All variants in the DNHD1 gene

Information The variants shown are described using the NM_144666.2 transcript reference sequence.

106 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.-529+9T>C r.(=) p.(=) - likely benign g.6518570T>C g.6497340T>C DNHD1(NM_144666.2):c.-529+9T>C - DNHD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.85T>C r.(?) p.(Leu29=) - likely benign g.6519530T>C g.6498300T>C DNHD1(NM_144666.2):c.85T>C (p.L29=) - DNHD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.425_428del r.(?) p.(Asp142ValfsTer35) - pathogenic (recessive) g.6519870_6519873del g.6498640_6498643del - - DNHD1_000073 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
-?/. - c.480C>T r.(?) p.(Pro160=) - likely benign g.6519925C>T g.6498695C>T DNHD1(NM_144666.2):c.480C>T (p.P160=) - DNHD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.497C>G r.(?) p.(Pro166Arg) - VUS g.6519942C>G - DNHD1(NM_144666.2):c.497C>G (p.(Pro166Arg)) - DNHD1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.522_525del r.(?) p.(Arg174SerfsTer3) - pathogenic (recessive) g.6519967_6519970del g.6498737_6498740del - - DNHD1_000074 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.556C>T r.(?) p.(Arg186*) - VUS g.6520001C>T - DNHD1(NM_144666.2):c.556C>T (p.R186*) - DNHD1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.746+1G>T r.spl? p.? - pathogenic g.6520192G>T g.6498962G>T - - DNHD1_000003 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-/. - c.890A>G r.(?) p.(Tyr297Cys) - benign g.6524126A>G g.6502896A>G DNHD1(NM_144666.2):c.890A>G (p.Y297C) - DNHD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.898G>A r.(?) p.(Val300Met) - VUS g.6524134G>A - DNHD1(NM_144666.2):c.898G>A (p.V300M) - DNHD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.911G>A r.(?) p.(Arg304Gln) - pathogenic (recessive) g.6524147G>A g.6502917G>A - - DNHD1_000075 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.1292A>G r.(?) p.(Tyr431Cys) - VUS g.6532559A>G - DNHD1(NM_144666.2):c.1292A>G (p.Y431C) - DNHD1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1345C>T r.(?) p.(Arg449Trp) - VUS g.6532612C>T - DNHD1(NM_144666.2):c.1345C>T (p.R449W) - DNHD1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1348C>T r.(?) p.(Leu450=) - VUS g.6532615C>T - DNHD1(NM_144666.2):c.1348C>T (p.L450=) - DNHD1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1387C>T r.(?) p.(Arg463*) - VUS g.6532654C>T - DNHD1(NM_144666.2):c.1387C>T (p.R463*) - DNHD1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1606_1611del r.(?) p.(Leu536_Glu537del) - VUS g.6541043_6541048del - DNHD1(NM_144666.2):c.1606_1611delTTGGAA (p.L536_E537del) - DNHD1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1903G>A r.(?) p.(Asp635Asn) - VUS g.6549817G>A - DNHD1(NM_144666.2):c.1903G>A (p.D635N) - DNHD1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1938A>T r.(?) p.(Gly646=) - likely benign g.6549852A>T g.6528622A>T DNHD1(NM_144666.2):c.1938A>T (p.G646=) - DNHD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2027A>G r.(?) p.(Tyr676Cys) - VUS g.6549941A>G g.6528711A>G DNHD1(NM_144666.2):c.2027A>G (p.Y676C) - DNHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2085A>G r.(?) p.(Ile695Met) - likely benign g.6549999A>G - DNHD1(NM_144666.2):c.2085A>G (p.I695M) - DNHD1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2089C>G r.(?) p.(Gln697Glu) - likely benign g.6550003C>G - DNHD1(NM_144666.2):c.2089C>G (p.(Gln697Glu)) - DNHD1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2394A>G r.(?) p.(Gln798=) - likely benign g.6554303A>G g.6533073A>G DNHD1(NM_144666.2):c.2394A>G (p.Q798=) - DNHD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2545C>T r.(?) p.(Arg849Ter) - VUS g.6554950C>T g.6533720C>T DNHD1(NM_144666.2):c.2545C>T (p.(Arg849Ter)) - DNHD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2561G>A r.(?) p.(Arg854Gln) - benign g.6554966G>A g.6533736G>A DNHD1(NM_144666.2):c.2561G>A (p.R854Q) - DNHD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2581C>T r.(?) p.(Arg861Cys) - VUS g.6554986C>T g.6533756C>T DNHD1(NM_144666.2):c.2581C>T (p.R861C) - DNHD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2839G>T r.(?) p.(Glu947*) - VUS g.6555244G>T - DNHD1(NM_144666.2):c.2839G>T (p.E947*) - DNHD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2909C>A r.(?) p.(Thr970Asn) - VUS g.6555314C>A - DNHD1(NM_144666.2):c.2909C>A (p.(Thr970Asn)) - DNHD1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3233G>A r.(?) p.(Arg1078His) - likely benign g.6559948G>A - DNHD1(NM_144666.2):c.3233G>A (p.R1078H) - DNHD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3323G>A r.(?) p.(Arg1108His) - VUS g.6560038G>A g.6538808G>A DNHD1(NM_144666.2):c.3323G>A (p.R1108H) - DNHD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3365C>T r.(?) p.(Thr1122Met) - VUS g.6560488C>T - DNHD1(NM_144666.2):c.3365C>T (p.T1122M) - DNHD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3492G>A r.(?) p.(Ala1164=) - likely benign g.6561177G>A g.6539947G>A DNHD1(NM_144666.2):c.3492G>A (p.A1164=) - DNHD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3523dup r.(?) p.(His1175ProfsTer29) - VUS g.6561208dup g.6539978dup DNHD1(NM_144666.2):c.3523dupC (p.H1175Pfs*29) - DNHD1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3534C>T r.(?) p.(Tyr1178=) - likely benign g.6561219C>T g.6539989C>T DNHD1(NM_144666.2):c.3534C>T (p.Y1178=) - DNHD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3740T>C r.(?) p.(Ile1247Thr) - likely benign g.6565462T>C - DNHD1(NM_144666.2):c.3740T>C (p.(Ile1247Thr)) - DNHD1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4041C>T r.(?) p.(Ser1347=) - likely benign g.6566210C>T - DNHD1(NM_144666.2):c.4041C>T (p.S1347=) - DNHD1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.4072C>T r.(?) p.(Arg1358Cys) - pathogenic (recessive) g.6566241C>T g.6545011C>T - - DNHD1_000076 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
+/. - c.4141C>T r.(?) p.(Gln1381Ter) - pathogenic (recessive) g.6566310C>T g.6545080C>T - - DNHD1_000077 - PubMed: Zhang 2015 - - Germline - - - - - Johan den Dunnen
+?/. - c.4510C>T r.(?) p.(Gln1504*) - likely pathogenic g.6566679C>T - DNHD1(NM_144666.2):c.4510C>T (p.(Gln1504*)) - DNHD1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4654G>T r.(?) p.(Ala1552Ser) - likely benign g.6566823G>T g.6545593G>T DNHD1(NM_144666.2):c.4654G>T (p.A1552S) - DNHD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4767A>C r.(?) p.(Glu1589Asp) - VUS g.6566936A>C g.6545706A>C DNHD1(NM_144666.2):c.4767A>C (p.E1589D) - DNHD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.5264G>A r.(?) p.(Arg1755His) - benign g.6567433G>A g.6546203G>A DNHD1(NM_144666.2):c.5264G>A (p.R1755H) - DNHD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.5347del r.(?) p.(Gln1783SerfsTer28) - pathogenic (recessive) g.6567516del g.6546286del 5347delC - DNHD1_000078 - PubMed: Zhang 2015 - - Germline - - - - - Johan den Dunnen
+/. - c.5560C>T r.(?) p.(Arg1854Cys) - pathogenic (recessive) g.6567729C>T g.6546499C>T - - DNHD1_000079 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
-?/. - c.5617C>A r.(?) p.(Arg1873Ser) - likely benign g.6567786C>A - DNHD1(NM_144666.2):c.5617C>A (p.(Arg1873Ser)) - DNHD1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.5676G>C r.(?) p.(Lys1892Asn) - VUS g.6567845G>C g.6546615G>C DNHD1(NM_144666.2):c.5676G>C (p.K1892N) - DNHD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5839A>G r.(?) p.(Met1947Val) - likely benign g.6568008A>G - DNHD1(NM_144666.2):c.5839A>G (p.M1947V) - DNHD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5989G>A r.(?) p.(Gly1997Ser) - VUS g.6568158G>A - DNHD1(NM_144666.2):c.5989G>A (p.G1997S) - DNHD1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6064G>C r.(?) p.(Gly2022Arg) - likely benign g.6568233G>C - DNHD1(NM_144666.2):c.6064G>C (p.(Gly2022Arg)) - DNHD1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.6109A>G r.(?) p.(Ser2037Gly) - VUS g.6568278A>G g.6547048A>G - - DNHD1_000017 - - - - Germline ? - - - - Isabel Filges
?/. - c.6395C>T r.(?) p.(Thr2132Ile) - VUS g.6568564C>T g.6547334C>T DNHD1(NM_144666.2):c.6395C>T (p.T2132I) - DNHD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.6498T>G r.(?) p.(Tyr2166Ter) - pathogenic (recessive) g.6568667T>G g.6547437T>G - - DNHD1_000080 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.6616G>A r.(?) p.(Gly2206Arg) - VUS g.6568785G>A g.6547555G>A DNHD1(NM_144666.2):c.6616G>A (p.G2206R, p.(Gly2206Arg)) - DNHD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6616G>A r.(?) p.(Gly2206Arg) - likely benign g.6568785G>A g.6547555G>A DNHD1(NM_144666.2):c.6616G>A (p.G2206R, p.(Gly2206Arg)) - DNHD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.6617G>A r.(?) p.(Gly2206Glu) - VUS g.6568786G>A g.6547556G>A DNHD1(NM_144666.2):c.6617G>A (p.G2206E, p.(Gly2206Glu)) - DNHD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.6617G>A r.(?) p.(Gly2206Glu) - likely benign g.6568786G>A g.6547556G>A DNHD1(NM_144666.2):c.6617G>A (p.G2206E, p.(Gly2206Glu)) - DNHD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.6618G>A r.(?) p.(Gly2206=) - likely benign g.6568787G>A g.6547557G>A DNHD1(NM_144666.2):c.6618G>A (p.(=)) - DNHD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.6681G>C r.(?) p.(Leu2227=) - likely benign g.6568850G>C - DNHD1(NM_144666.2):c.6681G>C (p.L2227=) - DNHD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.6697C>T r.(?) p.(Arg2233Cys) - benign g.6568866C>T g.6547636C>T DNHD1(NM_144666.2):c.6697C>T (p.(Arg2233Cys)) - DNHD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.6971C>T r.(?) p.(Pro2324Leu) - likely benign g.6569505C>T g.6548275C>T DNHD1(NM_144666.2):c.6971C>T (p.P2324L) - DNHD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7372C>T r.(?) p.(His2458Tyr) - VUS g.6570148C>T g.6548918C>T DNHD1(NM_144666.2):c.7372C>T (p.H2458Y) - DNHD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.7387+3621T>C r.(=) p.(=) - VUS g.6573784T>C g.6552554T>C - - DNHD1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.7387+3737A>G r.(=) p.(=) - VUS g.6573900A>G g.6552670A>G - - DNHD1_000002 - - - - Germline - - - - - Yu Sun
?/. - c.7387+3737A>G r.(=) p.(=) - VUS g.6573900A>G g.6552670A>G - - DNHD1_000002 - - - - Germline - - - - - Yu Sun
+?/. - c.7818C>T r.(?) p.(Asn2606=) - likely pathogenic g.6578343C>T g.6557113C>T DNHD1(NM_144666.2):c.7818C>T (p.(=)) - DNHD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.7888C>T r.(?) p.(Arg2630Ter) - VUS g.6578413C>T g.6557183C>T DNHD1(NM_144666.2):c.7888C>T (p.R2630*) - DNHD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.8116C>A r.(?) p.(Pro2706Thr) - likely benign g.6578641C>A - DNHD1(NM_144666.2):c.8116C>A (p.P2706T) - DNHD1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.8319C>G r.(?) p.(Gly2773=) - likely benign g.6578844C>G g.6557614C>G DNHD1(NM_144666.2):c.8319C>G (p.G2773=) - DNHD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.8782C>T r.(?) p.(Arg2928Ter) - VUS g.6579307C>T g.6558077C>T DNHD1(NM_144666.2):c.8782C>T (p.R2928*) - DNHD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.8782C>T r.(?) p.(Arg2928Ter) - pathogenic (recessive) g.6579307C>T g.6558077C>T - - DNHD1_000034 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.8881G>A r.(?) p.(Ala2961Thr) - VUS g.6579406G>A - DNHD1(NM_144666.2):c.8881G>A (p.(Ala2961Thr)) - DNHD1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.8904C>A r.(?) p.(Gly2968=) - likely benign g.6579429C>A g.6558199C>A DNHD1(NM_144666.2):c.8904C>A (p.G2968=) - DNHD1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.8909A>G r.(?) p.(Tyr2970Cys) - pathogenic (recessive) g.6579434A>G g.6558204A>G - - DNHD1_000081 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.8971C>T r.(?) p.(Gln2991*) - VUS g.6579496C>T - DNHD1(NM_144666.2):c.8971C>T (p.(Gln2991*)) - DNHD1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.9649C>T r.(?) p.(Arg3217Ter) - pathogenic (recessive) g.6584341C>T g.6563111C>T - - DNHD1_000082 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.9724G>C r.(?) p.(Glu3242Gln) - VUS g.6584666G>C g.6563436G>C DNHD1(NM_144666.2):c.9724G>C (p.E3242Q) - DNHD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.9740G>C r.(?) p.(Arg3247Pro) - VUS g.6584682G>C g.6563452G>C DNHD1(NM_144666.2):c.9740G>C (p.R3247P) - DNHD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.10078G>T r.(?) p.(Glu3360*) - VUS g.6585148G>T - DNHD1(NM_144666.2):c.10078G>T (p.E3360*) - DNHD1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.10153G>A r.(?) p.(Val3385Met) - likely benign g.6585223G>A - DNHD1(NM_144666.2):c.10153G>A (p.(Val3385Met)) - DNHD1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.10261C>T r.(?) p.(Arg3421Cys) - VUS g.6585331C>T g.6564101C>T DNHD1(NM_144666.2):c.10261C>T (p.R3421C) - DNHD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.10348T>C r.(?) p.(Tyr3450His) - VUS g.6585626T>C - DNHD1(NM_144666.2):c.10348T>C (p.(Tyr3450His)) - DNHD1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.10624C>T r.(?) p.(Arg3542*) - VUS g.6585902C>T - DNHD1(NM_144666.2):c.10624C>T (p.(Arg3542*)) - DNHD1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.10704G>A r.(?) p.(Pro3568=) - likely benign g.6585982G>A - DNHD1(NM_144666.2):c.10704G>A (p.P3568=) - DNHD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.10723C>T r.(?) p.(Arg3575*) - VUS g.6586001C>T - DNHD1(NM_144666.2):c.10723C>T (p.R3575*) - DNHD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.11207-9_11207del r.spl? p.? - likely pathogenic g.6587808_6587817del - DNHD1(NM_144666.2):c.11207-9_11207delTACCCCAAGT (p.(Val3736fs)) - DNHD1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.11207-2A>G r.spl? p.? - VUS g.6587815A>G g.6566585A>G DNHD1(NM_144666.2):c.11207-2A>G - DNHD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.11622C>T r.(?) p.(Phe3874=) - likely benign g.6588361C>T - DNHD1(NM_144666.2):c.11622C>T (p.F3874=) - DNHD1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.11894C>T r.(?) p.(Pro3965Leu) - VUS g.6588633C>T g.6567403C>T DNHD1(NM_144666.2):c.11894C>T (p.P3965L) - DNHD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.12142C>T r.(?) p.(Arg4048*) - VUS g.6588881C>T - - - DNHD1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.12347dup r.(?) p.(Gln4117Alafs*14) - pathogenic g.6589086dup g.6567856dup - - DNHD1_000016 - PubMed: Anazi 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.12355C>T r.(?) p.(Gln4119Ter) - VUS g.6589289C>T g.6568059C>T DNHD1(NM_144666.2):c.12355C>T (p.Q4119*) - DNHD1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.12453G>A r.(?) p.(Trp4151Ter) - pathogenic (recessive) g.6589387G>A g.6568157G>A - - DNHD1_000083 - PubMed: Tan 2022 - - Germline - - - - - Johan den Dunnen
+/. - c.12473A>G r.(?) p.(His4158Arg) - pathogenic (recessive) g.6589407A>G g.6568177A>G - - DNHD1_000084 - PubMed: Zhang 2015 - - Germline - - - - - Johan den Dunnen
?/. - c.12491C>T r.(?) p.(Pro4164Leu) - VUS g.6589425C>T g.6568195C>T DNHD1(NM_144666.2):c.12491C>T (p.P4164L) - DNHD1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.12539-1G>A r.spl? p.? - VUS g.6589683G>A g.6568453G>A DNHD1(NM_144666.2):c.12539-1G>A (p.?) - DNHD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.12684G>A r.(?) p.(Met4228Ile) - likely benign g.6589917G>A - DNHD1(NM_144666.2):c.12684G>A (p.M4228I) - DNHD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.12728T>C r.(?) p.(Ile4243Thr) - VUS g.6589961T>C - DNHD1(NM_144666.2):c.12728T>C (p.I4243T) - DNHD1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.12885G>A r.(?) p.(Gln4295=) - likely benign g.6591260G>A g.6570030G>A DNHD1(NM_144666.2):c.12885G>A (p.Q4295=) - DNHD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.12931del r.(?) p.(Arg4311ValfsTer26) - VUS g.6591306del - DNHD1(NM_144666.2):c.12931delC (p.R4311Vfs*26) - DNHD1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.13172A>C r.(?) p.(Glu4391Ala) - VUS g.6591914A>C - DNHD1(NM_144666.2):c.13172A>C (p.(Glu4391Ala)) - DNHD1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.13611G>A r.(?) p.(Trp4537Ter) - VUS g.6592353G>A g.6571123G>A DNHD1(NM_144666.2):c.13611G>A (p.(Trp4537Ter)) - DNHD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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