All variants in the ACAD11 gene

Information The variants shown are described using the NM_032169.4 transcript reference sequence.

196 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-62673A>G r.(?) p.(=) - benign g.132441268T>C g.132722424T>C NPHP3(NM_153240.5):c.-69A>G, NPHP3-ACAD11(NR_037804.1):n.36A>G - NPHP3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-62548G>C r.(?) p.(=) - likely benign g.132441143C>G g.132722299C>G NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=)) - ACAD11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-62548G>C r.(?) p.(=) - likely benign g.132441143C>G - NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=)) - ACAD11_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-62540C>T r.(?) p.(=) - VUS g.132441135G>A - NPHP3(NM_153240.5):c.65C>T (p.(Ala22Val)) - ACAD11_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-62523T>C r.(?) p.(=) - VUS g.132441118A>G g.132722274A>G NPHP3(NM_153240.4):c.82T>C (p.C28R) - NPHP3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-62520G>A r.(?) p.(=) - VUS g.132441115C>T - - - ACAD11_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-62500G>A r.(?) p.(=) - benign g.132441095C>T g.132722251C>T NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=) - NPHP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-62500G>A r.(?) p.(=) - likely benign g.132441095C>T g.132722251C>T NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=) - NPHP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-62500G>A r.(?) p.(=) - benign g.132441095C>T g.132722251C>T NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=) - NPHP3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-62487C>T r.(?) p.(=) - likely benign g.132441082G>A - NPHP3(NM_153240.5):c.118C>T (p.L40=) - ACAD11_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-62451G>A r.(?) p.(=) - benign g.132441046C>T g.132722202C>T NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T) - NPHP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-62451G>A r.(?) p.(=) - likely benign g.132441046C>T g.132722202C>T NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T) - NPHP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-62451G>A r.(?) p.(=) - likely benign g.132441046C>T g.132722202C>T NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T) - NPHP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-62416G>C r.(?) p.(=) - likely benign g.132441011C>G - NPHP3(NM_153240.5):c.189G>C (p.G63=) - ACAD11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-62416G>C r.(?) p.(=) - likely benign g.132441011C>G - NPHP3(NM_153240.5):c.189G>C (p.G63=) - ACAD11_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-62372G>T r.(?) p.(=) - VUS g.132440967C>A g.132722123C>A NPHP3(NM_153240.5):c.233G>T (p.G78V) - NPHP3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-62366C>T r.(?) p.(=) - VUS g.132440961G>A - NPHP3(NM_153240.4):c.239C>T (p.S80L) - ACAD11_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-62221C>G r.(?) p.(=) - likely benign g.132440816G>C - NPHP3(NM_153240.4):c.384C>G (p.A128=) - ACAD11_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-62194C>T r.(?) p.(=) - benign g.132440789G>A g.132721945G>A NPHP3(NM_153240.5):c.393+18C>T - ACAD11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-62194C>T r.(?) p.(=) - likely benign g.132440789G>A - NPHP3(NM_153240.5):c.393+18C>T - ACAD11_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-60154_-60153del r.(?) p.(=) - benign g.132438762_132438763del g.132719918_132719919del NPHP3(NM_153240.5):c.394-75_394-74delAT - NPHP3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-60024C>T r.(?) p.(=) - likely benign g.132438619G>A g.132719775G>A NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V) - NPHP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-60024C>T r.(?) p.(=) - likely benign g.132438619G>A g.132719775G>A NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V) - NPHP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-60024C>T r.(?) p.(=) - benign g.132438619G>A - NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V) - NPHP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-60023G>A r.(?) p.(=) - benign g.132438618C>T g.132719774C>T NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=) - NPHP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-60023G>A r.(?) p.(=) - likely benign g.132438618C>T - NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=) - NPHP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-59984T>C r.(?) p.(=) - likely benign g.132438579A>G - NPHP3(NM_153240.4):c.489T>C (p.H163=) - ACAD11_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-59403C>G r.(?) p.(=) - benign g.132437998G>C g.132719154G>C NPHP3(NM_153240.5):c.520-10C>G - ACAD11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-59403C>G r.(?) p.(=) - likely benign g.132437998G>C - NPHP3(NM_153240.5):c.520-10C>G - ACAD11_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.-59372_-59365dup r.(?) p.(=) - pathogenic g.132437960_132437967dup g.132719116_132719123dup NPHP3(NM_153240.5):c.541_548dupAATGAAAT (p.Q184Mfs*7) - ACAD11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-59324C>T r.(?) p.(=) - VUS g.132437919G>A - NPHP3(NM_153240.5):c.589C>T (p.(Leu197Phe)) - ACAD11_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-59292A>G r.(?) p.(=) - likely benign g.132437887T>C g.132719043T>C NPHP3(NM_153240.4):c.621A>G (p.V207=) - NPHP3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-59237T>C r.(?) p.(=) - likely benign g.132437832A>G g.132718988A>G NPHP3(NM_153240.4):c.670+6T>C - NPHP3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-58307del r.(?) p.(=) - benign g.132436909del g.132718065del NPHP3(NM_153240.5):c.670+936delA - NPHP3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-57170C>G r.(?) p.(=) - likely benign g.132435765G>C - NPHP3(NM_153240.5):c.671-12C>G - NPHP3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-57044C>A r.(?) p.(=) - VUS g.132435639G>T - NPHP3(NM_153240.4):c.785C>A (p.S262Y) - NPHP3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-57005G>A r.(?) p.(=) - VUS g.132435600C>T - NPHP3(NM_153240.5):c.823+1G>A - ACAD11_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-55476T>C r.(?) p.(=) - benign g.132434071A>G g.132715227A>G NPHP3(NM_153240.4):c.824-9T>C - NPHP3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-55435C>G r.(?) p.(=) - VUS g.132434030G>C - NPHP3(NM_153240.4):c.856C>G (p.Q286E) - ACAD11_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-55428C>T r.(?) p.(=) - VUS g.132434023G>A - NPHP3(NM_153240.4):c.863C>T (p.T288I) - ACAD11_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-55427T>A r.(?) p.(=) - likely benign g.132434022A>T g.132715178A>T NPHP3(NM_153240.4):c.864T>A (p.T288=) - NPHP3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-55371C>T r.(?) p.(=) - VUS g.132433966G>A - - - ACAD11_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.-53537A>G r.(?) p.(=) - pathogenic g.132432132T>C - NPHP3(NM_153240.5):c.958-2A>G - ACAD11_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-53484C>T r.(?) p.(=) - VUS g.132432079G>A g.132713235G>A NPHP3(NM_153240.4):c.1009C>T (p.H337Y) - NPHP3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-53455A>G r.(?) p.(=) - likely benign g.132432050T>C - NPHP3(NM_153240.5):c.1038A>G (p.E346=) - NPHP3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-53421G>T r.(?) p.(=) - pathogenic g.132432016C>A g.132713172C>A - - ACAD11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-53378C>T r.(?) p.(=) - likely pathogenic g.132431973G>A g.132713129G>A NPHP3(NM_153240.5):c.1115C>T (p.P372L) - ACAD11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-53359dup r.(?) p.(=) - benign g.132431961dup g.132713117dup NPHP3(NM_153240.5):c.1118+16dupA - ACAD11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-48520G>T r.(?) p.(=) - likely benign g.132427115C>A - NPHP3(NM_153240.5):c.1119-14G>T - ACAD11_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-48468A>G r.(?) p.(=) - likely benign g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-48468A>G r.(?) p.(=) - VUS g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-48468A>G r.(?) p.(=) - likely benign g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-48468A>G r.(?) p.(=) - likely benign g.132427063T>C g.132708219T>C NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S) - ACAD11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-48436C>T r.(?) p.(=) - likely benign g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-48436C>T r.(?) p.(=) - VUS g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-48436C>T r.(?) p.(=) - likely benign g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-48436C>T r.(?) p.(=) - benign g.132427031G>A g.132708187G>A NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-48436C>T r.(?) p.(=) - likely benign g.132427031G>A - NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C) - ACAD11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-48435G>A r.(?) p.(=) - VUS g.132427030C>T g.132708186C>T NPHP3(NM_153240.4):c.1190G>A (p.R397H) - NPHP3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-45981T>C r.(?) p.(=) - likely benign g.132424576A>G g.132705732A>G NPHP3(NM_153240.4):c.1350+8T>C - NPHP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-44634T>G r.(?) p.(=) - likely benign g.132423229A>C g.132704385A>C NPHP3(NM_153240.5):c.1351-14T>G - NPHP3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-44614C>T r.(?) p.(=) - likely benign g.132423209G>A - NPHP3(NM_153240.4):c.1357C>T (p.L453=) - ACAD11_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.-44534T>G r.(?) p.(=) - likely pathogenic g.132423129A>C g.132704285A>C NPHP3(NM_153240.4):c.1437T>G (p.(Asp479Glu)) - ACAD11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.-41787del r.(?) p.(=) - benign g.132420390del g.132701546del NPHP3(NM_153240.5):c.1525-5delT - NPHP3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-41787dup r.(?) p.(=) - likely benign g.132420390dup g.132701546dup NPHP3(NM_153240.4):c.1525-5dupT - ACAD11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-40714C>A r.(?) p.(=) - likely benign g.132419309G>T g.132700465G>T NPHP3(NM_153240.5):c.1629-17C>A - ACAD11_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-40614C>G r.(?) p.(=) - VUS g.132419209G>C - NPHP3(NM_153240.5):c.1712C>G (p.(Ser571Cys)) - ACAD11_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-40318T>C r.(?) p.(=) - likely benign g.132418913A>G - NPHP3(NM_153240.4):c.1744-8T>C - ACAD11_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-40260G>C r.(?) p.(=) - VUS g.132418855C>G g.132700011C>G NPHP3(NM_153240.4):c.1794G>C (p.(Lys598Asn)) - NPHP3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-40201T>C r.(?) p.(=) - VUS g.132418796A>G g.132699952A>G NPHP3(NM_153240.4):c.1853T>C (p.I618T), NPHP3(NM_153240.5):c.1853T>C (p.I618T) - ACAD11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-40201T>C r.(?) p.(=) - likely benign g.132418796A>G - NPHP3(NM_153240.4):c.1853T>C (p.I618T), NPHP3(NM_153240.5):c.1853T>C (p.I618T) - ACAD11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-40161G>A r.(?) p.(=) - benign g.132418756C>T g.132699912C>T NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A - NPHP3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-40161G>A r.(?) p.(=) - likely benign g.132418756C>T g.132699912C>T NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A - NPHP3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-40161G>A r.(?) p.(=) - likely benign g.132418756C>T g.132699912C>T NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A - NPHP3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-40161G>A r.(?) p.(=) - likely benign g.132418756C>T - NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A - NPHP3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-39684A>G r.(?) p.(=) - VUS g.132418279T>C g.132699435T>C NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V) - ACAD11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-39684A>G r.(?) p.(=) - VUS g.132418279T>C g.132699435T>C NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V) - ACAD11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-39684A>G r.(?) p.(=) - VUS g.132418279T>C - NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V) - ACAD11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-37618A>G r.(?) p.(=) - likely benign g.132416213T>C - NPHP3(NM_153240.4):c.1986-7A>G - ACAD11_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-37611G>A r.(?) p.(=) - benign g.132416206C>T g.132697362C>T NPHP3(NM_153240.5):c.1986G>A (p.R662=) - NPHP3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.-37611G>T r.(?) p.(=) - VUS g.132416206C>A - NPHP3(NM_153240.5):c.1986G>T (p.R662S) - ACAD11_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.-37071C>T r.(?) p.(=) - likely benign g.132415666G>A g.132696822G>A NPHP3(NM_153240.4):c.2089-9C>T, NPHP3(NM_153240.5):c.2089-9C>T - NPHP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-37071C>T r.(?) p.(=) - likely benign g.132415666G>A - NPHP3(NM_153240.4):c.2089-9C>T, NPHP3(NM_153240.5):c.2089-9C>T - NPHP3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-37047C>T r.(?) p.(=) - pathogenic g.132415642G>A g.132696798G>A NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*) - ACAD11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.-37047C>T r.(?) p.(=) - pathogenic g.132415642G>A - NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*) - ACAD11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-37047C>T r.(?) p.(=) - pathogenic g.132415642G>A - NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*) - ACAD11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-37037G>A r.(?) p.(=) - VUS g.132415632C>T - NPHP3(NM_153240.4):c.2114G>A (p.R705H) - NPHP3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-37019A>G r.(?) p.(=) - benign g.132415614T>C g.132696770T>C NPHP3(NM_153240.5):c.2132A>G (p.N711S) - NPHP3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.-36983C>T r.(?) p.(=) - VUS g.132415578G>A g.132696734G>A NPHP3(NM_153240.5):c.2168C>T (p.A723V) - ACAD11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-36982G>A r.(?) p.(=) - likely benign g.132415577C>T - NPHP3(NM_153240.4):c.2169G>A (p.A723=) - ACAD11_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-35076G>A r.(?) p.(=) - VUS g.132413671C>T g.132694827C>T NPHP3(NM_153240.4):c.2310G>A (p.Q770=) - ACAD11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-32936T>C r.(?) p.(=) - likely benign g.132411531A>G - NPHP3(NM_153240.4):c.2442T>C (p.Y814=), NPHP3(NM_153240.5):c.2442T>C (p.Y814=) - ACAD11_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-32936T>C r.(?) p.(=) - likely benign g.132411531A>G - NPHP3(NM_153240.4):c.2442T>C (p.Y814=), NPHP3(NM_153240.5):c.2442T>C (p.Y814=) - ACAD11_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-31467A>C r.(?) p.(=) - likely benign g.132410062T>G g.132691218T>G NPHP3(NM_153240.4):c.2544A>C (p.L848=) - NPHP3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-30906T>C r.(?) p.(=) - benign g.132409501A>G g.132690657A>G NPHP3(NM_153240.4):c.2571-7T>C, NPHP3(NM_153240.5):c.2571-7T>C - NPHP3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-30906T>C r.(?) p.(=) - benign g.132409501A>G g.132690657A>G NPHP3(NM_153240.4):c.2571-7T>C, NPHP3(NM_153240.5):c.2571-7T>C - NPHP3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-30863C>T r.(?) p.(=) - likely benign g.132409458G>A g.132690614G>A NPHP3(NM_153240.4):c.2607C>T (p.L869=) - NPHP3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-30860G>A r.(?) p.(=) - benign g.132409455C>T g.132690611C>T NPHP3(NM_153240.4):c.2610G>A (p.P870=), NPHP3(NM_153240.5):c.2610G>A (p.(Pro870=)) - ACAD11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-30860G>A r.(?) p.(=) - benign g.132409455C>T - NPHP3(NM_153240.4):c.2610G>A (p.P870=), NPHP3(NM_153240.5):c.2610G>A (p.(Pro870=)) - ACAD11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-30795C>T r.(?) p.(=) - VUS g.132409390G>A g.132690546G>A - - NPHP3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.