All variants in the DNAH1 gene

Information The variants shown are described using the NM_015512.4 transcript reference sequence.

166 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.77T>C r.(?) p.(Val26Ala) - VUS g.52356535T>C - DNAH1(NM_015512.5):c.77T>C (p.(Val26Ala)) - DNAH1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.492T>C r.(?) p.(Thr164=) - likely benign g.52360241T>C g.52326225T>C DNAH1(NM_015512.4):c.492T>C (p.T164=) - DNAH1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.732A>G r.(?) p.(Pro244=) - likely benign g.52360901A>G g.52326885A>G DNAH1(NM_015512.4):c.732A>G (p.P244=) - DNAH1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.888G>C r.(?) p.(Gln296His) - likely benign g.52365180G>C - DNAH1(NM_015512.4):c.888G>C (p.Q296H) - DNAH1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1087T>C r.(?) p.(Phe363Leu) - likely benign g.52366211T>C g.52332195T>C DNAH1(NM_015512.4):c.1087T>C (p.F363L) - DNAH1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1092C>A r.(?) p.(Cys364*) - pathogenic g.52366216C>A - - - DNAH1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1274G>T r.(?) p.(Arg425Leu) - likely benign g.52366398G>T - DNAH1(NM_015512.4):c.1274G>T (p.(Arg425Leu)) - DNAH1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1286+1G>A r.spl? p.? - pathogenic g.52366411G>A - - - DNAH1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1708C>A r.(?) p.(Arg570Ser) - VUS g.52380539C>A g.52346523C>A - - DNAH1_000056 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs184765148 Germline - 1/2793 individuals - - - Mohammed Faruq
?/. - c.1777A>G r.(?) p.(Met593Val) - VUS g.52380608A>G - DNAH1(NM_015512.4):c.1777A>G (p.M593V) - DNAH1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1912_1913insGG r.(?) p.(Asp638Glyfs*10) - likely pathogenic g.52380743_52380744insGG - DNAH1(NM_015512.5):c.1912_1913insGG (p.D638Gfs*10) - DNAH1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2127dup r.(?) p.(Ile710Hisfs*4) - pathogenic (recessive) g.52382924dup g.52348908dup 2127dupC - DNAH1_000012 - PubMed: Coutton 2018 - - Germline - 1/78 cases MMAF - - - Johan den Dunnen
-?/. - c.2204G>A r.(?) p.(Ser735Asn) - likely benign g.52383001G>A - DNAH1(NM_015512.4):c.2204G>A (p.S735N, p.(Ser735Asn)) - DNAH1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2204G>A r.(?) p.(Ser735Asn) - likely benign g.52383001G>A - DNAH1(NM_015512.4):c.2204G>A (p.S735N, p.(Ser735Asn)) - DNAH1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2565T>G r.(?) p.(Tyr855*) - VUS g.52384043T>G - DNAH1(NM_015512.4):c.2565T>G (p.(Tyr855*)) - DNAH1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2576A>G r.(?) p.(Asn859Ser) - VUS g.52384054A>G - DNAH1(NM_015512.5):c.2576A>G (p.(Asn859Ser)) - DNAH1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2651G>A r.(?) p.(Arg884Gln) - likely benign g.52384528G>A - DNAH1(NM_015512.5):c.2651G>A (p.(Arg884Gln)) - DNAH1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2717A>G r.(?) p.(Asp906Gly) - likely benign g.52384594A>G - DNAH1(NM_015512.4):c.2717A>G (p.D906G) - DNAH1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2996G>A r.(?) p.(Arg999His) - VUS g.52386692G>A - DNAH1(NM_015512.4):c.2996G>A (p.R999H) - DNAH1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3038_3041dup r.(?) p.(Arg1015LeufsTer19) - likely pathogenic g.52387129_52387132dup g.52353113_52353116dup DNAH1(NM_015512.4):c.3038_3041dupTCTC (p.R1015Lfs*19), DNAH1(NM_015512.5):c.3038_3041dupTCTC (p.R1015Lfs*19) - DNAH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.3038_3041dup r.(?) p.(Arg1015LeufsTer19) - pathogenic g.52387129_52387132dup - DNAH1(NM_015512.4):c.3038_3041dupTCTC (p.R1015Lfs*19), DNAH1(NM_015512.5):c.3038_3041dupTCTC (p.R1015Lfs*19) - DNAH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3099G>C r.(?) p.(Trp1033Cys) - VUS g.52387190G>C g.52353174G>C DNAH1(NM_015512.4):c.3099G>C (p.(Trp1033Cys)) - DNAH1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3110C>T r.(?) p.(Ser1037Leu) - VUS g.52387201C>T - DNAH1(NM_015512.4):c.3110C>T (p.S1037L) - DNAH1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3111G>A r.(?) p.(Ser1037=) - likely benign g.52387202G>A g.52353186G>A DNAH1(NM_015512.4):c.3111G>A (p.S1037=) - DNAH1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3431_3432delinsAT r.(?) p.(Ser1144Asn) - VUS g.52387600_52387601delinsAT - DNAH1(NM_015512.5):c.3431_3432delinsAT (p.(Ser1144Asn)) - DNAH1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3555C>T r.(?) p.(Tyr1185=) - likely benign g.52388933C>T - DNAH1(NM_015512.4):c.3555C>T (p.Y1185=) - DNAH1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3569C>T r.(?) p.(Pro1190Leu) - VUS g.52388947C>T - DNAH1(NM_015512.4):c.3569C>T (p.P1190L) - DNAH1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3655C>T r.(?) p.(Arg1219Cys) - VUS g.52389033C>T g.52355017C>T DNAH1(NM_015512.4):c.3655C>T (p.R1219C) - DNAH1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3877G>A r.(?) p.(Asp1293Asn) - likely benign g.52391648G>A g.52357632G>A DNAH1(NM_015512.4):c.3877G>A (p.(Asp1293Asn)) - DNAH1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3877G>A r.(?) p.(Asp1293Asn) - VUS g.52391648G>A - DNAH1(NM_015512.4):c.3877G>A (p.(Asp1293Asn)) - DNAH1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3901C>T r.(?) p.(Arg1301Trp) - VUS g.52391672C>T g.52357656C>T DNAH1(NM_015512.4):c.3901C>T (p.R1301W) - DNAH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.3931C>T r.(?) p.(Gln1311*) - pathogenic (recessive) g.52391702C>T g.52357686C>T - - DNAH1_000016 - PubMed: Coutton 2018 - - Germline - 1/78 cases MMAF - - - Johan den Dunnen
-?/. - c.4026G>C r.(?) p.(Gln1342His) - likely benign g.52391959G>C g.52357943G>C DNAH1(NM_015512.4):c.4026G>C (p.(Gln1342His)) - DNAH1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4080C>G r.(?) p.(Ile1360Met) - VUS g.52392013C>G - DNAH1(NM_015512.4):c.4080C>G (p.I1360M) - DNAH1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4092A>G r.(?) p.(Leu1364=) - likely benign g.52392579A>G g.52358563A>G DNAH1(NM_015512.4):c.4092A>G (p.L1364=) - DNAH1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4108G>A r.(?) p.(Glu1370Lys) - likely benign g.52392595G>A g.52358579G>A DNAH1(NM_015512.4):c.4108G>A (p.E1370K) - DNAH1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4457G>A r.(?) p.(Arg1486Gln) - VUS g.52393981G>A - DNAH1(NM_015512.5):c.4457G>A (p.(Arg1486Gln)) - DNAH1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.4531G>A r.(?) p.(Val1511Met) - pathogenic (recessive) g.52394055G>A g.52360039G>A - - DNAH1_000021 - PubMed: Coutton 2018 - - Germline - 1/78 cases MMAF - - - Johan den Dunnen
-/. - c.4531G>A r.(?) p.(Val1511Met) - benign g.52394055G>A g.52360039G>A - - DNAH1_000021 38 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61734638 Germline - 38/2795 individuals - - - Mohammed Faruq
-/. - c.4531G>A r.(?) p.(Val1511Met) - benign g.52394055G>A g.52360039G>A - - DNAH1_000021 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61734638 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - c.4593C>T r.(?) p.(Asp1531=) - likely benign g.52394348C>T - DNAH1(NM_015512.4):c.4593C>T (p.D1531=) - DNAH1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4609G>A r.(?) p.(Val1537Met) - VUS g.52394364G>A g.52360348G>A - - DNAH1_000108 - PubMed: Alsamri 2021 - rs768532151 Germline - - - - - Johan den Dunnen
+/. - c.4642C>G r.(?) p.(Leu1548Val) - pathogenic (recessive) g.52394397C>G g.52360381C>G - - DNAH1_000022 - PubMed: Coutton 2018 - - Germline - 1/78 cases MMAF - - - Johan den Dunnen
+/. - c.4744_4752del r.(?) p.(Pro1582_Gly1584del) - pathogenic (recessive) g.52395238_52395246del g.52361222_52361230del 4744_4752delCCAGCTGGC - DNAH1_000013 - PubMed: Coutton 2018 - - Germline - 1/78 cases MMAF - - - Johan den Dunnen
+/. - c.4983G>A r.(?) p.(Val1661=) - pathogenic (recessive) g.52396406G>A g.52362390G>A Val1661= - DNAH1_000018 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases MMAF - - - Johan den Dunnen
-/. - c.4987C>T r.(?) p.(Arg1663Cys) - benign g.52396410C>T g.52362394C>T - - DNAH1_000057 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17052097 Germline - 20/2795 individuals - - - Mohammed Faruq
-?/. - c.4987C>T r.(?) p.(Arg1663Cys) - likely benign g.52396410C>T - DNAH1(NM_015512.5):c.4987C>T (p.(Arg1663Cys)) - DNAH1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.5504T>C r.(?) p.(Leu1835Pro) - VUS g.52399021T>C - DNAH1(NM_015512.4):c.5504T>C (p.L1835P) - DNAH1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5531A>G r.(?) p.(Lys1844Arg) - VUS g.52400485A>G g.52366469A>G DNAH1(NM_015512.4):c.5531A>G (p.(Lys1844Arg)) - DNAH1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5568C>T r.(?) p.(His1856=) - likely benign g.52400522C>T g.52366506C>T DNAH1(NM_015512.4):c.5568C>T (p.H1856=) - DNAH1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6313C>G r.(?) p.(Pro2105Ala) - VUS g.52404547C>G g.52370531C>G DNAH1(NM_015512.4):c.6313C>G (p.P2105A) - DNAH1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.6650T>C r.(?) p.(Leu2217Pro) - VUS g.52406086T>C - - - DNAH1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.6775C>T r.(?) p.(Arg2259Cys) - VUS g.52406351C>T - DNAH1(NM_015512.5):c.6775C>T (p.R2259C) - DNAH1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.6970G>A r.(?) p.(Asp2324Asn) - VUS g.52407054G>A g.52373038G>A DNAH1(NM_015512.4):c.6970G>A (p.D2324N) - DNAH1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7037C>T r.(?) p.(Pro2346Leu) - VUS g.52409307C>T g.52375291C>T DNAH1(NM_015512.4):c.7037C>T (p.(Pro2346Leu)) - DNAH1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.7074dup r.(?) p.(Arg2359Alafs*10) - likely pathogenic g.52409344dup - DNAH1(NM_015512.5):c.7074dupG (p.R2359Afs*10) - DNAH1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.7143C>G r.(?) p.(Ile2381Met) - likely benign g.52409413C>G g.52375397C>G DNAH1(NM_015512.4):c.7143C>G (p.(Ile2381Met)) - DNAH1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.7153T>A r.(?) p.(Trp2385Arg) - pathogenic (recessive) g.52409423T>A g.52375407T>A - - DNAH1_000014 - PubMed: Coutton 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.7193G>A r.(?) p.(Arg2398His) - likely benign g.52410004G>A - DNAH1(NM_015512.4):c.7193G>A (p.R2398H) - DNAH1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7238T>C r.(?) p.(Val2413Ala) - VUS g.52412657T>C g.52378641T>C - - DNAH1_000109 - PubMed: Alsamri 2021 - rs1164570685 Germline - - - - - Johan den Dunnen
?/. - c.7345G>A r.(?) p.(Gly2449Ser) - VUS g.52412764G>A - DNAH1(NM_015512.4):c.7345G>A (p.G2449S) - DNAH1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7375G>A r.(?) p.(Glu2459Lys) - likely benign g.52412794G>A - DNAH1(NM_015512.5):c.7375G>A (p.(Glu2459Lys)) - DNAH1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.7484G>A r.(?) p.(Arg2495His) - likely benign g.52414027G>A - DNAH1(NM_015512.4):c.7484G>A (p.R2495H), DNAH1(NM_015512.5):c.7484G>A (p.(Arg2495His)) - DNAH1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7484G>A r.(?) p.(Arg2495His) - VUS g.52414027G>A - DNAH1(NM_015512.4):c.7484G>A (p.R2495H), DNAH1(NM_015512.5):c.7484G>A (p.(Arg2495His)) - DNAH1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.7531del r.(?) p.(Gln2511Serfs*27) - pathogenic (recessive) g.52414074del g.52380058del 7531delC - DNAH1_000011 - PubMed: Coutton 2018 - - Germline - 1/78 cases MMAF - - - Johan den Dunnen
-/. - c.7569C>T r.(=) p.(=) - benign g.52414112C>T g.52380096C>T - - DNAH1_000058 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73072968 Germline - 8/2791 individuals - - - Mohammed Faruq
?/. - c.7742A>G r.(?) p.(Asn2581Ser) - VUS g.52415789A>G - DNAH1(NM_015512.5):c.7742A>G (p.N2581S) - DNAH1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.7759G>A r.(?) p.(Val2587Met) - VUS g.52415806G>A g.52381790G>A DNAH1(NM_015512.5):c.7759G>A (p.V2587M) - DNAH1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.8566A>G r.(?) p.(Met2856Val) - VUS g.52419404A>G - DNAH1(NM_015512.4):c.8566A>G (p.M2856V) - DNAH1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.8626-1G>A r.spl p.? - pathogenic (recessive) g.52420175G>A g.52386159G>A - - DNAH1_000020 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 2/167 cases MMAF - - - Johan den Dunnen
+/. - c.8626-1G>A r.spl p.? - pathogenic (recessive) g.52420175G>A g.52386159G>A - - DNAH1_000020 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 2/167 cases MMAF - - - Johan den Dunnen
?/. - c.8672_8673del r.(?) p.(Glu2891Glyfs*6) - VUS g.52420222_52420223del - DNAH1(NM_015512.5):c.8672_8673delAG (p.E2891Gfs*6) - DNAH1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.8765C>T r.(?) p.(Ala2922Val) - likely benign g.52420315C>T g.52386299C>T DNAH1(NM_015512.4):c.8765C>T (p.A2922V, p.(Ala2922Val)) - DNAH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.8765C>T r.(?) p.(Ala2922Val) - VUS g.52420315C>T g.52386299C>T DNAH1(NM_015512.4):c.8765C>T (p.A2922V, p.(Ala2922Val)) - DNAH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.8765C>T r.(?) p.(Ala2922Val) - benign g.52420315C>T g.52386299C>T - - DNAH1_000009 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs182141515 Germline - 7/2795 individuals - - - Mohammed Faruq
?/. - c.8854A>C r.(?) p.(Ile2952Leu) - VUS g.52420720A>C g.52386704A>C - - DNAH1_000055 - - - - Germline - - - - - Nada Al Tassan
?/. - c.9157G>T r.(?) p.(Val3053Leu) - VUS g.52422336G>T - DNAH1(NM_015512.5):c.9157G>T (p.V3053L) - DNAH1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.9278C>G r.(?) p.(Ala3093Gly) - VUS g.52422540C>G g.52388524C>G DNAH1(NM_015512.5):c.9278C>G (p.A3093G) - DNAH1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.9505C>G r.(?) p.(Arg3169Gly) - pathogenic (recessive) g.52423486C>G g.52389470C>G - - DNAH1_000015 - PubMed: Coutton 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.9567del r.(?) p.(Glu3190Serfs*4) - pathogenic (recessive) g.52423548del g.52389532del 9567delT - DNAH1_000017 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases MMAF - - - Johan den Dunnen
+/. - c.9621+1G>C r.spl p.? - pathogenic (recessive) g.52423603G>C g.52389587G>C - - DNAH1_000019 - PubMed: Coutton 2019, Journal: Coutton 2019 - - Germline - 1/167 cases MMAF - - - Johan den Dunnen
?/. - c.9646C>G r.(?) p.(Leu3216Val) - VUS g.52424975C>G g.52390959C>G DNAH1(NM_015512.4):c.9646C>G (p.L3216V), DNAH1(NM_015512.5):c.9646C>G (p.(Leu3216Val), p.L3216V) - DNAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.9646C>G r.(?) p.(Leu3216Val) - VUS g.52424975C>G - DNAH1(NM_015512.4):c.9646C>G (p.L3216V), DNAH1(NM_015512.5):c.9646C>G (p.(Leu3216Val), p.L3216V) - DNAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.9646C>G r.(?) p.(Leu3216Val) - VUS g.52424975C>G - DNAH1(NM_015512.4):c.9646C>G (p.L3216V), DNAH1(NM_015512.5):c.9646C>G (p.(Leu3216Val), p.L3216V) - DNAH1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.10083A>G r.(?) p.(Val3361=) - likely benign g.52426510A>G - DNAH1(NM_015512.4):c.10083A>G (p.V3361=) - DNAH1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.10101C>T r.(?) p.(Pro3367=) - likely benign g.52426528C>T - DNAH1(NM_015512.4):c.10101C>T (p.P3367=) - DNAH1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.10212C>A r.(?) p.(Asn3404Lys) - VUS g.52426639C>A - DNAH1(NM_015512.4):c.10212C>A (p.N3404K) - DNAH1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.10438A>G r.(?) p.(Ile3480Val) - VUS g.52427005A>G g.52392989A>G - - DNAH1_000059 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143443167 Germline - 1/2795 individuals - - - Mohammed Faruq
-?/. - c.10645C>T r.(?) p.(Leu3549=) - likely benign g.52428499C>T g.52394483C>T DNAH1(NM_015512.4):c.10645C>T (p.L3549=) - DNAH1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.10895G>A r.(?) p.(Arg3632His) - likely benign g.52429002G>A g.52394986G>A DNAH1(NM_015512.4):c.10895G>A (p.(Arg3632His)) - DNAH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.10915G>A r.(?) p.(Ala3639Thr) - likely benign g.52429022G>A g.52395006G>A - - DNAH1_000060 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138940904 Germline - 1/2793 individuals - - - Mohammed Faruq
?/. - c.11012C>T r.(?) p.(Thr3671Ile) - VUS g.52429367C>T - DNAH1(NM_015512.5):c.11012C>T (p.T3671I) - DNAH1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.11063A>G r.(?) p.(Tyr3688Cys) - VUS g.52429418A>G g.52395402A>G - - DNAH1_000110 - PubMed: Alsamri 2021 - rs369995851 Germline - - - - - Johan den Dunnen
-/. - c.11230C>T r.(?) p.(Arg3744Cys) - benign g.52429665C>T g.52395649C>T - - DNAH1_000061 107 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs419752 Germline - 107/2795 individuals - - - Mohammed Faruq
?/. - c.11276G>A r.(?) p.(Arg3759His) - VUS g.52430400G>A - DNAH1(NM_015512.5):c.11276G>A (p.R3759H) - DNAH1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.11362G>A r.(?) p.(Gly3788Ser) - VUS g.52430486G>A g.52396470G>A DNAH1(NM_015512.4):c.11362G>A (p.(Gly3788Ser)) - DNAH1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.11647G>A r.(?) p.(Gly3883Ser) - VUS g.52430920G>A g.52396904G>A DNAH1(NM_015512.4):c.11647G>A (p.G3883S) - DNAH1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.11726_11727del r.(?) p.(Pro3909Argfs*33) - pathogenic (recessive) g.52430999_52431000del g.52396983_52396984del 11726_11727delCT - DNAH1_000082 - - - - Germline - - - - - Johan den Dunnen
?/. - c.11798C>T r.(?) p.(Ser3933Phe) - VUS g.52431733C>T - DNAH1(NM_015512.5):c.11798C>T (p.S3933F) - DNAH1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*1398G>A r.(=) p.(=) - benign g.52435860G>A - - - DNAH1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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