| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Missense | ASPM | 1258delTCTCAAG | Frame shift mutation & PTC | 2002/Bond et al., 2002 | |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 9159delA | Lys3053Asnfs*5 | Frame shift mutation & PTC | 2002/Bond et al., 2002 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 349C>T | Arg117* | Premature Termination | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 1990C>T | Glu664* | Premature Termination | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 4795C>T | Arg1599* | Premature Termination | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 2939C>T | Arg980* | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 3055C>T | Arg1019* | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 3978G>A | Trp1326 | Premature Termination | 2006/Gul et al., 2006 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 5136C>A | Tyr1712* | Premature Termination | 2007/Gul et al., 2007 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 7761T>G | Tyr2587* | Premature Termination | 2002/Bond et al., 2002 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 7894C>T | Glu2632* | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 8668C>T | Gln2890* | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9190C>T | Arg3064* | Premature Termination | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9238A>T | Leu3080* | Premature Termination | 2006/Gul et al., 2006 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9319C>T | Arg3107* | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9492T>G | Tyr3164* | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9557C>G | Ser3186* | Premature Termination | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9595A>T | Lys3199* | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9697C>T | Arg3233 | Premature Termination | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 9730C>T | Arg3244* | Premature Termination | 2007/Gul et al., 2007 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 10059C>A | Tye3353* | Premature Termination | 2007/Gul et al., 2007 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 719_720delCT | Ser240fs | Frame shift mutation | 2002/Bond et al., 2002 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 1002delA | Val335fs | Frame shift mutation | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 1258_1264del | Gln461fs | Frame shift mutation | 2002/Bond et al., 2002 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 1260delTCAAGTC | Frame shift mutation | 2006/Gul et al., 2006 | |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 3477_3481del | Ala1160fs | Frame shift mutation | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 3663delG | Arg1221fs | Frame shift mutation | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 4581delA | Lys1528fs | Frame shift mutation | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 5149delA | Ile1717* | Premature Termination | 2007/Gul et al., 2007 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 6732delA | Tyr2245fs | Frame shift mutation | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 7895_7896delAG | Lys2633fs | Frame shift mutation | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 8508delGA | Lys2837fs | Frame shift mutation | 2003/Bond et al., 2003 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Insertion | ASPM | 9118_9119insCATT | Tyr3040fs | Frame shift mutation | 2006/Gul et al., 2006 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Insertion | ASPM | 9677insG | Cys3226fs | Frame shift mutation | 2009/Muhammad et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Missense | ASPM | 9539A>C | Gln3180Pro | Amino Acid Substitution | 2006/Gul et al., 2006 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Splice site | ASPM | IVS9+5G>T | SDS Removal | 2003/Bond et al., 2003 | |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Splice site | ASPM | IVS95GrT (29365GrT) | 2003/Bond et al., 2003 | ||
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | ASPM | 3082G>A | Removes SDS, additional 3 aa then stop | 2003/Bond et al., 2003 | ||
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Splice site | ASPM | IVS251GrT (99841G>T) | Removes SDS, additional 29 aa then stop | 2003/Bond et al., 2003 | |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 2101C>T | Gln701* | Premature Termination | 2010/Kousar et al., 2010 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 6686delGAAA | Arg2229Tfs*9 | Frame shift mutation & PTC | 2010/Kousar et al., 2010 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 77delG | Gly26Alafs*41 | Frame shift mutation & PTC | 2010/Kousar et al., 2010 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 2967G>A | Trp989* | Premature Termination | 0/Nicholas et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 8200_8201delAA | Asn2734Leufs*16 | Frame shift mutation & PTC | 0/Sajid et al., 2013 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Missense | ASPM | 4784A>C | Gln1595Pro | Amino Acid Substitution | 0/Gul et al., 2006 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 4435C>T | Arg1479* | Premature Termination | 0/Nicholas et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 7782_7783delGA | Lys2595Serfs*6 | Frame shift mutation & PTC | 0/Nicholas et al., 2009 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Insertion | ASPM | 5606_5607insC | His1870Thrfs*26 | Frame shift mutation & PTC | 0/Kraemer et al., 2016 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Splice site | ASPM | g.197125193 T>C | 0/Kraemer et al., 2016 | ||
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 2420delG | Gly807Glufs*7 | FS & PTC | 0/Ahmad et al., 2017 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 8098C>T | Arg2700* | 0/Ahmad et al., 2017 | |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 6851_6854delTCTC | Leu2285Argfs*6 | FS & PTC | 0/Ahmad et al., 2017 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 4212G>A | Trp1404* | 0/Ahmad et al., 2017 | |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 1235_1239delAAGTA | Lys412Thrfs*5 | FS & PTC | 0/Ahmad et al., 2017 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 3491_3494delGTAC | Arg3491Leufs*15 | FS & PTC | 0/Ahmad et al., 2017 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | 8508_8509delGA | Lys2837Metfs*34 | FS & PTC | 0/Ahmad et al., 2017 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 5959C>T | Gln1987* | PTC | 0/Ahmad et al., 2017 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | 7543C>T | Arg2515* | PTC | 0/Khan et al., 2018 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Duplication | ASPM | c.3871dupGA | Lys1291Glyfs*14 | Frame shift and PTC | Hussain et al., 2021/2021 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | c.6854_6855del | Leu2285GlnfsTer32 | Frameshift and PTC | 0/Naqvi et al. 2022 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.727C>T | Arg243* | PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | c.1602_1605delTCAA | Asn534Lysfs*14 | Frameshift and PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | c.1615_1616delGA | Glu539Argfs*15 | Frameshift and PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.3193C>T | Gln1065* | PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | c.8718_8721delTTTA | Leu2907Argfs*30 | Frameshift and PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.9601C>T | Gln3201* | PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.9961C>T | Gln3321* | PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | c.6854_6855delTC | Leu2285Glnfs*32 | Frameshift and PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Duplication | ASPM | c.9976_9977dupGT | Ser3327 Tyrfs*14 | Frameshift and PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | ?? | ASPM | c.3741G>A | Lys1247= | ?? | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | c.1260_1266delTCAAGTC | Gln421Hisfs*32 | Frameshift and PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Insertion | ASPM | c.9118insCATT | ?? | Frameshift and PTC | /Gul et al. 2006 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Deletion | ASPM | c.8190_8193delAGAA | Arg2732Lysfs*4 | Frameshift and PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.9286C>T | Arg3096* | PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.9789T>A | Tyr3263* | PTC | /Rasool et al. 2020 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.6131C>T | Gln2051* | PTC | /Hussain et al. 2013 |
| MCPH5 (ASPM) | Microcephaly | Autosomal Recessive | 1q31.3 | Missense | ASPM | c.5584A>G | Lys1862Glu | Amino acid substitution | /Hussain et al. 2013 |
| MCPH5 (ASPM) | Microcephaly primary | Autosomal Recessive | 1q31.3 | Delation | ASPM | c.10097_10098delGA | p. Gly3366Glufs*19 | Frameshift | Makhdoom et al., 2022/2022 |
| MCPH5 (ASPM) | variable head circumference, cognitive impairment, aggressive behaviors, and other related behavioral problems. Delayed language development; HC revealed a microcephalic diagnosis | Autosomal Recessive | 1q31.3 | Nonsense | ASPM | c.6994C>T | p. R2332* | Premature Termination | Paracha et al. 2024/2024 |
| MCPH5 (ASPM) | Microcephaly 5, primary, autosomal recessive | Autosomal Recessive | 1q31.3 | Substitution | ASPM | c.6994C?>?T | p. ARG2332* | Premature Termination | Paracha/2024 |
