Full data view for gene ASPM

Information The variants shown are described using the NM_018136.4 transcript reference sequence.

866 entries on 9 pages. Showing entries 1 - 100.
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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     
+/. _1_28_ c.-257_*197{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_197053257)_(197115824_?)del g.(?_197084127)_(197146694_?)del del ASPM gene - ASPM_000280 - PubMed: Passemard 2009 - - Germline - - - - - DNA SEQ - - microcephaly Fam5 PubMed: Passemard 2009 - F no France - - - - - 1 Johan den Dunnen
?/. 1 c.59C>T r.(?) p.(Pro20Leu) Unknown - VUS g.197115509G>A g.197146379G>A - - ASPM_000432 no variant second chromosome PubMed: Tan 2014 - - Germline - 1/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 1 Johan den Dunnen
+/. - c.77del r.(?) p.(Gly26Alafs*42) Parent #1 - likely pathogenic (recessive) g.197115494del g.197146364del 77delG - ASPM_000252 - PubMed: Hiatt 2023, Journal: Hiatt 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat24 PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 2 affected, boy and affected carrier mother M - - - - - - - 2 Johan den Dunnen
+/. 1 c.77del r.(?) p.(Gly26AlafsTer42) Unknown - pathogenic (recessive) g.197115494del g.197146364del 74delG - ASPM_000252 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
+/. 1 c.77del r.(?) p.(Gly26AlafsTer42) Both (homozygous) - pathogenic (recessive) g.197115494del g.197146364del 77delG - ASPM_000252 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP95 PubMed: Kousar 2010 4-generation family, 3 affected (2F, M) - yes Pakistan - - - - - 3 Johan den Dunnen
+/. 1 c.77del r.(?) p.(Gly26AlafsTer42) Parent #1 - pathogenic (recessive) g.197115494del g.197146364del 77delG - ASPM_000252 - PubMed: Passemard 2009 - - Germline - - - - - DNA SEQ - - microcephaly Fam2 PubMed: Passemard 2009 - M no France - - - - - 1 Johan den Dunnen
-?/. - c.81C>A r.(?) p.(Pro27=) Unknown - likely benign g.197115487G>T g.197146357G>T ASPM(NM_018136.4):c.81C>A (p.P27=) - ASPM_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112G>A r.(?) p.(Val38Ile) Unknown - likely benign g.197115456C>T g.197146326C>T ASPM(NM_018136.4):c.112G>A (p.V38I) - ASPM_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.117_118del r.(?) p.(Leu41GlnfsTer30) Both (homozygous) - pathogenic (recessive) g.197115451_197115452del g.197146321_197146322del - - ASPM_000431 - PubMed: Tan 2014 - - Germline - 1/78 chromosomes MCPH - - - DNA SEQ - - microcephaly Fam14 PubMed: Tan 2014 family - yes - Hispanic - - - - 1 Johan den Dunnen
-?/. - c.135C>T r.(?) p.(Cys45=) Unknown - likely benign g.197115433G>A g.197146303G>A ASPM(NM_018136.4):c.135C>T (p.C45=) - ASPM_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.147C>A r.(?) p.(Phe49Leu) Unknown - VUS g.197115421G>T - ASPM(NM_018136.5):c.147C>A (p.(Phe49Leu)) - ASPM_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223G>A r.(?) p.(Ala75Thr) Unknown - VUS g.197115345C>T g.197146215C>T ASPM(NM_001206846.1):c.223G>A (p.(Ala75Thr)), ASPM(NM_018136.4):c.223G>A (p.A75T), ASPM(NM_018136.5):c.223G>A (p.A75T) - ASPM_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.223G>A r.(?) p.(Ala75Thr) Unknown - VUS g.197115345C>T g.197146215C>T ASPM(NM_001206846.1):c.223G>A (p.(Ala75Thr)), ASPM(NM_018136.4):c.223G>A (p.A75T), ASPM(NM_018136.5):c.223G>A (p.A75T) - ASPM_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.223G>A r.(?) p.(Ala75Thr) Unknown - VUS g.197115345C>T g.197146215C>T - - ASPM_000159 no variant second chromosome PubMed: Tan 2014 - rs61995747 Germline - 1/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.223G>A r.(?) p.(Ala75Thr) Unknown - likely benign g.197115345C>T - ASPM(NM_001206846.1):c.223G>A (p.(Ala75Thr)), ASPM(NM_018136.4):c.223G>A (p.A75T), ASPM(NM_018136.5):c.223G>A (p.A75T) - ASPM_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.277del r.(?) p.(Gln93SerfsTer26) Both (homozygous) - likely pathogenic g.197115291del g.197146161del 277delC - ASPM_000238 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-887 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 1i c.297+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.197115270C>G g.197146140C>G - - ASPM_000430 - PubMed: Darvish 2010 - - Germline - - - - - DNA SEQ - - microcephaly M-8700113 PubMed: Darvish 2010 family, 2 affected - yes Iran - - - - - 2 Johan den Dunnen
+/. 1i_13i c.298-581_3391-242del r.? p.? Unknown - pathogenic (recessive) g.197091967_197113811del g.197122837_197144681del 297+1460_3391-242del21844 - ASPM_000377 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
?/. 1i c.298-68G>A r.spl? p.? Unknown - VUS g.197113298C>T g.197144168C>T - - ASPM_000429 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - 2/42 families MCPH - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 - - - - - - - - - 2 Johan den Dunnen
?/. 2 c.339C>G r.(?) p.(Leu113=) Unknown - VUS g.197113189G>C g.197144059G>C - - ASPM_000428 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - 1/42 families MCPH - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.349C>T r.(?) p.(Arg117Ter) Both (homozygous) - pathogenic (recessive) g.197113179G>A g.197144049G>A - - ASPM_000278 - PubMed: Bond 2003 - - Germline - - - - - DNA SEQ - - microcephaly Fam1 PubMed: Bond 2003 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.349C>T r.(?) p.(Arg117*) Both (homozygous) - pathogenic (recessive) g.197113179G>A g.197144049G>A - - ASPM_000278 - PubMed: Kumar 2004 - - Germline yes - - - - DNA SEQ - - microcephaly Fam12PatV1 PubMed: Kumar 2004 5-generation family, affected sister/brother, unaffected heterozygous parents/relatives F yes India - - - - - 2 Johan den Dunnen
+/. - c.349C>T r.(?) p.(Arg117*) Both (homozygous) - pathogenic (recessive) g.197113179G>A g.197144049G>A - - ASPM_000278 - PubMed: Kumar 2004 - - Germline yes - - - - DNA SEQ - - microcephaly Fam12PatV2 PubMed: Kumar 2004 brother M - India - - - - - 1 Johan den Dunnen
+/. 2 c.440del r.(?) p.(Lys147ArgfsTer54) Unknown - pathogenic (recessive) g.197113092del g.197143962del 440delA - ASPM_000427 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
?/. - c.441G>T r.(?) p.(Lys147Asn) Unknown - VUS g.197113087C>A - ASPM(NM_018136.4):c.441G>T (p.K147N) - ASPM_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441+14C>T r.(=) p.(=) Unknown - benign g.197113073G>A g.197143943G>A ASPM(NM_018136.4):c.441+14C>T, ASPM(NM_018136.5):c.441+14C>T - ASPM_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441+14C>T r.(=) p.(=) Unknown - benign g.197113073G>A g.197143943G>A ASPM(NM_018136.4):c.441+14C>T, ASPM(NM_018136.5):c.441+14C>T - ASPM_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441+14C>T r.(=) p.(=) Unknown - benign g.197113073G>A g.197143943G>A ASPM(NM_018136.4):c.441+14C>T, ASPM(NM_018136.5):c.441+14C>T - ASPM_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.441+23A>G r.(=) p.(=) Unknown - benign g.197113064T>C g.197143934T>C ASPM(NM_018136.4):c.441+23A>G - ASPM_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.451del r.(?) p.(Trp151Glyfs*50) Unknown - pathogenic g.197112933del - ASPM(NM_018136.5):c.451delT (p.W151Gfs*50) - ASPM_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502A>C r.(?) p.(Arg168=) Unknown - likely benign g.197112880T>G g.197143750T>G ASPM(NM_018136.4):c.502A>C (p.R168=) - ASPM_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.577C>T r.(?) p.(Gln193Ter) Unknown - pathogenic (recessive) g.197112805G>A g.197143675G>A - - ASPM_000426 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
+?/. - c.577C>T r.(?) p.(Gln193*) Unknown - likely pathogenic g.197112805G>A - ASPM(NM_018136.4):c.577C>T (p.(Gln193Ter)) - ASPM_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.581C>A r.(?) p.(Ala194Asp) Unknown - likely benign g.197112801G>T g.197143671G>T ASPM(NM_018136.4):c.581C>A (p.A194D) - ASPM_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.601A>G r.(?) p.(Asn201Asp) Unknown - VUS g.197112781T>C g.197143651T>C - - ASPM_000425 - PubMed: Tan 2014 - - Germline - 1/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 patient - - - - - - - - 1 Johan den Dunnen
-/. - c.606G>A r.(?) p.(Glu202=) Both (homozygous) - benign g.197112776T>C g.197143646T>C 605G>A - ASPM_000424 - PubMed: Gul 2006 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Gul 2006 - - - Pakistan - - - - - 1 Johan den Dunnen
?/. 3 c.609C>T r.(?) p.(Gly203=) Unknown - VUS g.197112773G>A g.197143643G>A - - ASPM_000423 no variant second chromosome PubMed: Tan 2014 - - Germline - 1/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.637del r.(?) p.(Ile213TyrfsTer47) Both (homozygous) - pathogenic (recessive) g.197112746del g.197143616del - - ASPM_000422 - PubMed: Tan 2014 - - Germline - 2/78 chromosomes MCPH - - - DNA SEQ - - microcephaly Fam3 PubMed: Tan 2014 family - no Somalia - - - - - 1 Johan den Dunnen
+/. 3 c.637del r.(?) p.(Ile213TyrfsTer47) Both (homozygous) - pathogenic (recessive) g.197112746del g.197143616del - - ASPM_000422 - PubMed: Tan 2014 - - Germline - 2/78 chromosomes MCPH - - - DNA SEQ - - microcephaly Fam13 PubMed: Tan 2014 family - - Somalia - - - - - 1 Johan den Dunnen
?/. - c.644A>C r.(?) p.(Glu215Ala) Unknown - VUS g.197112738T>G g.197143608T>G ASPM(NM_001206846.1):c.644A>C (p.(Glu215Ala)) - ASPM_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.646G>A r.(?) p.(Glu216Lys) Unknown - VUS g.197112736C>T g.197143606C>T - - ASPM_000421 no variant second chromosome PubMed: Tan 2014 - rs151050191 Germline - 2/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 2 Johan den Dunnen
?/. - c.676C>T r.(?) p.(Pro226Ser) Unknown - VUS g.197112706G>A g.197143576G>A ASPM(NM_018136.4):c.676C>T (p.P226S) - ASPM_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.688del r.(?) p.(Glu230AsnfsTer30) Both (homozygous) - pathogenic (recessive) g.197112694del g.197143564del 688delG - ASPM_000420 - PubMed: Abdel-Hamid 2016 - - Germline - - - - - DNA SEQ - - microcephaly Fam1Pat1 PubMed: Abdel-Hamid 2016 family, 1 affected F yes Egypt - - - - - 1 Johan den Dunnen
+/. 3 c.688del r.(?) p.(Glu230AsnfsTer30) Parent #1 - pathogenic (recessive) g.197112694del g.197143564del 688delG - ASPM_000420 - PubMed: Abdel-Hamid 2016 - - Germline - - - - - DNA SEQ - - microcephaly Fam2Pat2 PubMed: Abdel-Hamid 2016 family, 2 affected F no Egypt - - - - - 2 Johan den Dunnen
+/. 3 c.688del r.(?) p.(Glu230AsnfsTer30) Parent #1 - pathogenic (recessive) g.197112694del g.197143564del 688delG - ASPM_000420 - PubMed: Abdel-Hamid 2016 - - Germline - - - - - DNA SEQ - - microcephaly Fam2Pat3 PubMed: Abdel-Hamid 2016 sib F - Egypt - - - - - 1 Johan den Dunnen
+/. 3 c.688del r.(?) p.(Glu230AsnfsTer30) Parent #1 - pathogenic (recessive) g.197112694del g.197143564del 688delG - ASPM_000420 - PubMed: Abdel-Hamid 2016 - - Germline - - - - - DNA SEQ - - microcephaly Fam3Pat4 PubMed: Abdel-Hamid 2016 family, 1 affected F no Egypt - - - - - 1 Johan den Dunnen
-?/. - c.712C>T r.(?) p.(Pro238Ser) Unknown - likely benign g.197112670G>A g.197143540G>A ASPM(NM_018136.4):c.712C>T (p.P238S), ASPM(NM_018136.5):c.712C>T (p.(Pro238Ser)) - ASPM_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712C>T r.(?) p.(Pro238Ser) Unknown - VUS g.197112670G>A - ASPM(NM_018136.4):c.712C>T (p.P238S), ASPM(NM_018136.5):c.712C>T (p.(Pro238Ser)) - ASPM_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.719_720del r.(?) p.(Ser240Cysfs*16) Both (homozygous) - pathogenic (recessive) g.197112666_197112667del g.197143536_197143537del 719-720delCT - ASPM_000272 - PubMed: Bond 2002 - - Germline - - - - - DNA SEQ - - microcephaly Fam1PatII1/2/3/4 PubMed: Bond 2002 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents F;M yes Pakistan - - - - - 4 Johan den Dunnen
-?/. - c.774A>C r.(?) p.(Leu258=) Unknown - likely benign g.197112608T>G - ASPM(NM_018136.4):c.774A>C (p.L258=) - ASPM_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.803_804del r.(?) p.(Lys268SerfsTer4) Parent #1 - pathogenic (recessive) g.197112580_197112581del g.197143450_197143451del - - ASPM_000419 - PubMed: Tan 2014 - - Germline - 1/78 chromosomes MCPH - - - DNA SEQ - - microcephaly Fam12 PubMed: Tan 2014 family - no United States Mexico;African American - - - - 1 Johan den Dunnen
+/. 3 c.804_805del r.(?) p.(Lys268Asnfs*4) Unknown - pathogenic g.197112577_197112578del g.197143447_197143448del 804_805delAG - ASPM_000180 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
?/. - c.844A>C r.(?) p.(Asn282His) Unknown - VUS g.197112538T>G g.197143408T>G ASPM(NM_001206846.1):c.844A>C (p.(Asn282His)) - ASPM_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849C>T r.(?) p.(Ser283=) Unknown - benign g.197112533G>A g.197143403G>A ASPM(NM_018136.4):c.849C>T (p.S283=), ASPM(NM_018136.5):c.849C>T (p.S283=) - ASPM_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849C>T r.(?) p.(Ser283=) Unknown - benign g.197112533G>A g.197143403G>A ASPM(NM_018136.4):c.849C>T (p.S283=), ASPM(NM_018136.5):c.849C>T (p.S283=) - ASPM_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849C>T r.(?) p.(Ser283=) Unknown - benign g.197112533G>A g.197143403G>A ASPM(NM_018136.4):c.849C>T (p.S283=), ASPM(NM_018136.5):c.849C>T (p.S283=) - ASPM_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849C>T r.(=) p.(=) Both (homozygous) - benign g.197112533G>A - - - ASPM_000152 - PubMed: Shen 2005 - - Germline - - - - - DNA SEQ - - microcephaly family PubMed: Shen 2005 4-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M - Saudi Arabia - - - - - 3 Johan den Dunnen
-/. - c.849C>T r.(?) p.(Ser283=) Both (homozygous) - benign g.197112533G>A g.197143403G>A - - ASPM_000152 - PubMed: Gul 2006 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Gul 2006 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. 3 c.900delC r.(?) p.(Asn301ThrfsTer6) Unknown - pathogenic g.197112486del g.197143356del - - ASPM_000237 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1362 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.905G>A r.(?) p.(Cys302Tyr) Unknown - VUS g.197112477C>T g.197143347C>T ASPM(NM_001206846.1):c.905G>A (p.(Cys302Tyr)) - ASPM_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933C>G r.(?) p.(Ser311Arg) Unknown - likely benign g.197112449G>C g.197143319G>C ASPM(NM_001206846.1):c.933C>G (p.(Ser311Arg)), ASPM(NM_018136.4):c.933C>G (p.S311R) - ASPM_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.933C>G r.(?) p.(Ser311Arg) Unknown - VUS g.197112449G>C g.197143319G>C ASPM(NM_001206846.1):c.933C>G (p.(Ser311Arg)), ASPM(NM_018136.4):c.933C>G (p.S311R) - ASPM_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1002del r.(?) p.(Val335Ter) Both (homozygous) - pathogenic (recessive) g.197112380del g.197143250del 1002delA - ASPM_000418 - PubMed: Muhammad 2009 - - Germline - - - - - DNA SEQ - - microcephaly MCP2 PubMed: Muhammad 2009 5-generation family, 6 affected (F, 5M), unaffected heterozygous parents/relatives3 - yes Pakistan - - - - - 6 Johan den Dunnen
?/. - c.1007C>A r.(?) p.(Thr336Lys) Unknown - VUS g.197112375G>T g.197143245G>T ASPM(NM_001206846.1):c.1007C>A (p.(Thr336Lys)) - ASPM_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1138C>T r.(?) p.(Gln380Ter) Both (homozygous) - pathogenic (recessive) g.197112244G>A g.197143114G>A - - ASPM_000417 - PubMed: Tan 2014 - - Germline - 1/78 chromosomes MCPH - - - DNA SEQ - - microcephaly Fam26 PubMed: Tan 2014 family - - - Middle East - - - - 1 Johan den Dunnen
+/. 3 c.1138C>T r.(?) p.(Gln380Ter) Both (homozygous) - pathogenic (recessive) g.197112244G>A g.197143114G>A - - ASPM_000417 - PubMed: Letard 2018 - - Germline - - - - - DNA SEQ - - microcephaly Pat25 PubMed: Letard 2018 - F - - - - - - - 1 Johan den Dunnen
+/. 3 c.1154_1155del r.(?) p.(Glu385ValfsTer3) Parent #1 - pathogenic (recessive) g.197112229_197112230del g.197143099_197143100del 1152_53delAG - ASPM_000416 - PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
+/. 3 c.1179del r.(?) p.(Asn394IlefsTer4) Unknown - pathogenic (recessive) g.197112203del g.197143073del 1179delT - ASPM_000415 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
?/. 3 c.1201A>G r.(?) p.(Met401Val) Unknown - VUS g.197112181T>C g.197143051T>C - - ASPM_000414 no variant second chromosome PubMed: Tan 2014 - - Germline - 2/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 2 Johan den Dunnen
+/. - c.1235_1239del r.(?) p.(Arg1164LeufsTer15) Both (homozygous) - pathogenic (recessive) g.197112146_197112150del g.197143016_197143020del 1235_1239delAAGTA - ASPM_000413 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP131 PubMed: Ahmad 2017 5-generation family, 3 affected (F, 2M), unaffected heterozygous parents/relatives F;M yes Pakistan Pashtun - - - - 3 Johan den Dunnen
+/. - c.1260_1266del r.(?) p.(Gln421Hisfs*32) Both (homozygous) - pathogenic (recessive) g.197112118_197112124del g.197142988_197142994del 1258-1264delTCTCAAG - ASPM_000273 - PubMed: Bond 2002 - - Germline - - - - - DNA SEQ - - microcephaly Fam2 PubMed: Bond 2002 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1260_1266del r.(?) p.(Gln421Hisfs*32) Both (homozygous) - pathogenic (recessive) g.197112118_197112124del g.197142988_197142994del 1258delTCTCAAG - ASPM_000273 - PubMed: Bond 2003 - - Germline - - - - - DNA SEQ - - microcephaly Fam2 PubMed: Bond 2003 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. 3 c.1260_1266del r.(?) p.(Gln421HisfsTer32) Both (homozygous) - pathogenic (recessive) g.197112118_197112124del g.197142988_197142994del 1260delTCAAGTC - ASPM_000273 - PubMed: Gul 2006 - - Germline - - - - - DNA SEQ - - microcephaly MCP31 PubMed: Gul 2006 4-generation family, 2 affected brothers, unaffected heterozygous parents/relatives - yes Pakistan Punjab - - - - 2 Johan den Dunnen
+/. 3 c.1260_1266del r.(?) p.(Gln421HisfsTer32) Both (homozygous) - pathogenic (recessive) g.197112118_197112124del g.197142988_197142994del 1260-1266delTCAAGTC - ASPM_000273 - PubMed: Kousar 2010 - - Germline - - - - - DNA SEQ - - microcephaly MCP84? PubMed: Kousar 2010 family - yes Pakistan - - - - - 1 Johan den Dunnen
-/. - c.1288A>G r.(?) p.(Arg430Gly) Unknown - benign g.197112094T>C g.197142964T>C ASPM(NM_018136.4):c.1288A>G (p.R430G) - ASPM_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1366G>T r.(?) p.(Glu456Ter) Both (homozygous) - pathogenic (recessive) g.197112016C>A g.197142886C>A - - ASPM_000412 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly family;?;Pan15;Pat6 PubMed: Jamieson 2000, PubMed: Bond 2003, PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 2-generation family, 4 affected sibs (F, 3M) unaffected heterozygous carrier parents M yes Turkey - - - - - 4 Johan den Dunnen
+/. 3 c.1366G>T r.(?) p.(Glu456Ter) Unknown - pathogenic (recessive) g.197112016C>A g.197142886C>A - - ASPM_000412 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - Turkey - - - - - 1 Johan den Dunnen
?/. 3 c.1388G>A r.(?) p.(Ser463Asn) Unknown - VUS g.197111994C>T g.197142864C>T - - ASPM_000411 no variant second chromosome PubMed: Tan 2014 - - Germline - 1/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1406_1413del r.(?) p.(Asn469IlefsTer9) Unknown - pathogenic (recessive) g.197111970_197111977del g.197142840_197142847del 1406_1413delATCCTAAA - ASPM_000410 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
-?/. - c.1429G>T r.(?) p.(Asp477Tyr) Unknown - likely benign g.197111953C>A - ASPM(NM_018136.4):c.1429G>T (p.(Asp477Tyr)) - ASPM_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1451A>G r.(?) p.(Asn484Ser) Unknown - VUS g.197111931T>C g.197142801T>C ASPM(NM_001206846.1):c.1451A>G (p.(Asn484Ser)) - ASPM_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1467A>G r.(?) p.(Arg489=) Unknown - likely benign g.197111915T>C g.197142785T>C ASPM(NM_018136.4):c.1467A>G (p.R489=) - ASPM_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1495A>G r.(?) p.(Lys499Glu) Unknown - VUS g.197111887T>C g.197142757T>C - - ASPM_000409 no variant second chromosome PubMed: Tan 2014 - - Germline - 1/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1590del r.(?) p.(Val531Ter) Unknown - pathogenic (recessive) g.197111796del g.197142666del 1590delA - ASPM_000408 combination of variants not reported, most likely homozygous PubMed: Nicholas 2008 - - Germline - - - - - DNA SEQ - - microcephaly - PubMed: Nicholas 2008 family - - - white - - - - 1 Johan den Dunnen
+/. - c.1631_1635del r.(?) p.(Tyr544SerfsTer9) Both (homozygous) - pathogenic (recessive) g.197111751_197111755del g.197142621_197142625del - - ASPM_000176 - PubMed: Desir 2006, PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly ?;FamB;Pat9 PubMed: Tunca 2006, PubMed: Desir 2006, PubMed: Duerinckx 2021 family, 3 affected, affected uncle, affected and terminated pregnancy M yes Turkey - - - - - 3 Johan den Dunnen
+/. 3 c.1631_1635del r.(?) p.(Tyr544SerfsTer9) Parent #1 - pathogenic (recessive) g.197111751_197111755del g.197142621_197142625del 1630_1634delATCTT - ASPM_000176 - PubMed: Passemard 2009 - - Germline - - - - - DNA SEQ - - microcephaly Fam5 PubMed: Passemard 2009 - F no France - - - - - 1 Johan den Dunnen
-?/. - c.1689A>G r.(?) p.(Thr563=) Unknown - likely benign g.197111693T>C g.197142563T>C ASPM(NM_018136.4):c.1689A>G (p.T563=) - ASPM_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1717C>T r.(?) p.(Arg573Trp) Unknown - VUS g.197111665G>A g.197142535G>A ASPM(NM_018136.4):c.1717C>T (p.R573W) - ASPM_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1717C>T r.(?) p.(Arg573Trp) Unknown - VUS g.197111665G>A g.197142535G>A - - ASPM_000146 no variant second chromosome PubMed: Tan 2014 - rs144049904 Germline - 2/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 2 Johan den Dunnen
+/. 3 c.1726_1729del r.(?) p.(Lys576AlafsTer10) Parent #1 - pathogenic (recessive) g.197111658_197111661del g.197142528_197142531del - - ASPM_000407 - PubMed: Tan 2014 - - Germline - 1/78 chromosomes MCPH - - - DNA SEQ - - microcephaly Fam18 PubMed: Tan 2014 family - no - white - - - - 1 Johan den Dunnen
+/. 3 c.1729_1730del r.(?) p.(Ser577Argfs*33) Both (homozygous) - pathogenic g.197111654_197111655del g.197142524_197142525del NM_018136: c.1729_1730del; p.577_577del - ASPM_000038 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4914 PubMed: Karaca 2015 - - - - - - - family structure in paper - 2 Johan den Dunnen
+/. 3 c.1729_1730del r.(?) p.(Ser577ArgfsTer33) Unknown - pathogenic g.197111654_197111655del g.197142524_197142525del - - ASPM_000038 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1362 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 3 c.1729_1730del r.(?) p.(Ser577ArgfsTer33) Both (homozygous) - pathogenic (recessive) g.197111654_197111655del g.197142524_197142525del 1727delAG - ASPM_000038 - PubMed: Bond 2003 - - Germline - - - - - DNA SEQ - - microcephaly Fam18 PubMed: Bond 2003 - - - - Yemenite - - - - 1 Johan den Dunnen
?/. - c.1732G>A r.(?) p.(Asp578Asn) Unknown - VUS g.197111650C>T g.197142520C>T ASPM(NM_018136.4):c.1732G>A (p.D578N) - ASPM_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1732G>A r.(?) p.(Asp578Asn) Unknown - benign g.197111650C>T g.197142520C>T ASPM(NM_018136.4):c.1732G>A (p.D578N) - ASPM_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1740C>G r.(?) p.(Ser580Arg) Unknown - VUS g.197111642G>C g.197142512G>C - - ASPM_000406 no variant second chromosome PubMed: Tan 2014 - rs147457270 Germline - 1/400 cases MCPH - - - DNA SEQ - - microcephaly - PubMed: Tan 2014 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1789C>T r.(?) p.(Arg597Ter) Parent #1 - pathogenic (recessive) g.197111593G>A g.197142463G>A - - ASPM_000405 - PubMed: Abdel-Hamid 2016 - - Germline - - - - - DNA SEQ - - microcephaly Fam4Pat5 PubMed: Abdel-Hamid 2016 family, 1 affected F no Egypt - - - - - 1 Johan den Dunnen
+?/. 3 c.1850_1853del r.(1850_1853del) p.(Thr617Lysfs*3) Both (homozygous) - likely pathogenic (recessive) g.197111532_197111535del g.197142402_197142405del - - ASPM_000008 - PubMed: Letard 2018 - - Germline ? - - - - DNA SEQ-NG Peripheral blood leucocytes gene panel MCPH5 Pat1 PubMed: Letard 2018 - M yes Macau Morocco - - - - 1 Nathalie Pouvreau
+/. - c.1922-1G>A r.spl? p.? Unknown - pathogenic g.197109002C>T g.197139872C>T ASPM(NM_018136.5):c.1922-1G>A - ASPM_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1931T>A r.(?) p.(Ile644Lys) Unknown - likely benign g.197108992A>T g.197139862A>T ASPM(NM_018136.4):c.1931T>A (p.I644K) - ASPM_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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