Full data view for gene MACF1

Information The variants shown are described using the NM_001394062.1 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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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.172-6400A>T r.(=) p.(=) Unknown - likely benign g.39709286A>T - MACF1(NM_012090.5):c.283-6400A>T - KIAA0754_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467T>G r.(?) p.(Ile156Ser) Unknown - VUS g.39723639T>G - MACF1(NM_012090.5):c.482T>G (p.(Ile161Ser)) - KIAA0754_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.950G>T r.(?) p.(Arg317Leu) Unknown - VUS g.39749772G>T - MACF1(NM_012090.5):c.965G>T (p.R322L) - KIAA0754_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2567G>A r.(?) p.(Arg856His) Unknown - VUS g.39765967G>A - MACF1(NM_012090.5):c.2582G>A (p.(Arg861His)) - KIAA0754_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2594C>T r.(?) p.(Thr865Ile) Unknown - likely benign g.39765994C>T - MACF1(NM_012090.5):c.2609C>T (p.(Thr870Ile)) - KIAA0754_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3032T>C r.(?) p.(Leu1011Ser) Unknown - likely benign g.39776032T>C - MACF1(NM_012090.5):c.3047T>C (p.(Leu1016Ser)) - KIAA0754_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3265dup r.(?) p.(Gln1089Profs*23) Unknown - VUS g.39776667dup - MACF1(NM_012090.5):c.3280dup (p.(Gln1094ProfsTer23)) - KIAA0754_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3422A>G r.(?) p.(Tyr1141Cys) Unknown - VUS g.39781336A>G - MACF1(NM_012090.5):c.3437A>G (p.(Tyr1146Cys)) - KIAA0754_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3471A>G r.(?) p.(Ile1157Met) Unknown - VUS g.39782084A>G - MACF1(NM_012090.5):c.3486A>G (p.(Ile1162Met)) - KIAA0754_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3782G>A r.(?) p.(Arg1261His) Unknown - likely benign g.39783079G>A - MACF1(NM_012090.5):c.3797G>A (p.(Arg1266His)) - KIAA0754_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3821A>G r.(?) p.(Asp1274Gly) Unknown - VUS g.39784163A>G - MACF1(NM_012090.5):c.3836A>G (p.(Asp1279Gly)) - KIAA0754_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4229A>T r.(?) p.(Glu1410Val) Unknown - VUS g.39788673A>T - MACF1(NM_012090.5):c.4244A>T (p.(Glu1415Val)) - KIAA0754_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4389+3G>C r.spl? p.? Unknown - VUS g.39790020G>C - MACF1(NM_012090.5):c.4404+3G>C - KIAA0754_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4394T>G r.(?) p.(Leu1465Arg) Unknown - VUS g.39790322T>G - MACF1(NM_012090.5):c.4409T>G (p.(Leu1470Arg)) - KIAA0754_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4615-12_4615-2del r.spl? p.? Unknown - likely benign g.39796863_39796873del - MACF1(NM_012090.5):c.4629+3838_4629+3848delTTTTTTTTTTA - KIAA0754_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10874T>C r.(?) p.(Val3625Ala) Unknown - likely benign g.39815208T>C - MACF1(NM_012090.5):c.4688T>C (p.(Val1563Ala)) - KIAA0754_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10966-6G>A r.(=) p.(=) Unknown - likely benign g.39816451G>A - MACF1(NM_012090.5):c.4780-6G>A - KIAA0754_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10991G>A r.(?) p.(Arg3664His) Unknown - likely benign g.39816482G>A - MACF1(NM_012090.5):c.4805G>A (p.(Arg1602His)) - KIAA0754_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11027A>C r.(?) p.(Glu3676Ala) Unknown - VUS g.39816518A>C - MACF1(NM_012090.5):c.4841A>C (p.(Glu1614Ala)) - KIAA0754_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.11080C>T r.(?) p.(Leu3694Phe) Unknown - likely benign g.39816571C>T - MACF1(NM_012090.5):c.4894C>T (p.L1632F) - KIAA0754_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11080C>T r.(?) p.(Leu3694Phe) Both (homozygous) - VUS g.39816571C>T g.39350899C>T NM_012090.5:c.4894C>T - MACF1_000006 - PubMed: Chatron 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DEE FamAPatIII1 PubMed: Chatron 2020 3-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Algeria - - - - - 2 Johan den Dunnen
?/. - c.11080C>T r.(?) p.(Leu3694Phe) Both (homozygous) - VUS g.39816571C>T g.39350899C>T NM_012090.5:c.4894C>T - MACF1_000006 - PubMed: Chatron 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DEE FamAPatIII2 PubMed: Chatron 2020 sister F yes Algeria - - - - - 1 Johan den Dunnen
-?/. - c.11135C>T r.(?) p.(Thr3712Ile) Unknown - likely benign g.39816626C>T - MACF1(NM_012090.5):c.4949C>T (p.T1650I) - KIAA0754_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11135C>T r.(?) p.(Thr3712Ile) Both (homozygous) - VUS g.39816626C>T g.39350954C>T NM_012090.5:c.4949C>T - MACF1_000007 - PubMed: Chatron 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DEE FamAPatIII1 PubMed: Chatron 2020 3-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Algeria - - - - - 2 Johan den Dunnen
?/. - c.11135C>T r.(?) p.(Thr3712Ile) Both (homozygous) - VUS g.39816626C>T g.39350954C>T NM_012090.5:c.4949C>T - MACF1_000007 - PubMed: Chatron 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES DEE FamAPatIII2 PubMed: Chatron 2020 sister F yes Algeria - - - - - 1 Johan den Dunnen
?/. - c.11372T>G r.(?) p.(Met3791Arg) Unknown - VUS g.39818851T>G - MACF1(NM_012090.5):c.5186T>G (p.(Met1729Arg)) - KIAA0754_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.12025T>C r.(?) p.(Trp4009Arg) Unknown - VUS g.39824450T>C - MACF1(NM_012090.5):c.5839T>C (p.W1947R) - KIAA0754_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12057G>C r.(?) p.(Lys4019Asn) Unknown - likely benign g.39824482G>C - MACF1(NM_012090.5):c.5871G>C (p.(Lys1957Asn)) - KIAA0754_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12454-7A>C r.(=) p.(=) Unknown - likely benign g.39827025A>C - MACF1(NM_012090.5):c.6268-7A>C - KIAA0754_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.12851G>A r.(?) p.(Gly4284Asp) Unknown - VUS g.39833899G>A - MACF1(NM_012090.5):c.6665G>A (p.(Gly2222Asp)) - KIAA0754_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13421A>G r.(?) p.(Gln4474Arg) Unknown - VUS g.39845019A>G - MACF1(NM_012090.5):c.7235A>G (p.(Gln2412Arg)) - KIAA0754_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13484C>T r.(?) p.(Thr4495Ile) Unknown - VUS g.39845082C>T - MACF1(NM_012090.5):c.7298C>T (p.(Thr2433Ile)) - KIAA0754_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13549C>T r.(?) p.(Pro4517Ser) Unknown - VUS g.39845946C>T - MACF1(NM_012090.5):c.7363C>T (p.(Pro2455Ser)) - KIAA0754_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.13807A>G r.(?) p.(Ile4603Val) Unknown - likely benign g.39847783A>G - MACF1(NM_012090.5):c.7621A>G (p.(Ile2541Val)) - KIAA0754_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13887T>A r.(?) p.(His4629Gln) Unknown - VUS g.39851144T>A - MACF1(NM_012090.5):c.7701T>A (p.(His2567Gln)) - KIAA0754_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13997A>G r.(?) p.(Glu4666Gly) Unknown - VUS g.39851254A>G - MACF1(NM_012090.5):c.7811A>G (p.(Glu2604Gly)) - KIAA0754_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14214C>G r.(?) p.(His4738Gln) Unknown - VUS g.39851471C>G - MACF1(NM_012090.5):c.8028C>G (p.(His2676Gln)) - KIAA0754_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14350C>T r.(?) p.(Arg4784Cys) Unknown - VUS g.39852864C>T - MACF1(NM_012090.5):c.8164C>T (p.(Arg2722Cys)) - KIAA0754_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14696A>G r.(?) p.(Lys4899Arg) Unknown - likely benign g.39853210A>G - MACF1(NM_012090.5):c.8510A>G (p.(Lys2837Arg)) - KIAA0754_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14842A>G r.(?) p.(Met4948Val) Unknown - likely benign g.39853356A>G - MACF1(NM_012090.5):c.8656A>G (p.(Met2886Val)) - KIAA0754_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.15005C>G r.(?) p.(Thr5002Arg) Unknown - benign g.39853519C>G g.39387847C>G - - MACF1_000009 - PubMed: Bayam 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5PatII1 PubMed: Bayam 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Brazil Minas Gerais - - - - 1 Johan den Dunnen
?/. - c.15196G>A r.(?) p.(Val5066Ile) Unknown - VUS g.39853710G>A - MACF1(NM_012090.5):c.9010G>A (p.(Val3004Ile)) - KIAA0754_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15398C>T r.(?) p.(Ser5133Phe) Unknown - likely benign g.39853912C>T - MACF1(NM_012090.5):c.9212C>T (p.(Ser3071Phe)) - KIAA0754_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15478G>A r.(?) p.(Glu5160Lys) Unknown - likely benign g.39853992G>A - MACF1(NM_012090.5):c.9292G>A (p.(Glu3098Lys)) - KIAA0754_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15548G>A r.(?) p.(Cys5183Tyr) Unknown - likely benign g.39854062G>A - MACF1(NM_012090.5):c.9362G>A (p.(Cys3121Tyr)) - KIAA0754_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15650A>C r.(?) p.(Lys5217Thr) Unknown - likely benign g.39854164A>C - MACF1(NM_012090.5):c.9464A>C (p.(Lys3155Thr)) - KIAA0754_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15728C>T r.(?) p.(Ala5243Val) Unknown - likely benign g.39854242C>T - MACF1(NM_012090.5):c.9542C>T (p.(Ala3181Val)) - KIAA0754_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15769G>C r.(?) p.(Val5257Leu) Unknown - likely benign g.39854283G>C - MACF1(NM_012090.5):c.9583G>C (p.(Val3195Leu)) - KIAA0754_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15776C>A r.(?) p.(Thr5259Asn) Unknown - VUS g.39854290C>A - MACF1(NM_012090.5):c.9590C>A (p.(Thr3197Asn)) - KIAA0754_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15787A>G r.(?) p.(Ile5263Val) Unknown - likely benign g.39854301A>G - MACF1(NM_012090.5):c.9601A>G (p.(Ile3201Val)) - KIAA0754_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15817-10995G>C r.(=) p.(=) Unknown - VUS g.39877051G>C - MACF1(NM_012090.5):c.9631-10995G>C - KIAA0754_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15817-10745C>G r.(=) p.(=) Unknown - VUS g.39877301C>G - MACF1(NM_012090.5):c.9631-10745C>G - KIAA0754_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15817-10719G>T r.(=) p.(=) Unknown - VUS g.39877327G>T - MACF1(NM_012090.5):c.9631-10719G>T - KIAA0754_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15817-10551C>T r.(=) p.(=) Unknown - likely benign g.39877495C>T - MACF1(NM_012090.5):c.9631-10551C>T - KIAA0754_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15817-9572C>T r.(=) p.(=) Unknown - VUS g.39878474C>T - MACF1(NM_012090.5):c.9631-9572C>T - KIAA0754_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15920A>G r.(?) p.(Gln5307Arg) Unknown - likely benign g.39888149A>G - MACF1(NM_012090.5):c.9734A>G (p.(Gln3245Arg)) - KIAA0754_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.16175G>A r.(?) p.(Arg5392Gln) Unknown - likely benign g.39889725G>A - MACF1(NM_012090.5):c.9989G>A (p.(Arg3330Gln)) - KIAA0754_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.16242T>G r.(?) p.(Asp5414Glu) Unknown - likely benign g.39889792T>G - MACF1(NM_012090.5):c.10056T>G (p.D3352E) - KIAA0754_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16468C>T r.(?) p.(Arg5490Trp) Unknown - VUS g.39893278C>T - MACF1(NM_012090.5):c.10282C>T (p.(Arg3428Trp)) - KIAA0754_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16927A>G r.(?) p.(Ile5643Val) Unknown - VUS g.39895537A>G - MACF1(NM_012090.5):c.10741A>G (p.(Ile3581Val)) - KIAA0754_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.17014C>T r.(?) p.(Gln5672*) Unknown - likely pathogenic g.39895624C>T - - - KIAA0754_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17131-9C>G r.(=) p.(=) Unknown - likely benign g.39896365C>G - MACF1(NM_012090.5):c.10945-9C>G - KIAA0754_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17144A>C r.(?) p.(Glu5715Ala) Unknown - likely benign g.39896387A>C - MACF1(NM_012090.5):c.10958A>C (p.(Glu3653Ala)) - KIAA0754_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17287A>G r.(?) p.(Ile5763Val) Unknown - likely benign g.39896530A>G - MACF1(NM_012090.5):c.11101A>G (p.(Ile3701Val)) - KIAA0754_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.17515C>T r.(?) p.(Arg5839Cys) Unknown - likely benign g.39898777C>T - MACF1(NM_012090.5):c.11329C>T (p.(Arg3777Cys)) - KIAA0754_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18073G>C r.(?) p.(Val6025Leu) Unknown - VUS g.39903533G>C - MACF1(NM_012090.5):c.11896G>C (p.V3966L) - KIAA0754_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18104A>G r.(?) p.(Asn6035Ser) Unknown - likely benign g.39903564A>G - MACF1(NM_012090.5):c.11927A>G (p.(Asn3976Ser)) - KIAA0754_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18274C>T r.(?) p.(Arg6092Trp) Unknown - likely benign g.39904999C>T - MACF1(NM_012090.5):c.12097C>T (p.(Arg4033Trp)) - KIAA0754_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18634G>T r.(?) p.(Ala6212Ser) Unknown - VUS g.39906959G>T - MACF1(NM_012090.5):c.12457G>T (p.(Ala4153Ser)) - KIAA0754_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19030G>A r.(?) p.(Glu6344Lys) Unknown - likely benign g.39908165G>A - MACF1(NM_012090.5):c.12853G>A (p.(Glu4285Lys)) - KIAA0754_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19070C>T r.(?) p.(Pro6357Leu) Unknown - VUS g.39908205C>T - MACF1(NM_012090.5):c.12893C>T (p.(Pro4298Leu)) - KIAA0754_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19230G>T r.(?) p.(Met6410Ile) Unknown - likely benign g.39908511G>T - MACF1(NM_012090.5):c.13053G>T (p.M4351I) - KIAA0754_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19303-9dup r.(=) p.(=) Unknown - likely benign g.39909109dup - MACF1(NM_012090.5):c.13126-9dupT - KIAA0754_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19670A>G r.(?) p.(Asn6557Ser) Unknown - VUS g.39913168A>G - MACF1(NM_012090.5):c.13493A>G (p.(Asn4498Ser)) - KIAA0754_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19823A>G r.(?) p.(Asn6608Ser) Unknown - likely benign g.39913425A>G - MACF1(NM_012090.5):c.13646A>G (p.(Asn4549Ser)) - KIAA0754_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20001G>T r.(?) p.(Trp6667Cys) Unknown - VUS g.39913737G>T - MACF1(NM_012090.5):c.13824G>T (p.(Trp4608Cys)) - KIAA0754_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20007A>C r.(?) p.(Glu6669Asp) Unknown - VUS g.39913743A>C - MACF1(NM_012090.5):c.13830A>C (p.(Glu4610Asp)) - KIAA0754_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.20179G>A r.(?) p.(Glu6727Lys) Unknown - likely benign g.39914356G>A - MACF1(NM_012090.5):c.14002G>A (p.E4668K) - KIAA0754_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.20616G>A r.(?) p.(Ala6872=) Unknown - likely benign g.39918358G>A - MACF1(NM_012090.5):c.14439G>A (p.(Ala4813Ala)) - KIAA0754_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.20719C>T r.(?) p.(Gln6907Ter) Unknown ACMG likely pathogenic (dominant) g.39918461C>T g.39452789C>T - - MACF1_000008 - - - - De novo - - - - - DNA SEQ-NG-I - WGS SCZD - - - M - - - - - - - 1 Camille Verebi
-?/. - c.21032C>T r.(?) p.(Pro7011Leu) Unknown - likely benign g.39920726C>T - MACF1(NM_012090.5):c.14855C>T (p.P4952L) - KIAA0754_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21075+3A>G r.spl? p.? Unknown - likely benign g.39920772A>G - MACF1(NM_012090.5):c.14898+3A>G - KIAA0754_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.21580G>A r.(?) p.(Gly7194Arg) Unknown - VUS g.39927611G>A - MACF1(NM_012090.5):c.15403G>A (p.(Gly5135Arg)) - KIAA0754_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.21802C>T r.(?) p.(Arg7268Cys) Unknown - VUS g.39934317C>T - MACF1(NM_012090.5):c.15607C>T (p.R5203C) - KIAA0754_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22022G>A r.(?) p.(Gly7341Glu) Unknown - VUS g.39945533G>A - MACF1(NM_012090.5):c.15758G>A (p.G5253E) - KIAA0754_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22036C>T r.(?) p.(Arg7346Cys) Unknown - VUS g.39945547C>T - MACF1(NM_012090.5):c.15772C>T (p.(Arg5258Cys)) - KIAA0754_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22282-6T>G r.(=) p.(=) Unknown - likely benign g.39950267T>G - MACF1(NM_012090.5):c.15907-6T>G - KIAA0754_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.22340G>A r.(?) p.(Arg7447Gln) Unknown - likely benign g.39950331G>A - MACF1(NM_012090.5):c.15965G>A (p.(Arg5322Gln)) - KIAA0754_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22446_22457del r.(?) p.(Gly7488_Ala7491del) Unknown - VUS g.39951244_39951255del - MACF1(NM_012090.5):c.16071_16082del (p.(Gly5363_Ala5366del)), MACF1(NM_012090.5):c.16071_16082delGGCTGGGAGTCG (p.G5363_A5366del) - KIAA0754_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.22446_22457del r.(?) p.(Gly7488_Ala7491del) Unknown - VUS g.39951244_39951255del - MACF1(NM_012090.5):c.16071_16082del (p.(Gly5363_Ala5366del)), MACF1(NM_012090.5):c.16071_16082delGGCTGGGAGTCG (p.G5363_A5366del) - KIAA0754_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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