Full data view for gene DNAH10

Information The variants shown are described using the NM_207437.3 transcript reference sequence.

154 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.-4596del r.(?) p.(=) Unknown - benign g.124242471del g.123757924del ATP6V0A2(NM_012463.3):c.2466-3delT, ATP6V0A2(NM_012463.4):c.2466-3delT - ATP6V0A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4596del r.(?) p.(=) Unknown - benign g.124242471del - ATP6V0A2(NM_012463.3):c.2466-3delT, ATP6V0A2(NM_012463.4):c.2466-3delT - ATP6V0A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4596dup r.(?) p.(=) Unknown - benign g.124242471dup g.123757924dup ATP6V0A2(NM_012463.4):c.2466-3dupT - ATP6V0A2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4595A>T r.(?) p.(=) Unknown - benign g.124242472A>T g.123757925A>T ATP6V0A2(NM_012463.3):c.2466-2A>T (p.?) - ATP6V0A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4595A>T r.(?) p.(=) Unknown - VUS g.124242472A>T g.123757925A>T ATP6V0A2(NM_012463.3):c.2466-2A>T (p.?) - ATP6V0A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4595_-4592del r.(?) p.(=) Unknown - likely benign g.124242472_124242475del g.123757925_123757928del ATP6V0A2(NM_012463.3):c.2466-2_2467del (p.?) - ATP6V0A2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4594G>T r.(?) p.(=) Unknown - likely benign g.124242473G>T g.123757926G>T ATP6V0A2(NM_012463.3):c.2466-1G>T (p.?) - ATP6V0A2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4593G>T r.(?) p.(=) Unknown - likely benign g.124242474G>T g.123757927G>T ATP6V0A2(NM_012463.3):c.2466G>T (p.(Trp822Cys)) - ATP6V0A2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4592G>T r.(?) p.(=) Unknown - likely benign g.124242475G>T g.123757928G>T ATP6V0A2(NM_012463.3):c.2467G>T (p.(Val823Leu)) - ATP6V0A2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4591_-4590insTTTT r.(?) p.(=) Unknown - likely benign g.124242476_124242477insTTTT g.123757929_123757930insTTTT ATP6V0A2(NM_012463.3):c.2467_2468insTTTT (p.(Glu824PhefsTer29)) - ATP6V0A2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4510A>G r.(?) p.(=) Unknown - likely benign g.124242557A>G g.123758010A>G ATP6V0A2(NM_012463.3):c.2549A>G (p.N850S) - ATP6V0A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40C>T r.(?) p.(Pro14Ser) Unknown - likely benign g.124252161C>T - DNAH10(NM_207437.3):c.40C>T (p.P14S) - DNAH10_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270T>C r.(?) p.(Leu90=) Unknown - likely benign g.124257437T>C g.123772890T>C DNAH10(NM_207437.3):c.270T>C (p.L90=) - DNAH10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474G>A r.(?) p.(Arg158=) Unknown - likely benign g.124265662G>A g.123781115G>A DNAH10(NM_207437.3):c.474G>A (p.R158=) - DNAH10_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.499T>C r.(?) p.(Ser167Pro) Unknown - benign g.124265687T>C g.123781140T>C DNAH10(NM_207437.3):c.499T>C (p.S167P) - DNAH10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.659-16A>G r.(=) p.(=) Unknown - benign g.124267638A>G g.123783091A>G DNAH10(NM_207437.3):c.659-16A>G - DNAH10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.708T>C r.(?) p.(Ser236=) Unknown - benign g.124267703T>C g.123783156T>C DNAH10(NM_207437.3):c.708T>C (p.S236=) - DNAH10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.785C>T r.(?) p.(Ala262Val) Unknown - likely benign g.124267780C>T g.123783233C>T DNAH10(NM_207437.3):c.785C>T (p.(Ala262Val)) - DNAH10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786G>A r.(?) p.(Ala262=) Unknown - likely benign g.124267781G>A - DNAH10(NM_207437.3):c.786G>A (p.A262=) - DNAH10_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.817G>A r.(?) p.(Gly273Ser) Unknown - likely benign g.124268494G>A g.123783947G>A DNAH10(NM_207437.3):c.817G>A (p.(Gly273Ser)) - DNAH10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103T>C r.(?) p.(Met368Thr) Unknown - likely benign g.124270348T>C g.123785801T>C DNAH10(NM_207437.3):c.1103T>C (p.M368T) - DNAH10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1103T>C r.(?) p.(Met368Thr) Unknown - VUS g.124270348T>C - DNAH10(NM_207437.3):c.1103T>C (p.M368T) - DNAH10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1115G>A r.(?) p.(Arg372Gln) Unknown - VUS g.124270360G>A - DNAH10(NM_207437.3):c.1115G>A (p.(Arg372Gln)) - DNAH10_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1211G>A r.(?) p.(Arg404Gln) Unknown - VUS g.124270456G>A g.123785909G>A DNAH10(NM_207437.3):c.1211G>A (p.R404Q) - DNAH10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1222C>T r.(?) p.(Leu408=) Unknown - benign g.124270467C>T g.123785920C>T DNAH10(NM_207437.3):c.1222C>T (p.L408=) - DNAH10_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1270T>C r.(?) p.(Leu424=) Unknown - benign g.124272382T>C g.123787835T>C DNAH10(NM_207437.3):c.1270T>C (p.L424=) - DNAH10_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1330A>T r.(?) p.(Ile444Leu) Unknown - VUS g.124272442A>T g.123787895A>T DNAH10(NM_207437.3):c.1330A>T (p.I444L) - DNAH10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1438A>G r.(?) p.(Ile480Val) Unknown - benign g.124274474A>G g.123789927A>G DNAH10(NM_207437.3):c.1438A>G (p.I480V) - DNAH10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584C>T r.(?) p.(Ser528=) Unknown - likely benign g.124274620C>T g.123790073C>T DNAH10(NM_207437.3):c.1584C>T (p.S528=) - DNAH10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1742G>A r.(?) p.(Arg581Gln) Parent #1 - VUS g.124281312G>A - - - DNAH10_000094 - PubMed: Pannone 2020, Journal: Pannone 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Motta 2020, Journal: Motta 2020 - M no Italy white - - - - 1 Johan den Dunnen
-/. - c.1752T>C r.(?) p.(His584=) Unknown - benign g.124281322T>C g.123796775T>C DNAH10(NM_207437.3):c.1752T>C (p.H584=) - DNAH10_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1778A>G r.(?) p.(Gln593Arg) Unknown - VUS g.124281348A>G g.123796801A>G DNAH10(NM_207437.3):c.1778A>G (p.Q593R) - DNAH10_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1818A>G r.(?) p.(Gln606=) Unknown - benign g.124283801A>G g.123799254A>G DNAH10(NM_207437.3):c.1818A>G (p.Q606=) - DNAH10_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2003C>T r.(?) p.(Pro668Leu) Paternal (inferred) - VUS g.124284830C>T g.123800283C>T - - DNAH10_000001 - - - - Germline - - - - - DNA SEQ-NG blood - autism - - - M ? France - - - - - 1 Karine Poirier
-/. - c.2151G>T r.(?) p.(Met717Ile) Unknown - benign g.124285870G>T - DNAH10(NM_207437.3):c.2151G>T (p.M717I) - DNAH10_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2195A>G r.(?) p.(Asp732Gly) Unknown - likely benign g.124285914A>G g.123801367A>G DNAH10(NM_207437.3):c.2195A>G (p.(Asp732Gly)) - DNAH10_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2265C>T r.(?) p.(Ile755=) Unknown - benign g.124288212C>T g.123803665C>T DNAH10(NM_207437.3):c.2265C>T (p.I755=) - DNAH10_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2317G>A r.(?) p.(Val773Ile) Unknown - benign g.124288264G>A g.123803717G>A DNAH10(NM_207437.3):c.2317G>A (p.V773I) - DNAH10_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2700G>C r.(?) p.(Leu900=) Unknown - likely benign g.124293410G>C g.123808863G>C DNAH10(NM_207437.3):c.2700G>C (p.L900=) - DNAH10_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2703G>A r.(?) p.(Thr901=) Unknown - benign g.124293413G>A g.123808866G>A DNAH10(NM_207437.3):c.2703G>A (p.T901=) - DNAH10_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2742C>T r.(?) p.(Ile914=) Unknown - VUS g.124293452C>T - DNAH10(NM_001372106.1):c.3096C>T (p.(Ile1032=)) - DNAH10_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2983C>T r.(?) p.(Arg995Trp) Unknown - benign g.124297903C>T - DNAH10(NM_207437.3):c.2983C>T (p.R995W) - DNAH10_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2983C>T r.(?) p.(Arg995Trp) Unknown - benign g.124297903C>T - DNAH10(NM_207437.3):c.2983C>T (p.R995W) - DNAH10_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3109C>T r.(?) p.(Arg1037Cys) Unknown - VUS g.124298029C>T - DNAH10(NM_001372106.1):c.3463C>T (p.(Arg1155Cys)) - DNAH10_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3110G>A r.(?) p.(Arg1037His) Unknown - benign g.124298030G>A g.123813483G>A DNAH10(NM_207437.3):c.3110G>A (p.R1037H) - DNAH10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3157C>T r.(?) p.(His1053Tyr) Unknown - benign g.124298077C>T g.123813530C>T DNAH10(NM_207437.3):c.3157C>T (p.H1053Y) - DNAH10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3221A>G r.(?) p.(Asn1074Ser) Unknown - VUS g.124298141A>G g.123813594A>G DNAH10(NM_207437.3):c.3221A>G (p.N1074S) - DNAH10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3299A>G r.(?) p.(Asn1100Ser) Unknown - benign g.124298332A>G g.123813785A>G DNAH10(NM_207437.3):c.3299A>G (p.N1100S) - DNAH10_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3556G>A r.(?) p.(Glu1186Lys) Unknown - benign g.124303707G>A - DNAH10(NM_207437.3):c.3556G>A (p.E1186K) - DNAH10_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4405C>T r.(?) p.(Leu1469=) Unknown - benign g.124317874C>T g.123833327C>T DNAH10(NM_207437.3):c.4405C>T (p.L1469=) - DNAH10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4503G>A r.(?) p.(Pro1501=) Unknown - likely benign g.124320030G>A g.123835483G>A DNAH10(NM_207437.3):c.4503G>A (p.P1501=) - DNAH10_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4548+12G>A r.(=) p.(=) Unknown - benign g.124320087G>A g.123835540G>A DNAH10(NM_207437.3):c.4548+12G>A - DNAH10_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4552A>G r.(?) p.(Met1518Val) Unknown - benign g.124323006A>G g.123838459A>G DNAH10(NM_207437.3):c.4552A>G (p.M1518V) - DNAH10_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4557T>C r.(?) p.(Gly1519=) Unknown - benign g.124323011T>C g.123838464T>C DNAH10(NM_207437.3):c.4557T>C (p.G1519=) - DNAH10_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4575C>A r.(?) p.(Pro1525=) Unknown - benign g.124323029C>A g.123838482C>A DNAH10(NM_207437.3):c.4575C>A (p.P1525=) - DNAH10_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4627G>A r.(?) p.(Val1543Ile) Unknown - benign g.124323081G>A g.123838534G>A DNAH10(NM_207437.3):c.4627G>A (p.V1543I) - DNAH10_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4671C>T r.(?) p.(Tyr1557=) Unknown - benign g.124323125C>T - DNAH10(NM_207437.3):c.4671C>T (p.Y1557=) - DNAH10_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4891T>G r.(?) p.(Leu1631Val) Unknown - benign g.124325977T>G g.123841430T>G DNAH10(NM_207437.3):c.4891T>G (p.L1631V) - DNAH10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5006+19A>G r.(=) p.(=) Unknown - likely benign g.124326111A>G - DNAH10(NM_207437.3):c.5006+19A>G - DNAH10_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5049C>T r.(?) p.(Ala1683=) Unknown - benign g.124330189C>T g.123845642C>T DNAH10(NM_207437.3):c.5049C>T (p.A1683=) - DNAH10_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5099C>A r.(?) p.(Ala1700Glu) Unknown - VUS g.124330239C>A g.123845692C>A DNAH10(NM_207437.3):c.5099C>A (p.(Ala1700Glu)) - DNAH10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5171C>T r.(?) p.(Thr1724Met) Unknown - benign g.124330311C>T g.123845764C>T DNAH10(NM_207437.3):c.5171C>T (p.T1724M) - DNAH10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5291G>A r.(?) p.(Arg1764Gln) Unknown - benign g.124330532G>A g.123845985G>A DNAH10(NM_207437.3):c.5291G>A (p.R1764Q) - DNAH10_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5301C>A r.(?) p.(Asp1767Glu) Unknown - benign g.124330542C>A g.123845995C>A DNAH10(NM_207437.3):c.5301C>A (p.D1767E) - DNAH10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5366C>T r.(?) p.(Thr1789Met) Maternal (inferred) - VUS g.124330607C>T g.123846060C>T - - DNAH10_000002 - - - - Germline - - - - - DNA SEQ-NG blood - autism - - - M ? France - - - - - 1 Karine Poirier
-?/. - c.5382C>T r.(?) p.(Tyr1794=) Unknown - likely benign g.124330623C>T g.123846076C>T DNAH10(NM_207437.3):c.5382C>T (p.Y1794=) - DNAH10_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5508C>T r.(?) p.(Thr1836=) Unknown - likely benign g.124332555C>T - DNAH10(NM_207437.3):c.5508C>T (p.T1836=) - DNAH10_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5594G>A r.(?) p.(Arg1865Lys) Unknown - benign g.124332641G>A - DNAH10(NM_207437.3):c.5594G>A (p.R1865K) - DNAH10_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5670T>C r.(?) p.(Asp1890=) Unknown - benign g.124333351T>C - DNAH10(NM_207437.3):c.5670T>C (p.D1890=) - DNAH10_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5686G>A r.(?) p.(Val1896Met) Unknown - likely benign g.124333367G>A g.123848820G>A DNAH10(NM_207437.3):c.5686G>A (p.V1896M, p.(Val1896Met)) - DNAH10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5686G>A r.(?) p.(Val1896Met) Unknown - benign g.124333367G>A g.123848820G>A DNAH10(NM_207437.3):c.5686G>A (p.V1896M, p.(Val1896Met)) - DNAH10_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5938-20T>C r.(=) p.(=) Unknown - benign g.124337733T>C g.123853186T>C DNAH10(NM_207437.3):c.5938-20T>C - DNAH10_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5957C>T r.(?) p.(Thr1986Met) Unknown - benign g.124337772C>T g.123853225C>T DNAH10(NM_207437.3):c.5957C>T (p.T1986M) - DNAH10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5957C>T r.(?) p.(Thr1986Met) Parent #1 - benign g.124337772C>T g.123853225C>T - - DNAH10_000032 181 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33935373 Germline - 181/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 181 Mohammed Faruq
-/. - c.5957C>T r.(?) p.(Thr1986Met) Both (homozygous) - benign g.124337772C>T g.123853225C>T - - DNAH10_000032 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs33935373 Germline - 5/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.5966A>G r.(?) p.(Tyr1989Cys) Both (homozygous) - VUS g.124337781A>G g.123853234A>G - - DNAH10_000128 ACMG PM2, PP3 PubMed: Charng 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam048PatBAB6901 PubMed: Charng 2016 2-generation family, 1 affected (from twin pair), unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.6117G>C r.(?) p.(Met2039Ile) Unknown - VUS g.124341635G>C g.123857088G>C DNAH10(NM_207437.3):c.6117G>C (p.(Met2039Ile)) - DNAH10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6160G>A r.(?) p.(Gly2054Ser) Unknown - VUS g.124341678G>A g.123857131G>A DNAH10(NM_207437.3):c.6160G>A (p.G2054S) - DNAH10_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6222C>T r.(?) p.(Asn2074=) Unknown - likely benign g.124341740C>T - DNAH10(NM_207437.3):c.6222C>T (p.N2074=) - DNAH10_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6649G>C r.(?) p.(Glu2217Gln) Unknown - likely benign g.124349236G>C g.123864689G>C DNAH10(NM_001372106.1):c.7003G>C (p.(Glu2335Gln)), DNAH10(NM_207437.3):c.6649G>C (p.E2217Q) - DNAH10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6649G>C r.(?) p.(Glu2217Gln) Unknown - likely benign g.124349236G>C g.123864689G>C DNAH10(NM_001372106.1):c.7003G>C (p.(Glu2335Gln)), DNAH10(NM_207437.3):c.6649G>C (p.E2217Q) - DNAH10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7004T>A r.(?) p.(Leu2335His) Unknown - benign g.124352505T>A g.123867958T>A DNAH10(NM_207437.3):c.7004T>A (p.L2335H) - DNAH10_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7089C>T r.(?) p.(Asp2363=) Unknown - benign g.124352590C>T g.123868043C>T DNAH10(NM_207437.3):c.7089C>T (p.D2363=) - DNAH10_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7102C>T r.(?) p.(Arg2368Cys) Unknown - VUS g.124352603C>T g.123868056C>T DNAH10(NM_207437.3):c.7102C>T (p.R2368C) - DNAH10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7121C>T r.(?) p.(Thr2374Ile) Unknown - likely benign g.124352622C>T - DNAH10(NM_207437.3):c.7121C>T (p.T2374I) - DNAH10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7207C>T r.(?) p.(Arg2403Trp) Unknown - benign g.124354954C>T g.123870407C>T DNAH10(NM_207437.3):c.7207C>T (p.R2403W) - DNAH10_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7448A>G r.(?) p.(Asn2483Ser) Unknown - benign g.124358121A>G g.123873574A>G DNAH10(NM_207437.3):c.7448A>G (p.N2483S) - DNAH10_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7467G>A r.(?) p.(Thr2489=) Unknown - likely benign g.124358140G>A - DNAH10(NM_207437.3):c.7467G>A (p.T2489=) - DNAH10_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7527C>T r.(?) p.(Tyr2509=) Unknown - likely benign g.124358200C>T g.123873653C>T DNAH10(NM_207437.3):c.7527C>T (p.Y2509=) - DNAH10_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7547G>A r.(?) p.(Arg2516His) Unknown - benign g.124358220G>A - DNAH10(NM_207437.3):c.7547G>A (p.R2516H) - DNAH10_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7839C>T r.(?) p.(His2613=) Unknown - benign g.124360032C>T g.123875485C>T DNAH10(NM_207437.3):c.7839C>T (p.H2613=) - DNAH10_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7844C>T r.(?) p.(Ser2615Leu) Unknown - benign g.124360037C>T g.123875490C>T DNAH10(NM_207437.3):c.7844C>T (p.S2615L) - DNAH10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8205G>C r.(?) p.(Gln2735His) Unknown - VUS g.124364273G>C g.123879726G>C DNAH10(NM_207437.3):c.8205G>C (p.Q2735H) - DNAH10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8281-10_8281-9del r.(=) p.(=) Unknown - benign g.124366162_124366163del g.123881615_123881616del DNAH10(NM_207437.3):c.8281-10_8281-9delTT - DNAH10_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8281-9del r.(=) p.(=) Unknown - benign g.124366163del g.123881616del DNAH10(NM_207437.3):c.8281-9delT - DNAH10_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8281-9dup r.(=) p.(=) Unknown - VUS g.124366163dup - DNAH10(NM_001372106.1):c.8635-9dup - DNAH10_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8470-15G>T r.(=) p.(=) Unknown - likely benign g.124371674G>T g.123887127G>T DNAH10(NM_207437.3):c.8470-15G>T - DNAH10_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8470-5C>T r.spl? p.? Unknown - benign g.124371684C>T g.123887137C>T DNAH10(NM_207437.3):c.8470-5C>T - DNAH10_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8616G>A r.(?) p.(Glu2872=) Unknown - benign g.124371835G>A - DNAH10(NM_207437.3):c.8616G>A (p.E2872=) - DNAH10_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8676A>G r.(?) p.(Lys2892=) Unknown - benign g.124377814A>G g.123893267A>G DNAH10(NM_207437.3):c.8676A>G (p.K2892=) - DNAH10_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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