Full data view for gene KIF21A

Information The variants shown are described using the NM_001173464.1 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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-?/. - c.-4022C>T r.(?) p.(=) Unknown - likely benign g.39840794G>A - KIF21A(NM_001173464.2):c.-4022C>T - KIF21A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.318T>G r.(?) p.(Ile106Met) Unknown - VUS g.39763663A>C - KIF21A(NM_001173464.1):c.318T>G (p.I106M) - KIF21A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.451-6del r.(=) p.(=) Unknown - likely benign g.39761846del g.39368044del KIF21A(NM_001173464.1):c.451-6delT - KIF21A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455A>G r.(?) p.(Tyr152Cys) Unknown - VUS g.39761830T>C - KIF21A(NM_001173464.1):c.455A>G (p.Y152C) - KIF21A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600+314T>G r.(=) p.(=) Unknown - likely benign g.39761371A>C - KIF21A(NM_001173464.2):c.600+314T>G - KIF21A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008C>T r.(?) p.(Leu336=) Unknown - likely benign g.39756911G>A - KIF21A(NM_001173464.1):c.1008C>T (p.L336=) - KIF21A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038A>G r.(?) p.(Ala346=) Unknown - likely benign g.39752157T>C g.39358355T>C KIF21A(NM_001173464.1):c.1038A>G (p.A346=) - KIF21A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054G>C r.(?) p.(Asp352His) Unknown - VUS g.39752141C>G - KIF21A(NM_001173464.1):c.1054G>C (p.D352H) - KIF21A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1067T>C r.(?) p.(Met356Thr) Maternal (confirmed) - likely pathogenic g.39752128A>G g.39358326A>G - - KIF21A_000048 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat53 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
?/. - c.1072A>T r.(?) p.(Thr358Ser) Unknown - VUS g.39752123T>A - KIF21A(NM_001173464.1):c.1072A>T (p.T358S) - KIF21A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1240G>C r.(?) p.(Gly414Arg) Unknown - likely benign g.39751215C>G g.39357413C>G KIF21A(NM_001173464.2):c.1240G>C (p.(Gly414Arg), p.G414R) - KIF21A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1240G>C r.(?) p.(Gly414Arg) Unknown - likely benign g.39751215C>G - KIF21A(NM_001173464.2):c.1240G>C (p.(Gly414Arg), p.G414R) - KIF21A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1264T>C r.(?) p.(Phe422Leu) Unknown - VUS g.39751191A>G - KIF21A(NM_001173464.1):c.1264T>C (p.F422L) - KIF21A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270G>C r.(?) p.(Glu424Gln) Unknown - VUS g.39751185C>G - KIF21A(NM_001173464.1):c.1270G>C (p.(Glu424Gln)) - KIF21A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1346T>A r.(?) p.(Leu449Ter) Both (homozygous) - likely pathogenic (recessive) g.39751109A>T g.39357307A>T - - KIF21A_000045 candidate gene PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam22PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 3 affected fetuses (F, 2M) M - Germany - <0d - - - 3 Johan den Dunnen
+?/. - c.1346T>A r.(?) p.(Leu449Ter) Both (homozygous) - likely pathogenic (recessive) g.39751109A>T g.39357307A>T - - KIF21A_000045 candidate gene PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam22PatII2 PubMed: Falb 2023, Journal: Falb 2023 fetus 2 F - Germany - <0d - - - 1 Johan den Dunnen
+?/. - c.1346T>A r.(?) p.(Leu449Ter) Both (homozygous) - likely pathogenic (recessive) g.39751109A>T g.39357307A>T - - KIF21A_000045 candidate gene PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam22PatII4 PubMed: Falb 2023, Journal: Falb 2023 fetus 3 M - Germany - <0d - - - 1 Johan den Dunnen
-?/. - c.1542G>A r.(?) p.(Ala514=) Unknown - likely benign g.39745710C>T - KIF21A(NM_001173464.1):c.1542G>A (p.A514=) - KIF21A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1628A>G r.(?) p.(Lys543Arg) Parent #1 - likely benign g.39745624T>C g.39351822T>C - - KIF21A_000028 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs149219011 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.1713-11C>G r.(=) p.(=) Unknown - likely benign g.39735937G>C g.39342135G>C KIF21A(NM_001173464.2):c.1713-11C>G - KIF21A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1834G>A r.(?) p.(Asp612Asn) Unknown - likely benign g.39735394C>T - KIF21A(NM_001173464.1):c.1834G>A (p.D612N) - KIF21A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1851G>A r.(?) p.(Glu617=) Unknown - likely benign g.39735377C>T - KIF21A(NM_001173464.1):c.1851G>A (p.E617=) - KIF21A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1854_1862del r.(?) p.(Glu619_Glu621del) Paternal (confirmed) - likely pathogenic (recessive) g.39735377_39735385del g.39341575_39341583del - - KIF21A_000047 - PubMed: Masunaga 2022 - - Germline - - - - - DNA SEQ-NG-I blood - skeletal dysplasia Pat1 PubMed: Masunaga 2022 2-generation family, 1 affected, unaffected carrier parents M no Japan - - - - - 1 Yohei Masunaga
?/. - c.1860_1862del r.(?) p.(Glu621del) Unknown - VUS g.39735383_39735385del - KIF21A(NM_001173464.1):c.1860_1862delGGA (p.E621del) - KIF21A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1880G>T r.(?) p.(Gly627Val) Unknown - benign g.39735348C>A g.39341546C>A KIF21A(NM_001173464.2):c.1880G>T (p.G627V) - KIF21A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1880G>T r.(?) p.(Gly627Val) Unknown - benign g.39735348C>A g.39341546C>A KIF21A(NM_001173464.2):c.1880G>T (p.G627V) - KIF21A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1880G>T r.(?) p.(Gly627Val) Parent #1 - likely benign g.39735348C>A g.39341546C>A - - KIF21A_000004 174 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79089655 Germline - 174/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 174 Mohammed Faruq
-?/. - c.1880G>T r.(?) p.(Gly627Val) Both (homozygous) - likely benign g.39735348C>A g.39341546C>A - - KIF21A_000004 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79089655 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.1886G>T r.(?) p.(Ser629Ile) Maternal (confirmed) - pathogenic (recessive) g.39735342C>A g.39341540C>A - - KIF21A_000046 - PubMed: Masunaga 2022 - - Germline - - - - - DNA SEQ-NG-I blood - skeletal dysplasia Pat1 PubMed: Masunaga 2022 2-generation family, 1 affected, unaffected carrier parents M no Japan - - - - - 1 Yohei Masunaga
-?/. - c.2211A>C r.(?) p.(Ala737=) Unknown - likely benign g.39734066T>G g.39340264T>G KIF21A(NM_001173464.1):c.2211A>C (p.A737=) - KIF21A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2346G>A r.(?) p.(Glu782=) Unknown - likely benign g.39730970C>T g.39337168C>T KIF21A(NM_001173464.1):c.2346G>A (p.E782=) - KIF21A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2371del r.(?) p.(Arg791GlufsTer8) Both (homozygous) - likely pathogenic (recessive) g.39730946del g.39337144del - - KIF21A_000044 candidate gene PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam23PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 2 affected fetuses (F, M) M - Germany - <0d - - - 2 Johan den Dunnen
+?/. - c.2371del r.(?) p.(Arg791GlufsTer8) Both (homozygous) - likely pathogenic (recessive) g.39730946del g.39337144del - - KIF21A_000044 candidate gene PubMed: Falb 2023, Journal: Falb 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam23PatII2 PubMed: Falb 2023, Journal: Falb 2023 fetus 2 F - Germany - <0d - - - 1 Johan den Dunnen
?/. - c.2381A>G r.(?) p.(Glu794Gly) Unknown - VUS g.39730935T>C - KIF21A(NM_001173464.1):c.2381A>G (p.(His794Arg)) - KIF21A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2407C>T r.(?) p.(Arg803Cys) Unknown - VUS g.39730909G>A - KIF21A(NM_001173464.1):c.2407C>T (p.R803C) - KIF21A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2416G>C r.(?) p.(Asp806His) Unknown - VUS g.39730900C>G - KIF21A(NM_017641.3):c.2377G>C (p.(Asp793His)) - KIF21A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2568T>C r.(?) p.(Asp856=) Unknown - likely benign g.39726829A>G - KIF21A(NM_001173464.1):c.2568T>C (p.D856=) - KIF21A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2663G>C r.(?) p.(Arg888Thr) Unknown ACMG VUS g.39726734C>G g.39332932C>G - - KIF21A_000008 ACMG grading: PP3,PM2 - - rs781301465 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
-?/. - c.2681C>T r.(?) p.(Thr894Met) Unknown - likely benign g.39726716G>A g.39332914G>A KIF21A(NM_001173464.1):c.2681C>T (p.T894M) - KIF21A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2735G>A r.(?) p.(Arg912Gln) Unknown - VUS g.39726514C>T g.39332712C>T KIF21A(NM_001173464.1):c.2735G>A (p.R912Q) - KIF21A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2759G>A r.(?) p.(Arg920His) Unknown - VUS g.39726490C>T g.39332688C>T - - KIF21A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2840T>A r.(?) p.(Met947Lys) Unknown - pathogenic g.39726409A>T g.39332607A>T - - KIF21A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2840T>A r.(?) p.(Met947Lys) Parent #1 - pathogenic g.39726409A>T g.39332607A>T NM_001173464.1:2840T>A (Met947Lys) - KIF21A_000006 - PubMed: Haer-Wigman 2017 - - De novo - - - - - DNA SEQ-NG - WES ? 5669 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
+/. - c.2860C>T r.(?) p.(Arg954Trp) Unknown - pathogenic g.39726207G>A g.39332405G>A KIF21A(NM_001173464.2):c.2860C>T (p.(Arg954Trp)), KIF21A(NM_017641.4):c.2821C>T (p.R941W) - KIF21A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2860C>T r.(?) p.(Arg954Trp) Unknown - pathogenic g.39726207G>A - KIF21A(NM_001173464.2):c.2860C>T (p.(Arg954Trp)), KIF21A(NM_017641.4):c.2821C>T (p.R941W) - KIF21A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2860C>T r.(?) p.(Arg954Trp) Unknown - pathogenic g.39726207G>A - KIF21A(NM_001173464.2):c.2860C>T (p.(Arg954Trp)), KIF21A(NM_017641.4):c.2821C>T (p.R941W) - KIF21A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2899A>G r.(?) p.(Arg967Gly) Unknown - likely pathogenic (dominant) g.39726168T>C - - - KIF21A_000035 - - - - Unknown - - - - - DNA SEQ - - CCDD F3:I-2 - - F no United Kingdom (Great Britain) - - - - - 1 Mervyn Thomas
+?/. - c.2899A>G r.(?) p.(Arg967Gly) Maternal (confirmed) - likely pathogenic (dominant) g.39726168T>C - - - KIF21A_000035 - - - - Germline - - - - - DNA SEQ - - CCDD F3:II-2 - - F - - - - - - - 1 Mervyn Thomas
+?/. - c.2899A>G r.(?) p.(Arg967Gly) Maternal (confirmed) - likely pathogenic (dominant) g.39726168T>C - - - KIF21A_000035 - - - - Germline yes - - - - DNA SEQ - - CCDD F3:III-1 - - F - - - - - - - 1 Mervyn Thomas
+?/. - c.2899A>G r.(?) p.(Arg967Gly) Unknown - likely pathogenic (dominant) g.39726168T>C - - - KIF21A_000035 - - - - Unknown - - - - - DNA SEQ - - CCDD S1:II-1 - - - - - - - - - - 1 Mervyn Thomas
+?/. - c.2998_3000del r.(?) p.(Asn1000del) Unknown ACMG likely pathogenic g.39726067_39726069del g.39332265_39332267del - - KIF21A_000009 ACMG grading: PM6,PM4,PM2; de novo after segregation analysis; reported in Wang (2011) Int J Mol Med epub - - - Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.3149A>G r.(?) p.(Asn1050Ser) Parent #1 - likely benign g.39725496T>C g.39331694T>C - - KIF21A_000027 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142268373 Germline - 6/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.3149A>G r.(?) p.(Asn1050Ser) Unknown - likely benign g.39725496T>C - KIF21A(NM_001173464.1):c.3149A>G (p.N1050S) - KIF21A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3218A>G r.(?) p.(Glu1073Gly) Unknown - VUS g.39724649T>C g.39330847T>C KIF21A(NM_001173464.1):c.3218A>G (p.E1073G) - KIF21A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3306_3319+1dup r.spl? p.? Unknown - likely benign g.39724550_39724564dup g.39330748_39330762dup KIF21A(NM_001173464.1):c.3319+1_3319+2insCCTTGTAAAGCATGG - KIF21A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3332T>C r.(?) p.(Val1111Ala) Unknown - likely benign g.39724052A>G g.39330250A>G KIF21A(NM_001173464.1):c.3332T>C (p.V1111A) - KIF21A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3492G>A r.(?) p.(Leu1164=) Unknown - likely benign g.39716649C>T - KIF21A(NM_001173464.1):c.3492G>A (p.L1164=) - KIF21A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3538G>A r.(?) p.(Ala1180Thr) Unknown - VUS g.39716603C>T - KIF21A(NM_001173464.2):c.3538G>A (p.(Ala1180Thr)) - KIF21A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3641C>G r.(?) p.(Pro1214Arg) Unknown - VUS g.39716500G>C g.39322698G>C KIF21A(NM_001173464.1):c.3641C>G (p.P1214R), KIF21A(NM_017641.4):c.3602C>G (p.P1201R) - KIF21A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3641C>G r.(?) p.(Pro1214Arg) Unknown - likely benign g.39716500G>C - KIF21A(NM_001173464.1):c.3641C>G (p.P1214R), KIF21A(NM_017641.4):c.3602C>G (p.P1201R) - KIF21A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3758C>T r.(?) p.(Ser1253Leu) Unknown - VUS g.39713729G>A - KIF21A(NM_017641.4):c.3719C>T (p.S1240L) - KIF21A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3926C>A r.(?) p.(Ser1309Tyr) Unknown - VUS g.39709755G>T g.39315953G>T KIF21A(NM_001173464.1):c.3926C>A (p.S1309Y) - KIF21A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3959G>A r.(?) p.(Arg1320Lys) Unknown - likely benign g.39709031C>T g.39315229C>T KIF21A(NM_001173464.2):c.3959G>A (p.R1320K) - KIF21A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4044A>G r.(?) p.(Lys1348=) Unknown - likely benign g.39705271T>C g.39311469T>C KIF21A(NM_001173464.1):c.4044A>G (p.K1348=) - KIF21A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4435C>G r.(?) p.(Leu1479Val) Maternal (confirmed) - VUS g.39701374G>C g.39307572G>C - - KIF21A_000025 - - - - Germline - - - - - DNA SEQ-NG-IT - WES ADHD - - - M - Saudi Arabia Arab - - - - 1 Nada Al Tassan
-/. - c.4536T>C r.(?) p.(Thr1512=) Unknown - benign g.39698647A>G g.39304845A>G KIF21A(NM_001173464.1):c.4536T>C (p.T1512=) - KIF21A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4542C>G r.(?) p.(Ser1514=) Unknown - benign g.39698641G>C g.39304839G>C KIF21A(NM_001173464.1):c.4542C>G (p.S1514=) - KIF21A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4562T>G r.(?) p.(Met1521Arg) Parent #1 - likely benign g.39696936A>C g.39303134A>C - - KIF21A_000026 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142038295 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
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