Full data view for gene CDK5RAP2

Information The variants shown are described using the NM_018249.4 transcript reference sequence.

133 entries on 2 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     
-/. - c.-19T>C r.(?) p.(=) Unknown - benign g.123342275A>G g.120579997A>G CDK5RAP2(NM_018249.5):c.-19T>C, CDK5RAP2(NR_073556.2):n.171T>C - CDK5RAP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-19T>C r.(?) p.(=) Unknown - benign g.123342275A>G g.120579997A>G CDK5RAP2(NM_018249.5):c.-19T>C, CDK5RAP2(NR_073556.2):n.171T>C - CDK5RAP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-19T>C r.(?) p.(=) Unknown - benign g.123342275A>G g.120579997A>G CDK5RAP2(NM_018249.5):c.-19T>C, CDK5RAP2(NR_073556.2):n.171T>C - CDK5RAP2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3G>T r.(?) p.(=) Unknown - benign g.123342259C>A g.120579981C>A CDK5RAP2(NM_018249.5):c.-3G>T, CDK5RAP2(NR_073556.2):n.187G>T - CDK5RAP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3G>T r.(?) p.(=) Unknown - benign g.123342259C>A g.120579981C>A CDK5RAP2(NM_018249.5):c.-3G>T, CDK5RAP2(NR_073556.2):n.187G>T - CDK5RAP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3G>T r.(?) p.(=) Unknown - benign g.123342259C>A g.120579981C>A CDK5RAP2(NM_018249.5):c.-3G>T, CDK5RAP2(NR_073556.2):n.187G>T - CDK5RAP2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1A>G r.(?) p.(Met1?) Unknown - VUS g.123342256T>C - CDK5RAP2(NM_018249.5):c.1A>G (p.M1?) - CDK5RAP2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51C>T r.(?) p.(Ser17=) Unknown - likely benign g.123342206G>A g.120579928G>A CDK5RAP2(NM_018249.5):c.51C>T (p.S17=) - CDK5RAP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.59+1G>T r.spl? p.? Unknown - pathogenic g.123342197C>A g.120579919C>A CDK5RAP2(NM_018249.6):c.59+1G>T - CDK5RAP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128-147A>G r.(=) p.(=) Both (homozygous) - VUS g.123330813T>C g.120568535T>C - - CDK5RAP2_000002 - PubMed: Almomani 2011 {dbSNP:4837782} - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.238C>T r.(?) p.(Arg80Cys) Unknown - VUS g.123313138G>A - CDK5RAP2(NM_018249.6):c.238C>T (p.(Arg80Cys)) - CDK5RAP2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239G>A r.(?) p.(Arg80His) Unknown - VUS g.123313137C>T g.120550859C>T CDK5RAP2(NM_018249.5):c.239G>A (p.R80H) - CDK5RAP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307-208A>G r.(=) p.(=) Both (homozygous) - VUS g.123308276T>C g.120545998T>C - - CDK5RAP2_000001 - PubMed: Almomani 2011 {dbSNP:10739564} - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.307-4G>A r.spl? p.? Unknown - benign g.123308072C>T g.120545794C>T CDK5RAP2(NM_018249.5):c.307-4G>A - CDK5RAP2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412G>A r.(?) p.(Gly138Ser) Unknown - VUS g.123301414C>T g.120539136C>T CDK5RAP2(NM_018249.5):c.412G>A (p.G138S) - CDK5RAP2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480A>C r.(?) p.(Leu160=) Unknown - benign g.123301346T>G g.120539068T>G CDK5RAP2(NM_018249.5):c.480A>C (p.L160=) - CDK5RAP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480A>C r.(?) p.(Leu160=) Unknown - benign g.123301346T>G g.120539068T>G CDK5RAP2(NM_018249.5):c.480A>C (p.L160=) - CDK5RAP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.507+12A>G r.(=) p.(=) Unknown - benign g.123301307T>C g.120539029T>C CDK5RAP2(NM_018249.5):c.507+12A>G - CDK5RAP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512T>A r.(?) p.(Val171Glu) Unknown - VUS g.123298800A>T - CDK5RAP2(NM_018249.6):c.512T>A (p.V171E) - CDK5RAP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524_528del r.(?) p.(Gln175ArgfsTer42) Unknown - VUS g.123298784_123298788del g.120536506_120536510del CDK5RAP2(NM_018249.5):c.524_528delAGGCA (p.Q175Rfs*42) - CDK5RAP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Gly184Arg) Unknown - likely benign g.123298762C>T - CDK5RAP2(NM_018249.5):c.550G>A (p.G184R) - CDK5RAP2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.558_559del r.(?) p.(Glu186Aspfs*32) Unknown - likely pathogenic g.123298756_123298757del - CDK5RAP2(NM_018249.6):c.558_559del (p.(Glu186Aspfs*32)) - CDK5RAP2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660C>A r.(?) p.(Asp220Glu) Unknown - VUS g.123298652G>T g.120536374G>T CDK5RAP2(NM_018249.5):c.660C>A (p.D220E) - CDK5RAP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.817G>A r.(?) p.(Glu273Lys) Unknown - VUS g.123292264C>T g.120529986C>T CDK5RAP2(NM_001011649.1):c.817G>A (p.(Glu273Lys)) - CDK5RAP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.865G>C r.(?) p.(Glu289Gln) Unknown - benign g.123291036C>G g.120528758C>G CDK5RAP2(NM_018249.5):c.865G>C (p.E289Q), CDK5RAP2(NM_018249.6):c.865G>C (p.E289Q) - CDK5RAP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.865G>C r.(?) p.(Glu289Gln) Unknown - benign g.123291036C>G g.120528758C>G CDK5RAP2(NM_018249.5):c.865G>C (p.E289Q), CDK5RAP2(NM_018249.6):c.865G>C (p.E289Q) - CDK5RAP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.865G>C r.(?) p.(Glu289Gln) Unknown - benign g.123291036C>G g.120528758C>G CDK5RAP2(NM_018249.5):c.865G>C (p.E289Q), CDK5RAP2(NM_018249.6):c.865G>C (p.E289Q) - CDK5RAP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879+26G>T r.(=) p.(=) Unknown - benign g.123290996C>A g.120528718C>A CDK5RAP2(NM_018249.5):c.879+26G>T - CDK5RAP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.880-7A>G r.(=) p.(=) Unknown - benign g.123290210T>C g.120527932T>C CDK5RAP2(NM_018249.5):c.880-7A>G - CDK5RAP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.951del r.(?) p.(Asp317GlufsTer7) Unknown - pathogenic g.123290132del g.120527854del CDK5RAP2(NM_018249.5):c.951delT (p.D317Efs*7) - CDK5RAP2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.985T>A r.(?) p.(Ser329Thr) Unknown - likely benign g.123290098A>T g.120527820A>T CDK5RAP2(NM_001011649.1):c.985T>A (p.(Ser329Thr)) - CDK5RAP2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.986C>A r.(?) p.(Ser329Ter) Unknown - likely benign g.123290097G>T g.120527819G>T CDK5RAP2(NM_001011649.1):c.986C>A (p.(Ser329Ter)) - CDK5RAP2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.991G>A r.(?) p.(Glu331Lys) Unknown - likely benign g.123290092C>T g.120527814C>T CDK5RAP2(NM_001011649.1):c.991G>A (p.(Glu331Lys)) - CDK5RAP2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079C>T r.(?) p.(Thr360Ile) Unknown - VUS g.123287277G>A - CDK5RAP2(NM_018249.5):c.1079C>T (p.T360I) - CDK5RAP2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1093-27A>G r.(=) p.(=) Unknown - benign g.123280950T>C g.120518672T>C CDK5RAP2(NM_018249.5):c.1093-27A>G - CDK5RAP2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1093-14G>A r.(=) p.(=) Unknown - benign g.123280937C>T g.120518659C>T CDK5RAP2(NM_018249.5):c.1093-14G>A - CDK5RAP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1093-3T>C r.spl? p.? Unknown - likely benign g.123280926A>G - CDK5RAP2(NM_018249.6):c.1093-3T>C - CDK5RAP2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1093-2A>G r.spl? p.? Unknown - pathogenic g.123280925T>C g.120518647T>C CDK5RAP2(NM_018249.5):c.1093-2A>G - CDK5RAP2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.1139C>A r.(?) p.(Ser380Ter) Unknown - likely pathogenic g.123280877G>T g.120518599G>T - - CDK5RAP2_000095 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4086 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.1139C>T r.(?) p.(Ser380Leu) Unknown - likely benign g.123280877G>A g.120518599G>A CDK5RAP2(NM_018249.5):c.1139C>T (p.S380L) - CDK5RAP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1149_1153dup r.(?) p.(Ser385CysfsTer26) Unknown - pathogenic g.123280871_123280875dup - CDK5RAP2(NM_018249.6):c.1149_1153dupGCGCT (p.S385Cfs*26) - CDK5RAP2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1218G>A r.(?) p.(Gln406=) Unknown - likely benign g.123280798C>T g.120518520C>T CDK5RAP2(NM_018249.5):c.1218G>A (p.Q406=) - CDK5RAP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1279C>T r.(?) p.Arg427* Both (homozygous) - pathogenic (recessive) g.123280737G>A g.120518459G>A - - CDK5RAP2_000107 - PubMed: Ahmad 2017 - - Germline - - - - - DNA SEQ - - microcephaly MCP121 PubMed: Ahmad 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous parents/relatives F;M yes Pakistan Sindhi - - - - 3 Johan den Dunnen
?/. - c.1339C>G r.(?) p.(Arg447Gly) Unknown - VUS g.123253728G>C g.120491450G>C CDK5RAP2(NM_001011649.1):c.1339C>G (p.(Arg447Gly)) - CDK5RAP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1340G>A r.(?) p.(Arg447His) Unknown - VUS g.123253727C>T - CDK5RAP2(NM_018249.6):c.1340G>A (p.R447H) - CDK5RAP2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1376del r.(?) p.(Asn459IlefsTer7) Unknown - VUS g.123253694del g.120491416del CDK5RAP2(NM_001011649.1):c.1376del (p.(Asn459IlefsTer7)) - CDK5RAP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1376del r.(?) p.(Asn459IlefsTer7) Both (homozygous) - pathogenic (recessive) g.123253694del g.120491416del - - CDK5RAP2_000043 - PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pan59;Pat18 PubMed: Duerinckx 2020, PubMed: Duerinckx 2021 patient F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.1376del r.(?) p.(Asn459IlefsTer7) Both (homozygous) - pathogenic (recessive) g.123253694del g.120491416del - - CDK5RAP2_000043 - PubMed: Duerinckx 2021 - - Germline - - - - - DNA SEQ-NG - - microcephaly Pat19 PubMed: Duerinckx 2021 family, 2 affected sisters F yes Morocco - - - - - 2 Johan den Dunnen
?/. - c.1379G>A r.(?) p.(Arg460His) Unknown - VUS g.123253688C>T g.120491410C>T CDK5RAP2(NM_001011649.1):c.1379G>A (p.(Arg460His)) - CDK5RAP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1406A>G r.(?) p.(Asn469Ser) Unknown - likely benign g.123253661T>C g.120491383T>C CDK5RAP2(NM_018249.5):c.1406A>G (p.N469S) - CDK5RAP2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1476_1479del r.(?) p.(Leu492PhefsTer11) Both (homozygous) ACMG pathogenic (recessive) g.123253590_123253593del g.120491312_120491315del - - CDK5RAP2_000098 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8600481 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Zaboli - - - - 2 Johan den Dunnen
-/. - c.1483-29T>G r.(=) p.(=) Unknown - benign g.123249744A>C g.120487466A>C CDK5RAP2(NM_018249.5):c.1483-29T>G - CDK5RAP2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1483-27T>G r.(=) p.(=) Unknown - benign g.123249742A>C g.120487464A>C CDK5RAP2(NM_018249.5):c.1483-27T>G - CDK5RAP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1498G>C r.(?) p.(Asp500His) Unknown - VUS g.123249700C>G g.120487422C>G CDK5RAP2(NM_018249.5):c.1498G>C (p.D500H) - CDK5RAP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1712T>C r.(?) p.(Leu571Pro) Unknown - VUS g.123239643A>G - CDK5RAP2(NM_018249.5):c.1712T>C (p.L571P) - CDK5RAP2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1727+15C>G r.(=) p.(=) Unknown - benign g.123239613G>C g.120477335G>C CDK5RAP2(NM_018249.5):c.1727+15C>G - CDK5RAP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1728-2A>C r.spl? p.? Unknown - pathogenic g.123234158T>G g.120471880T>G CDK5RAP2(NM_018249.6):c.1728-2A>C - CDK5RAP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1846C>T r.(?) p.(Arg616Trp) Unknown - VUS g.123234038G>A - CDK5RAP2(NM_018249.5):c.1846C>T (p.R616W) - CDK5RAP2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1859-6G>T r.(=) p.(=) Unknown - likely benign g.123232504C>A g.120470226C>A CDK5RAP2(NM_001011649.1):c.1859-6G>T (p.(=)) - CDK5RAP2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1865C>G r.(?) p.(Ser622*) Both (homozygous) ACMG likely pathogenic g.123232492G>C g.120470214G>C - - CDK5RAP2_000005 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - MCPH3 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
-?/. - c.2107-83_2107-82del r.(=) p.(=) Unknown - likely benign g.123223036_123223037del - CDK5RAP2(NM_018249.6):c.2107-83_2107-82delAA - CDK5RAP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2255C>T r.(?) p.(Thr752Met) Unknown - VUS g.123220848G>A g.120458570G>A CDK5RAP2(NM_018249.5):c.2255C>T (p.T752M) - CDK5RAP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2274T>C r.(?) p.(Asp758=) Unknown - benign g.123220829A>G g.120458551A>G CDK5RAP2(NM_018249.5):c.2274T>C (p.D758=), CDK5RAP2(NM_018249.6):c.2274T>C (p.D758=) - CDK5RAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2274T>C r.(?) p.(Asp758=) Unknown - benign g.123220829A>G g.120458551A>G CDK5RAP2(NM_018249.5):c.2274T>C (p.D758=), CDK5RAP2(NM_018249.6):c.2274T>C (p.D758=) - CDK5RAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2274T>C r.(?) p.(Asp758=) Unknown - benign g.123220829A>G g.120458551A>G CDK5RAP2(NM_018249.5):c.2274T>C (p.D758=), CDK5RAP2(NM_018249.6):c.2274T>C (p.D758=) - CDK5RAP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2289C>T r.(?) p.(His763=) Unknown - likely benign g.123220814G>A g.120458536G>A CDK5RAP2(NM_018249.5):c.2289C>T (p.H763=) - CDK5RAP2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2294C>G r.(?) p.(Pro765Arg) Unknown - VUS g.123220809G>C g.120458531G>C CDK5RAP2(NM_018249.5):c.2294C>G (p.P765R) - CDK5RAP2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2346T>C r.(?) p.(Asn782=) Unknown - likely benign g.123220757A>G - CDK5RAP2(NM_018249.5):c.2346T>C (p.N782=) - CDK5RAP2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2398C>T r.(?) p.(Arg800Trp) Unknown - likely benign g.123216129G>A - CDK5RAP2(NM_018249.5):c.2398C>T (p.R800W) - CDK5RAP2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2568G>A r.(?) p.(=) Unknown - likely benign g.123215959C>T - CDK5RAP2(NM_018249.5):c.2568G>A (p.Q856=) - CDK5RAP2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2643C>T r.(?) p.(Asp881=) Unknown - likely benign g.123215884G>A g.120453606G>A CDK5RAP2(NM_018249.5):c.2643C>T (p.D881=) - CDK5RAP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2655C>G r.(?) p.(Phe885Leu) Unknown - likely benign g.123215872G>C g.120453594G>C CDK5RAP2(NM_018249.5):c.2655C>G (p.F885L) - CDK5RAP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2809C>T r.(?) p.(Arg937Cys) Unknown - VUS g.123210389G>A g.120448111G>A CDK5RAP2(NM_018249.5):c.2809C>T (p.R937C) - CDK5RAP2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2858G>A r.(?) p.(Arg953His) Unknown - VUS g.123210340C>T - CDK5RAP2(NM_018249.5):c.2858G>A (p.R953H) - CDK5RAP2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2896A>T r.(?) p.(Ser966Cys) Unknown - VUS g.123210302T>A - CDK5RAP2(NM_018249.6):c.2896A>T (p.S966C) - CDK5RAP2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3002C>T r.(?) p.(Thr1001Met) Unknown - likely benign g.123210196G>A g.120447918G>A CDK5RAP2(NM_018249.5):c.3002C>T (p.T1001M) - CDK5RAP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3003G>A r.(?) p.(Thr1001=) Unknown - likely benign g.123210195C>T g.120447917C>T CDK5RAP2(NM_018249.5):c.3003G>A (p.T1001=) - CDK5RAP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3006C>G r.(?) p.(Pro1002=) Unknown - likely benign g.123210192G>C g.120447914G>C CDK5RAP2(NM_018249.5):c.3006C>G (p.P1002=) - CDK5RAP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3026-4G>A r.spl? p.? Unknown - VUS g.123206024C>T - CDK5RAP2(NM_018249.6):c.3026-4G>A - CDK5RAP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3065G>A r.(?) p.(Gly1022Glu) Unknown - benign g.123205981C>T g.120443703C>T CDK5RAP2(NM_018249.5):c.3065G>A (p.G1022E) - CDK5RAP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3065G>A r.(?) p.(Gly1022Glu) Unknown - benign g.123205981C>T g.120443703C>T CDK5RAP2(NM_018249.5):c.3065G>A (p.G1022E) - CDK5RAP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3065G>A r.(?) p.(Gly1022Glu) Parent #1 - benign g.123205981C>T g.120443703C>T - - CDK5RAP2_000029 28 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34523498 Germline - 28/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 28 Mohammed Faruq
-/. - c.3134G>C r.(?) p.(Arg1045Thr) Unknown - benign g.123205912C>G g.120443634C>G CDK5RAP2(NM_018249.5):c.3134G>C (p.R1045T) - CDK5RAP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3134G>C r.(?) p.(Arg1045Thr) Unknown - benign g.123205912C>G g.120443634C>G CDK5RAP2(NM_018249.5):c.3134G>C (p.R1045T) - CDK5RAP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3265T>C r.(?) p.(Ser1089Pro) Parent #1 - VUS g.123202134A>G g.120439856A>G - - CDK5RAP2_000089 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138526640 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.3265T>C r.(?) p.(Ser1089Pro) Unknown - VUS g.123202134A>G - CDK5RAP2(NM_018249.5):c.3265T>C (p.S1089P) - CDK5RAP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3278G>C r.(?) p.(Ser1093Thr) Unknown - likely benign g.123202121C>G g.120439843C>G CDK5RAP2(NM_018249.5):c.3278G>C (p.S1093T) - CDK5RAP2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3441G>A r.(?) p.(Leu1147=) Unknown - likely benign g.123201958C>T - CDK5RAP2(NM_018249.5):c.3441G>A (p.L1147=) - CDK5RAP2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3558C>T r.(?) p.(Leu1186=) Unknown - likely benign g.123201841G>A g.120439563G>A CDK5RAP2(NM_018249.5):c.3558C>T (p.L1186=) - CDK5RAP2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3851T>A r.(?) p.(Leu1284Ter) Unknown - pathogenic g.123199677A>T g.120437399A>T - - CDK5RAP2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3866A>T r.(?) p.(Asp1289Val) Unknown - VUS g.123199662T>A g.120437384T>A CDK5RAP2(NM_018249.5):c.3866A>T (p.D1289V) - CDK5RAP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4041G>A r.(?) p.(Leu1347=) Unknown - benign g.123182202C>T g.120419924C>T CDK5RAP2(NM_018249.5):c.4041G>A (p.L1347=) - CDK5RAP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4041G>A r.(?) p.(Leu1347=) Unknown - benign g.123182202C>T g.120419924C>T CDK5RAP2(NM_018249.5):c.4041G>A (p.L1347=) - CDK5RAP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4256T>A r.(?) p.(Leu1419Gln) Unknown - VUS g.123177359A>T - CDK5RAP2(NM_018249.6):c.4256T>A (p.(Leu1419Gln)) - CDK5RAP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4259G>T r.(?) p.(Arg1420Leu) Unknown - VUS g.123177356C>A g.120415078C>A CDK5RAP2(NM_018249.5):c.4259G>T (p.R1420L) - CDK5RAP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4325C>T r.(?) p.(Ser1442Leu) Unknown - likely benign g.123173725G>A g.120411447G>A CDK5RAP2(NM_018249.6):c.4325C>T (p.S1442L) - CDK5RAP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4415-161A>G r.(=) p.(=) Parent #1 - VUS g.123171755T>C g.120409477T>C - - CDK5RAP2_000004 - PubMed: Almomani 2011 {dbSNP:2297454} - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.4415-161A>G r.(=) p.(=) Parent #1 - VUS g.123171755T>C g.120409477T>C - - CDK5RAP2_000004 - PubMed: Almomani 2011 {dbSNP:2297454} - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.4517A>G r.(?) p.(Glu1506Gly) Unknown - VUS g.123171492T>C g.120409214T>C CDK5RAP2(NM_018249.5):c.4517A>G (p.E1506G) - CDK5RAP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4526A>G r.(?) p.(Gln1509Arg) Unknown - likely benign g.123171483T>C - CDK5RAP2(NM_018249.5):c.4526A>G (p.Q1509R) - CDK5RAP2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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