Unknown - VUS g.69409629G>A g.69182497G>A ANTXR1(NM_032208.2):c.1190G>A (p.(Arg397His)) - ANTXR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1221dup r.(?) p.(Ala408CysfsTer2) Both (homozygous) - pathogenic (recessive) g.69409660dup g.69182528dup 1220_1221insT - ANTXR1_000056 - PubMed: Bozkurt 2013, PubMed: Bayram 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1;FamHOU2001PatBAB5033 PubMed: Bozkurt 2013, PubMed: Bayram 2014 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1224T>G r.(?) p.(Ala408=) Unknown - likely benign g.69409663T>G g.69182531T>G ANTXR1(NM_032208.2):c.1224T>G (p.A408=) - ANTXR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1245T>C r.(?) p.(Asn415=) Unknown - likely benign g.69409684T>C - ANTXR1(NM_032208.2):c.1245T>C (p.N415=) - ANTXR1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1305_1307del r.(?) p.(Asn436del) Unknown - VUS g.69409744_69409746del g.69182612_69182614del ANTXR1(NM_032208.3):c.1305_1307del (p.(Asn436del)), ANTXR1(NM_032208.3):c.1305_1307delCAA (p.N436del) - ANTXR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1305_1307del r.(?) p.(Asn436del) Unknown - VUS g.69409744_69409746del - ANTXR1(NM_032208.3):c.1305_1307del (p.(Asn436del)), ANTXR1(NM_032208.3):c.1305_1307delCAA (p.N436del) - ANTXR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1312C>T r.(?) p.(Arg438Cys) Unknown - VUS g.69409751C>T - ANTXR1(NM_032208.3):c.1312C>T (p.(Arg438Cys)) - ANTXR1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1312C>T r.(?) p.(Arg438Cys) Both (homozygous) - pathogenic (recessive) g.69409751C>T g.69182619C>T - - ANTXR1_000028 - PubMed: Dinckan 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD patient PubMed: Dinckan 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1368C>T r.(?) p.(Ala456=) Unknown - likely benign g.69420481C>T - ANTXR1(NM_032208.2):c.1368C>T (p.A456=) - ANTXR1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1433C>T r.(?) p.(Thr478Met) Unknown - VUS g.69420546C>T - ANTXR1(NM_032208.2):c.1433C>T (p.(Thr478Met)) - ANTXR1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1434+9C>T r.(=) p.(=) Unknown - likely benign g.69420556C>T g.69193424C>T ANTXR1(NM_032208.2):c.1434+9C>T, ANTXR1(NM_032208.3):c.1434+9C>T - ANTXR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1434+9C>T r.(=) p.(=) Unknown - likely benign g.69420556C>T - ANTXR1(NM_032208.2):c.1434+9C>T, ANTXR1(NM_032208.3):c.1434+9C>T - ANTXR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i c.1435-12A>G r.(1434_1435ins1435-11_1435-1) p.(Gly479PhefsTer119) Both (homozygous) - pathogenic (recessive) g.69472345A>G g.69245213A>G - - ANTXR1_000057 - PubMed: Stranecky 2013 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Stranecky 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Sri Lanka - - - - - 1 Johan den Dunnen
+/. 17i c.1435-2A>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.69472355A>T g.69245223A>T - - ANTXR1_000039 - PubMed: Smigiel 2019 - - Germline - - - - - DNA SEQ-NG - WES GAPOS patient PubMed: Smigiel 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother, unaffected non-carrier father F - Poland - - - - - 1 Johan den Dunnen
+/. 17i c.1435-2A>T r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.69472355A>T g.69245223A>T - - ANTXR1_000039 uniparental disomy of maternal chromosome 2 PubMed: Smigiel 2019 - - Uniparental disomy, maternal allele - - - - - DNA SEQ-NG - WES GAPOS patient PubMed: Smigiel 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother, unaffected non-carrier father F - Poland - - - - - 1 Johan den Dunnen
+?/. - c.1488dup r.(?) p.(Leu497Thrfs*86) Unknown - likely pathogenic g.69472410dup - ANTXR1(NM_032208.3):c.1488dup (p.(Leu497Thrfs*86)) - ANTXR1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1517C>T r.(?) p.(Pro506Leu) Unknown - likely benign g.69472439C>T g.69245307C>T ANTXR1(NM_032208.3):c.1517C>T (p.P506L) - ANTXR1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1534del r.(?) p.(Tyr512Thrfs*82) Unknown - VUS g.69472456del - ANTXR1(NM_032208.2):c.1534delT (p.(Tyr512fs)) - ANTXR1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1553C>T r.(?) p.(Ala518Val) Unknown - likely benign g.69472475C>T g.69245343C>T ANTXR1(NM_032208.3):c.1553C>T (p.A518V) - ANTXR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1554G>A r.(?) p.(Ala518=) Unknown - benign g.69472476G>A g.69245344G>A ANTXR1(NM_032208.3):c.1554G>A (p.A518=) - ANTXR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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