Full data view for gene CENPF

Information The variants shown are described using the NM_016343.3 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Methylation     

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+?/. 3 c.171_199del r.(?) p.(Asn57Lysfs*11) Paternal (confirmed) - likely pathogenic g.214788183_214788211del g.214614840_214614868del 165_193del - CENPF_000009 - PubMed: Filges 2016 - - Germline yes - - - - DNA SEQ-NG-I Blood - STROMS 26820108-FamA PubMed: Filges 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Norway Caucasion - - - - 2 Kaja Selmer
-?/. - c.330A>G r.(?) p.(Gln110=) Unknown - likely benign g.214788342A>G - CENPF(NM_016343.3):c.330A>G (p.Q110=) - CENPF_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(=) Unknown - likely benign g.214791982C>T - CENPF(NM_016343.4):c.426C>T (p.C142=) - CENPF_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.574-2A>C r.spl? p.? Paternal (confirmed) - pathogenic g.214793996A>C g.214620653A>C IVS5-2A>C - CENPF_000002 not in 400 control chromosomes; exome sequencing {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Waters 2015, Journal: Waters 2015 2-generation family, 4 fetuses (mid-gestation lethality), unaffected heterozygous carrier parents - no United Kingdom (Great Britain) European, white <00y00m00d - - - 4 Johan den Dunnen
?/. - c.635C>A r.(?) p.(Ala212Asp) Unknown - VUS g.214794059C>A - CENPF(NM_016343.4):c.635C>A (p.(Ala212Asp)) - CENPF_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.767G>A r.(?) p.(Arg256Gln) Unknown - VUS g.214794191G>A - CENPF(NM_016343.3):c.767G>A (p.(Arg256Gln)) - CENPF_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.866-4C>T r.spl? p.? Unknown - likely benign g.214795418C>T - CENPF(NM_016343.4):c.866-4C>T - CENPF_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.965T>C r.(?) p.(Leu322Pro) Unknown - VUS g.214795521T>C - CENPF(NM_016343.3):c.965T>C (p.L322P), CENPF(NM_016343.4):c.965T>C (p.L322P) - CENPF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.965T>C r.(?) p.(Leu322Pro) Unknown - VUS g.214795521T>C - CENPF(NM_016343.3):c.965T>C (p.L322P), CENPF(NM_016343.4):c.965T>C (p.L322P) - CENPF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070A>G r.(?) p.(Tyr357Cys) Unknown - VUS g.214802390A>G - CENPF(NM_016343.4):c.1070A>G (p.Y357C) - CENPF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259G>T r.(?) p.(Arg420Ile) Unknown - VUS g.214803941G>T - CENPF(NM_016343.3):c.1259G>T (p.R420I) - CENPF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1451T>C r.(?) p.(Met484Thr) Unknown - likely benign g.214811213T>C - CENPF(NM_016343.3):c.1451T>C (p.M484T) - CENPF_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1457A>G r.(?) p.(Lys486Arg) Unknown - VUS g.214811219A>G - CENPF(NM_016343.3):c.1457A>G (p.K486R) - CENPF_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1744G>T r.(?) p.(Glu582*) Maternal (confirmed) - pathogenic g.214813425G>T g.214640082G>T - - CENPF_000001 not in 400 control chromosomes; exome sequencing {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Waters 2015, Journal: Waters 2015 2-generation family, 4 fetuses (mid-gestation lethality), unaffected heterozygous carrier parents - no United Kingdom (Great Britain) European, white <00y00m00d - - - 4 Johan den Dunnen
+/. 12 c.1744G>T r.(?) p.(Glu582*) Paternal (confirmed) - pathogenic g.214813425G>T g.214640082G>T - - CENPF_000001 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MCPH1 - PubMed: Waters 2015, Journal: Waters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 12 c.1744G>T r.(?) p.(Glu582*) Paternal (confirmed) - pathogenic (dominant) g.214813425G>T g.214640082G>T - - CENPF_000001 - PubMed: Filges 2016 - rs367624766 Germline yes - - - - DNA SEQ-NG - - STROMS 26820108-FamB PubMed: Filges 2016 2-generation family, 2 affected (F, fetus), unaffected heterozygous carrier parents F ? - - - - - - 2 Isabel Filges
+/. - c.1744G>T r.(?) p.(Glu582*) Paternal (confirmed) - pathogenic (dominant) g.214813425G>T g.214640082G>T - - CENPF_000001 - PubMed: Filges 2016 - - Germline yes - - - - DNA SEQ-NG - - STROMS 26820108-FamB PubMed: Filges 2016 - M ? - - - - - - 1 Isabel Filges
+/. - c.1774_1777del r.(?) p.(Glu592Lysfs*7) Unknown - pathogenic g.214813455_214813458del - CENPF(NM_016343.4):c.1774_1777delGAGA (p.E592Kfs*7) - CENPF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2053G>A r.(?) p.(Val685Met) Unknown - likely benign g.214813734G>A - CENPF(NM_016343.3):c.2053G>A (p.(Val685Met)) - CENPF_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2111A>G r.(?) p.(Gln704Arg) Unknown - likely benign g.214813792A>G - CENPF(NM_016343.4):c.2111A>G (p.Q704R) - CENPF_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2251C>T r.(?) p.(Arg751Trp) Unknown - VUS g.214813932C>T - CENPF(NM_016343.4):c.2251C>T (p.R751W) - CENPF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.2734G>T r.(?) p.(Glu912*) Maternal (confirmed) - pathogenic (recessive) g.214814415G>T g.214641072G>T 2734C>T - CENPF_000008 - PubMed: Filges 2016, correction in PubMed: Filges 2016 - - Germline yes - - - - DNA SEQ-NG-I Blood - STROMS 26820108-FamA PubMed: Filges 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Norway Caucasion - - - - 2 Kaja Selmer
-?/. - c.2951C>T r.(?) p.(Ala984Val) Unknown - likely benign g.214814632C>T - CENPF(NM_016343.3):c.2951C>T (p.A984V) - CENPF_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3013G>C r.(?) p.(Asp1005His) Unknown - likely benign g.214814694G>C - CENPF(NM_016343.3):c.3013G>C (p.D1005H) - CENPF_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3143A>G r.(?) p.(Glu1048Gly) Unknown - VUS g.214814824A>G g.214641481A>G CENPF(NM_016343.4):c.3143A>G (p.E1048G) - CENPF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3296del r.(?) p.(Leu1099Argfs*3) Both (homozygous) ACMG likely pathogenic (recessive) g.214814977del g.214641634del c.3296delT - CENPF_000035 ACMG PVS1, PM2 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 17-1561 PubMed: Maddirevula 2019 - M - - - - - - - 1 Johan den Dunnen
-/. - c.3307T>C r.(?) p.(Leu1103=) Unknown - benign g.214814988T>C - CENPF(NM_016343.4):c.3307T>C (p.L1103=) - CENPF_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3369C>T r.(?) p.(Ser1123=) Unknown - likely benign g.214815050C>T - CENPF(NM_016343.4):c.3369C>T (p.S1123=) - CENPF_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3577C>T r.(?) p.(Gln1193Ter) Unknown - pathogenic g.214815258C>T g.214641915C>T CENPF(NM_016343.3):c.3577C>T (p.Q1193*) - CENPF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3617A>G r.(?) p.(Tyr1206Cys) Unknown - likely benign g.214815298A>G - CENPF(NM_016343.4):c.3617A>G (p.Y1206C) - CENPF_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3623C>T r.(?) p.(Ala1208Val) Parent #1 - benign g.214815304C>T g.214641961C>T - - CENPF_000032 34 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114717799 Germline - 34/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 34 Mohammed Faruq
-/. - c.3623C>T r.(?) p.(Ala1208Val) Unknown - benign g.214815304C>T - CENPF(NM_016343.3):c.3623C>T (p.(Ala1208Val)) - CENPF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3774del r.(?) p.(Ser1259Valfs*8) Unknown - pathogenic g.214815455del - CENPF(NM_016343.4):c.3774delT (p.S1259Vfs*8) - CENPF_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3811A>G r.(?) p.(Lys1271Glu) Unknown - VUS g.214815492A>G g.214642149A>G CENPF(NM_016343.3):c.3811A>G (p.K1271E), CENPF(NM_016343.4):c.3811A>G (p.K1271E) - CENPF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3811A>G r.(?) p.(Lys1271Glu) Unknown - likely benign g.214815492A>G - CENPF(NM_016343.3):c.3811A>G (p.K1271E), CENPF(NM_016343.4):c.3811A>G (p.K1271E) - CENPF_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3928C>G r.(?) p.(Leu1310Val) Unknown - VUS g.214815609C>G - CENPF(NM_016343.4):c.3928C>G (p.L1310V) - CENPF_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3974G>A r.(?) p.(Arg1325Lys) Unknown - likely benign g.214815655G>A - CENPF(NM_016343.4):c.3974G>A (p.R1325K) - CENPF_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4182A>G r.(?) p.(Thr1394=) Unknown - likely benign g.214815863A>G g.214642520A>G CENPF(NM_016343.3):c.4182A>G (p.T1394=), CENPF(NM_016343.4):c.4182A>G (p.T1394=) - CENPF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4182A>G r.(?) p.(Thr1394=) Unknown - likely benign g.214815863A>G - CENPF(NM_016343.3):c.4182A>G (p.T1394=), CENPF(NM_016343.4):c.4182A>G (p.T1394=) - CENPF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4348T>A r.(?) p.(Ser1450Thr) Unknown - VUS g.214816029T>A - CENPF(NM_016343.3):c.4348T>A (p.S1450T) - CENPF_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.4582T>C r.(?) p.(Cys1528Arg) Unknown - likely pathogenic g.214816263T>C g.214642920T>C - - CENPF_000004 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Unknown - - - - - DNA SEQ - - BBS - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.4582T>C r.(?) p.(Cys1528Arg) Unknown - likely benign g.214816263T>C g.214642920T>C CENPF(NM_016343.3):c.4582T>C (p.C1528R) - CENPF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4690G>A r.(?) p.(Glu1564Lys) Unknown - likely benign g.214816371G>A - CENPF(NM_016343.3):c.4690G>A (p.(Glu1564Lys)) - CENPF_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4719A>C r.(?) p.(Gln1573His) Unknown - VUS g.214816400A>C - CENPF(NM_016343.3):c.4719A>C (p.Q1573H) - CENPF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4999C>T r.(?) p.(Arg1667Ter) Unknown - pathogenic g.214817912C>T g.214644569C>T CENPF(NM_016343.4):c.4999C>T (p.R1667*) - CENPF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.5378G>A r.(?) p.(Arg1793His) Unknown - likely pathogenic g.214818291G>A g.214644948G>A - - CENPF_000005 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Unknown - - - - - DNA SEQ - - BBS - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.5378G>A r.(?) p.(Arg1793His) Unknown - likely benign g.214818291G>A g.214644948G>A CENPF(NM_016343.3):c.5378G>A (p.R1793H) - CENPF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5520dup r.(?) p.(Asp1841Argfs*4) Unknown - VUS g.214818433dup - CENPF(NM_016343.4):c.5520dup (p.(Asp1841ArgfsTer4)) - CENPF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5704A>C r.(?) p.(Asn1902His) Unknown - VUS g.214818617A>C g.214645274A>C CENPF(NM_016343.3):c.5704A>C (p.N1902H) - CENPF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5814C>A r.(?) p.(Asp1938Glu) Both (homozygous) - VUS g.214818727C>A - - - CENPF_000052 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline no - - - - DNA SEQ, SEQ-NG - WES NDD Pat3-1 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents M yes - - - - - - 3 Johan den Dunnen
?/. - c.5814C>A r.(?) p.(Asp1938Glu) Parent #1 - VUS g.214818727C>A - - - CENPF_000052 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline no - - - - DNA SEQ, SEQ-NG - WES NDD Pat3-2 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - 1 Johan den Dunnen
?/. - c.5814C>A r.(?) p.(Asp1938Glu) Both (homozygous) - VUS g.214818727C>A - - - CENPF_000052 - PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3-3 PubMed: Rosenhahn 2022, Journal: Rosenhahn 2022 brother M yes - - - - - - 1 Johan den Dunnen
?/. - c.5999A>G r.(?) p.(His2000Arg) Unknown - VUS g.214818912A>G - CENPF(NM_016343.3):c.5999A>G (p.H2000R) - CENPF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6391G>A r.(?) p.(Asp2131Asn) Unknown - VUS g.214819304G>A - CENPF(NM_016343.4):c.6391G>A (p.(Asp2131Asn)) - CENPF_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6440G>A r.(?) p.(Arg2147Gln) Unknown - VUS g.214819353G>A g.214646010G>A CENPF(NM_016343.4):c.6440G>A (p.R2147Q) - CENPF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6532G>A r.(?) p.(Glu2178Lys) Unknown - VUS g.214819445G>A - CENPF(NM_016343.4):c.6532G>A (p.(Glu2178Lys)) - CENPF_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.6926G>A r.(?) p.(Arg2309His) Unknown - likely benign g.214819839G>A g.214646496G>A - - CENPF_000006 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Unknown - - - - - DNA SEQ - - BBS - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - 1 Johan den Dunnen
?/. - c.6926G>A r.(?) p.(Arg2309His) Unknown - VUS g.214819839G>A - CENPF(NM_016343.3):c.6926G>A (p.R2309H), CENPF(NM_016343.4):c.6926G>A (p.R2309H) - CENPF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6926G>A r.(?) p.(Arg2309His) Unknown - likely benign g.214819839G>A - CENPF(NM_016343.3):c.6926G>A (p.R2309H), CENPF(NM_016343.4):c.6926G>A (p.R2309H) - CENPF_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6969A>G r.(?) p.(Gln2323=) Unknown - likely benign g.214819882A>G - CENPF(NM_016343.4):c.6969A>G (p.Q2323=) - CENPF_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7217A>G r.(?) p.(Glu2406Gly) Unknown - likely benign g.214820130A>G g.214646787A>G CENPF(NM_016343.3):c.7217A>G (p.(Glu2406Gly)) - CENPF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7314_7316dup r.(?) p.(Ala2439dup) Unknown - VUS g.214820227_214820229dup - CENPF(NM_016343.4):c.7314_7316dup (p.(Ala2439dup)) - CENPF_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7326G>A r.(?) p.(Met2442Ile) Unknown - VUS g.214820239G>A - CENPF(NM_016343.4):c.7326G>A (p.M2442I) - CENPF_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7506A>G r.(?) p.(Ser2502=) Unknown - likely benign g.214820419A>G - CENPF(NM_016343.4):c.7506A>G (p.S2502=) - CENPF_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7524A>G r.(?) p.(Gln2508=) Unknown - VUS g.214820437A>G g.214647094A>G CENPF(NM_016343.3):c.7524A>G (p.Q2508=) - CENPF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.7904T>C r.(?) p.(Leu2635Pro) Unknown - likely pathogenic g.214822091T>C g.214648748T>C - - CENPF_000007 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Unknown - - - - - DNA SEQ - - BBS - PubMed: Waters 2015, Journal: Waters 2015 - - - - - - - - - 1 Johan den Dunnen
?/. - c.8083G>A r.(?) p.(Glu2695Lys) Unknown - VUS g.214825152G>A - CENPF(NM_016343.4):c.8083G>A (p.E2695K) - CENPF_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8322+1G>T r.spl? p.? Unknown - VUS g.214826333G>T - CENPF(NM_016343.4):c.8322+1G>T - CENPF_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8322+1G>T r.spl? p.? Unknown - VUS g.214826333G>T - CENPF(NM_016343.4):c.8322+1G>T - CENPF_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8391G>C r.(?) p.(Leu2797Phe) Unknown - VUS g.214828652G>C g.214655309G>C CENPF(NM_016343.4):c.8391G>C (p.L2797F) - CENPF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8692C>T r.(?) p.(Arg2898*) Maternal (confirmed) - pathogenic g.214830482C>T g.214657139C>T - - CENPF_000003 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MCPH1 - PubMed: Waters 2015, Journal: Waters 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
-?/. - c.8736A>C r.(?) p.(Pro2912=) Unknown - likely benign g.214830526A>C - CENPF(NM_016343.3):c.8736A>C (p.(Pro2912=)), CENPF(NM_016343.4):c.8736A>C (p.P2912=) - CENPF_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8736A>C r.(?) p.(Pro2912=) Unknown - likely benign g.214830526A>C - CENPF(NM_016343.3):c.8736A>C (p.(Pro2912=)), CENPF(NM_016343.4):c.8736A>C (p.P2912=) - CENPF_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8802A>G r.(?) p.(=) Unknown - likely benign g.214830592A>G - CENPF(NM_016343.4):c.8802A>G (p.R2934=) - CENPF_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8963-9dup r.(=) p.(=) Unknown - likely benign g.214832184dup - CENPF(NM_016343.4):c.8963-9dupT - CENPF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8978C>T r.(?) p.(Pro2993Leu) Unknown - VUS g.214832208C>T - CENPF(NM_016343.3):c.8978C>T (p.P2993L) - CENPF_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9081C>T r.(?) p.(Leu3027=) Unknown - benign g.214832311C>T - CENPF(NM_016343.4):c.9081C>T (p.L3027=) - CENPF_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9187C>T r.(?) p.(Arg3063*) Unknown - VUS g.214836979C>T - CENPF(NM_016343.4):c.9187C>T (p.(Arg3063Ter)) - CENPF_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.9280C>T r.(?) p.(Arg3094*) Maternal (confirmed) - pathogenic (dominant) g.214837072C>T g.214663729C>T - - CENPF_000010 - PubMed: Filges 2016 - rs869312748 Germline yes - - - - DNA SEQ-NG - - STROMS 26820108-FamB PubMed: Filges 2016 2-generation family, 2 affected (F, fetus), unaffected heterozygous carrier parents F ? - - - - - - 2 Isabel Filges
+/. - c.9280C>T r.(?) p.(Arg3094*) Maternal (confirmed) - pathogenic (dominant) g.214837072C>T g.214663729C>T - - CENPF_000010 - PubMed: Filges 2016 - - Germline yes - - - - DNA SEQ-NG - - STROMS 26820108-FamB PubMed: Filges 2016 - M ? - - - - - - 1 Isabel Filges
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