All variants in the NPHP4 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_015102.4 transcript reference sequence.

357 entries on 4 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.-103405_-103404del r.(?) p.(=) - VUS g.6155669_6155670del g.6095609_6095610del - - KCNAB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-103236A>G r.(?) p.(=) - VUS g.6155501T>C - - - KCNAB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-59453C>T r.(?) p.(=) - VUS g.6111718G>A g.6051658G>A KCNAB2(NM_001199862.1):c.122G>A (p.(Arg41Gln)) - KCNAB2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-59417G>A r.(?) p.(=) - VUS g.6111682C>T g.6051622C>T KCNAB2(NM_001199862.1):c.86C>T (p.(Thr29Met)) - KCNAB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? - pathogenic g.(6046388_6052303)_(6029320_6038329)del g.(5986328_5992243)_(5969260_5978269)del NPHP4 deletion of exon 2 and 3 - NPHP4_000223 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? - pathogenic g.(6046388_6052303)_(6029320_6038329)del g.(5986328_5992243)_(5969260_5978269)del NPHP4 deletion of exon 2 and 3 - NPHP4_000223 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? - pathogenic g.(6046388_6052303)_(6029320_6038329)del g.(5986328_5992243)_(5969260_5978269)del NPHP4 deletion of exon 2 and 3 - NPHP4_000223 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? - pathogenic g.(6046388_6052303)_(6029320_6038329)del g.(5986328_5992243)_(5969260_5978269)del NPHP4 deletion of exon 2 and 3 - NPHP4_000223 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? - pathogenic g.(6046388_6052303)_(6029320_6038329)del g.(5986328_5992243)_(5969260_5978269)del NPHP4 deletion of exon 2 and 3 - NPHP4_000223 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? - pathogenic g.(6046388_6052303)_(6029320_6038329)del g.(5986328_5992243)_(5969260_5978269)del NPHP4 deletion of exon 2 and 3 - NPHP4_000223 homozygous PubMed: Sellami 2006 - - Germline yes - - - - LOVD
+/. - c.? r.(?) p.? - pathogenic g.? - c.944G/A - NPHS2_000000 - PubMed: Otto 2011 - - Germline - - - - - LOVD
?/. - c.? r.(?) p.? - VUS g.? - c.[3683T>G];[=] - NPHS2_000000 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - LOVD
?/. - c.? r.(?) p.? - VUS g.? - NPHP4:p.[R674H];[R674H] - NPHS2_000000 - PubMed: Redin-2012 - - Germline - - - - - LOVD
+/. - c.? r.(?) p.? - pathogenic g.? - c.[1171_1181dupGCATTTATACC] - NPHS2_000000 - PubMed: Redin-2012 - - Germline yes - - - - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - NPHP4: p.R959Q - NPHS2_000000 - PubMed: M'hamdi-2014 - - Germline - - - - - LOVD
?/. - c.7G>T r.(?) p.(Asp3Tyr) - VUS g.6046343C>A g.5986283C>A NPHP4(NM_015102.4):c.7G>T (p.D3Y), NPHP4(NM_015102.5):c.7G>T (p.D3Y) - NPHP4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.7G>T r.(?) p.(Asp3Tyr) - VUS g.6046343C>A g.5986283C>A NPHP4(NM_015102.4):c.7G>T (p.D3Y), NPHP4(NM_015102.5):c.7G>T (p.D3Y) - NPHP4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.7G>T r.(?) p.(Asp3Tyr) - likely benign g.6046343C>A - NPHP4(NM_015102.4):c.7G>T (p.D3Y), NPHP4(NM_015102.5):c.7G>T (p.D3Y) - NPHP4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.25A>C r.(?) p.(Thr9Pro) - VUS g.6046325T>G g.5986265T>G NPHP4(NM_015102.5):c.25A>C (p.T9P) - NPHP4_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.86C>T r.(?) p.(Thr29Met) - benign g.6046264G>A g.5986204G>A NPHP4(NM_015102.3):c.86C>T (p.(Thr29Met)), NPHP4(NM_015102.4):c.86C>T (p.T29M), NPHP4(NM_015102.5):c.86C>T (p.T29M) - NPHP4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.86C>T r.(?) p.(Thr29Met) - benign g.6046264G>A g.5986204G>A NPHP4(NM_015102.3):c.86C>T (p.(Thr29Met)), NPHP4(NM_015102.4):c.86C>T (p.T29M), NPHP4(NM_015102.5):c.86C>T (p.T29M) - NPHP4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.86C>T r.(?) p.(Thr29Met) - likely benign g.6046264G>A g.5986204G>A NPHP4(NM_015102.3):c.86C>T (p.(Thr29Met)), NPHP4(NM_015102.4):c.86C>T (p.T29M), NPHP4(NM_015102.5):c.86C>T (p.T29M) - NPHP4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 2 c.111G>A r.(?) p.(Trp37*) - VUS g.6046239C>T g.5986179C>T - - NPHP4_000005 - - - - Unknown - - - - - Feng Wang
+/. - c.111G>A r.(?) p.(Trp37*) - pathogenic g.6046239C>T - c.111G>A - NPHP4_000005 - PubMed: Wang-2014 - - Unknown - - - - - LOVD
?/. - c.122C>T r.(?) p.(Pro41Leu) - VUS g.6046228G>A - NPHP4(NM_015102.4):c.122C>T (p.P41L) - NPHP4_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.135+7A>G r.(=) p.(=) - likely benign g.6046208T>C g.5986148T>C NPHP4(NM_015102.5):c.135+7A>G - NPHP4_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.136-4del r.spl? p.? - benign g.6038478del g.5978418del NPHP4(NM_015102.3):c.136-4del (p.?), NPHP4(NM_015102.5):c.136-4delC - NPHP4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.136-4del r.spl? p.? - likely benign g.6038478del g.5978418del NPHP4(NM_015102.3):c.136-4del (p.?), NPHP4(NM_015102.5):c.136-4delC - NPHP4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.138C>T r.(?) p.(Gly46=) - likely benign g.6038471G>A g.5978411G>A NPHP4(NM_015102.4):c.138C>T (p.G46=) - NPHP4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.143T>C r.(?) p.(Leu48Pro) - VUS g.6038466A>G - NPHP4(NM_015102.4):c.143T>C (p.L48P) - NPHP4_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.169_176del r.(?) p.(His57SerfsTer5) ACMG likely pathogenic g.6038433_6038440del g.5978373_5978380del c.169(exon3)_c.176(exon3)delCATCTGCG - NPHP4_000199 - PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - Johan den Dunnen
+?/. - c.175C>T r.(?) p.(Arg59Ter) - likely pathogenic g.6038434G>A g.5978374G>A NPHP4 c.175C>T, p.R59X - NPHP4_000204 homozygous PubMed: Otto 2008 - - Unknown ? - - - - LOVD
?/. - c.184T>G r.(?) p.(Phe62Val) - VUS g.6038425A>C g.5978365A>C NPHP4(NM_015102.4):c.184T>G (p.F62V) - NPHP4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.246G>T r.(?) p.(Thr82=) - likely benign g.6038363C>A - NPHP4(NM_015102.4):c.246G>T (p.T82=) - NPHP4_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.271T>C r.(?) p.(Phe91Leu) - VUS g.6038338A>G g.5978278A>G NPHP4(NM_015102.4):c.271T>C (p.F91L), NPHP4(NM_015102.5):c.271T>C (p.F91L) - NPHP4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.271T>C r.(?) p.(Phe91Leu) - VUS g.6038338A>G g.5978278A>G NPHP4(NM_015102.4):c.271T>C (p.F91L), NPHP4(NM_015102.5):c.271T>C (p.F91L) - NPHP4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.271T>C r.(?) p.(Phe91Leu) - VUS g.6038338A>G g.5978278A>G NPHP4(NM_015102.4):c.271T>C (p.F91L), NPHP4(NM_015102.5):c.271T>C (p.F91L) - NPHP4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.271T>C r.(?) p.(Phe91Leu) - pathogenic g.6038338A>G - c.271T/C - NPHP4_000140 - PubMed: Otto 2011 - - Germline - - - - - LOVD
-?/. - c.279+6C>T r.(=) p.(=) - likely benign g.6038324G>A - NPHP4(NM_015102.5):c.279+6C>T - NPHP4_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.279+11G>A r.(=) p.(=) - benign g.6038319C>T g.5978259C>T NPHP4(NM_015102.5):c.279+11G>A - NPHP4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.305del r.(?) p.(Asn102Thrfs*76) - pathogenic g.6029294delT - c.305delA - NPHP4_000181 - PubMed: Otto 2011 - - Germline - - - - - LOVD
-/. - c.354A>G r.(?) p.(Lys118=) - benign g.6029245T>C g.5969185T>C NPHP4(NM_015102.5):c.354A>G (p.K118=) - NPHP4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.357_372del r.(?) p.(Asp120HisfsTer53) - pathogenic g.6029228_6029243del g.5969168_5969183del - - NPHP4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.419C>T r.(?) p.(Pro140Leu) - VUS g.6029180G>A g.5969120G>A NPHP4(NM_015102.5):c.419C>T (p.P140L) - NPHP4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.452+59_452+60del r.(=) p.(=) - benign g.6029100_6029101del g.5969040_5969041del NPHP4(NM_015102.5):c.452+59_452+60delTT - NPHP4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.452+60del r.(=) p.(=) - benign g.6029101del g.5969041del NPHP4(NM_015102.5):c.452+60delT - NPHP4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.511G>A r.(?) p.(Ala171Thr) - benign g.6027365C>T g.5967305C>T NPHP4(NM_015102.5):c.511G>A (p.A171T) - NPHP4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.511G>A r.(?) p.(Ala171Thr) - benign g.6027365C>T - NPHP4(NM_015102.5):c.511G>A (p.A171T) - NPHP4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.517+1G>A r.spl? p.? - pathogenic g.6027358C>T - NPHP4(NM_015102.4):c.517+1G>A - NPHP4_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.578C>T r.(?) p.(Pro193Leu) - likely benign g.6021949G>A g.5961889G>A NPHP4(NM_015102.4):c.578C>T (p.P193L), NPHP4(NM_015102.5):c.578C>T (p.P193L) - NPHP4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.578C>T r.(?) p.(Pro193Leu) - likely benign g.6021949G>A - NPHP4(NM_015102.4):c.578C>T (p.P193L), NPHP4(NM_015102.5):c.578C>T (p.P193L) - NPHP4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.673G>T r.(?) p.(Gly225Cys) ACMG likely pathogenic (recessive) g.6021854C>A g.5961794C>A - - NPHP4_000153 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs540402276 Germline - - - - - Intisar Al Alawi
+?/. - c.673G>T r.(?) p.(Gly225Cys) ACMG likely pathogenic (recessive) g.6021854C>A g.5961794C>A NM_015102.3:c.673G>T;p.(Gly225Cys) - NPHP4_000153 - PubMed: Patel 2018 - - Germline yes - - - - LOVD
-?/. - c.675C>T r.(?) p.(Gly225=) - likely benign g.6012895G>A - NPHP4(NM_015102.5):c.675C>T (p.G225=) - NPHP4_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.790G>A r.(?) p.(Val264Ile) - benign g.6012780C>T g.5952720C>T NPHP4(NM_015102.5):c.790G>A (p.V264I) - NPHP4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.800A>T r.(?) p.(His267Leu) - likely benign g.6012770T>A g.5952710T>A NPHP4(NM_015102.4):c.800A>T (p.H267L) - NPHP4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.811-7C>T r.(=) p.(=) - likely benign g.6008318G>A g.5948258G>A NPHP4(NM_015102.5):c.811-7C>T - NPHP4_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.878A>G r.(?) p.(Asn293Ser) - VUS g.6008244T>C - NPHP4(NM_015102.5):c.878A>G (p.N293S) - NPHP4_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.898A>G r.(?) p.(Arg300Gly) - VUS g.6008224T>C g.5948164T>C NPHP4(NM_015102.5):c.898A>G (p.R300G) - NPHP4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.902C>T r.(?) p.(Pro301Leu) - likely benign g.6008220G>A g.5948160G>A NPHP4(NM_015102.3):c.902C>T (p.(Pro301Leu)) - NPHP4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.902C>T r.(?) p.(Pro301Leu) - VUS g.6008220G>A g.5948160G>A NPHP4(NM_015102.3):c.902C>T (p.(Pro301Leu)) - NPHP4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.944C>T r.(?) p.(Thr315Met) - likely benign g.6008178G>A g.5948118G>A NPHP4(NM_015102.4):c.944C>T (p.T315M), NPHP4(NM_015102.5):c.944C>T (p.T315M) - NPHP4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.944C>T r.(?) p.(Thr315Met) - VUS g.6008178G>A - NPHP4(NM_015102.4):c.944C>T (p.T315M), NPHP4(NM_015102.5):c.944C>T (p.T315M) - NPHP4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.955A>G r.(?) p.(Ser319Gly) - likely pathogenic g.6008167T>C g.5948107T>C NPHP4 c.95SA>G p.(Ser319Gly) - NPHP4_000194 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
+/. - c.992+71G>T r.spl? p.? - pathogenic g.? - c.992+71G>T - NPHS2_000000 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - - - LOVD
-/. - c.993-56C>T r.(=) p.(=) - benign g.6007346G>A g.5947286G>A NPHP4(NM_015102.5):c.993-56C>T - NPHP4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1024C>T r.(?) p.(Arg342Cys) - VUS g.6007259G>A g.5947199G>A NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C) - NPHP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1024C>T r.(?) p.(Arg342Cys) - VUS g.6007259G>A g.5947199G>A NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C) - NPHP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1024C>T r.(?) p.(Arg342Cys) - VUS g.6007259G>A g.5947199G>A NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C) - NPHP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1024C>T r.(?) p.(Arg342Cys) - likely benign g.6007259G>A g.5947199G>A NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C) - NPHP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1024C>T r.(?) p.(Arg342Cys) - likely benign g.6007259G>A g.5947199G>A NPHP4(NM_015102.3):c.1024C>T (p.(Arg342Cys)), NPHP4(NM_015102.4):c.1024C>T (p.R342C), NPHP4(NM_015102.5):c.1024C>T (p.R342C) - NPHP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1067T>C r.(?) p.(Val356Ala) - VUS g.6007216A>G g.5947156A>G NPHP4(NM_015102.3):c.1067T>C (p.(Val356Ala)) - NPHP4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1089G>T r.(?) p.(Val363=) - likely benign g.6007194C>A g.5947134C>A NPHP4(NM_015102.4):c.1089G>T (p.V363=) - NPHP4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1114G>A r.(?) p.(Gly372Ser) - VUS g.6007169C>T - NPHP4(NM_015102.3):c.1114G>A (p.(Gly372Ser)), NPHP4(NM_015102.4):c.1114G>A (p.G372S) - NPHP4_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1114G>A r.(?) p.(Gly372Ser) - likely benign g.6007169C>T - NPHP4(NM_015102.3):c.1114G>A (p.(Gly372Ser)), NPHP4(NM_015102.4):c.1114G>A (p.G372S) - NPHP4_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1118A>G r.(?) p.(Asn373Ser) - VUS g.6007165T>C g.5947105T>C NPHP4(NM_015102.4):c.1118A>G (p.N373S) - NPHP4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1120-13G>T r.(=) p.(=) - benign g.5993402C>A g.5933342C>A NPHP4(NM_015102.5):c.1120-13G>T - NPHP4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1120-13G>T r.(=) p.(=) - likely benign g.5993402C>A - NPHP4(NM_015102.5):c.1120-13G>T - NPHP4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1157T>C r.(?) p.(Met386Thr) - VUS g.5993352A>G g.5933292A>G NPHP4(NM_015102.4):c.1157T>C (p.M386T) - NPHP4_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1196A>G r.(?) p.(Glu399Gly) - VUS g.5993313T>C g.5933253T>C NPHP4(NM_015102.4):c.1196A>G (p.E399G) - NPHP4_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1257C>T r.(?) p.(His419=) - likely benign g.5993252G>A - NPHP4(NM_015102.4):c.1257C>T (p.H419=) - NPHP4_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1271A>G r.(?) p.(Lys424Arg) - VUS g.5993238T>C g.5933178T>C NPHP4(NM_015102.4):c.1271A>G (p.K424R), NPHP4(NM_015102.5):c.1271A>G (p.K424R) - NPHP4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1271A>G r.(?) p.(Lys424Arg) - VUS g.5993238T>C g.5933178T>C NPHP4(NM_015102.4):c.1271A>G (p.K424R), NPHP4(NM_015102.5):c.1271A>G (p.K424R) - NPHP4_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1271del r.(?) p.(Lys424Argfs*7) - pathogenic g.5993239del - NPHP4(NM_015102.5):c.1271delA (p.K424Rfs*7) - NPHP4_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1302+13G>C r.(=) p.(=) - likely benign g.5993194C>G - NPHP4(NM_015102.5):c.1302+13G>C - NPHP4_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1306_1314dup r.(?) p.(Lys436_Val438dup) - VUS g.5987843_5987851dup g.5927783_5927791dup NPHP4(NM_015102.5):c.1306_1314dupAAGCAGGTG (p.K436_V438dup) - NPHP4_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1306_1314dup r.(?) p.(Lys436_Val438dup) - VUS g.5987843_5987851dup g.5927783_5927791dup - - NPHP4_000148 no genotypes reported PubMed: Sergouniotis 2016 - rs747743472 Germline - 1/486 individuals - - - LOVD
-?/. - c.1344G>A r.(?) p.(Ser448=) - likely benign g.5987806C>T - NPHP4(NM_015102.4):c.1344G>A (p.S448=) - NPHP4_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1439C>T r.(?) p.(Ser480Leu) - VUS g.5987711G>A g.5927651G>A NPHP4(NM_015102.4):c.1439C>T (p.S480L) - NPHP4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1440G>A r.(?) p.(Ser480=) - VUS g.5987710C>T - NPHP4(NM_001291593.1):c.74G>A (p.R25Q) - NPHP4_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1441+13A>G r.(=) p.(=) - benign g.5987696T>C g.5927636T>C NPHP4(NM_015102.4):c.1441+13A>G - NPHP4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1442-7C>T r.(=) p.(=) - benign g.5969280G>A g.5909220G>A NPHP4(NM_015102.5):c.1442-7C>T - NPHP4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1442-7C>T r.(=) p.(=) - likely benign g.5969280G>A - NPHP4(NM_015102.5):c.1442-7C>T - NPHP4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1445C>T r.(?) p.(Pro482Leu) - VUS g.5969270G>A g.5909210G>A NPHP4(NM_015102.5):c.1445C>T (p.P482L) - NPHP4_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1470C>T r.(?) p.(Leu490=) - benign g.5969245G>A g.5909185G>A NPHP4(NM_015102.4):c.1470C>T (p.L490=), NPHP4(NM_015102.5):c.1470C>T (p.L490=) - NPHP4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1470C>T r.(?) p.(Leu490=) - benign g.5969245G>A g.5909185G>A NPHP4(NM_015102.4):c.1470C>T (p.L490=), NPHP4(NM_015102.5):c.1470C>T (p.L490=) - NPHP4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1490C>G r.(?) p.(Pro497Arg) - benign g.5969225G>C g.5909165G>C NPHP4(NM_015102.5):c.1490C>G (p.P497R) - NPHP4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1490C>G r.(?) p.(Pro497Arg) - benign g.5969225G>C g.5909165G>C NPHP4(NM_015102.5):c.1490C>G (p.P497R) - NPHP4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1503+10G>A r.(=) p.(=) - benign g.5969202C>T g.5909142C>T NPHP4(NM_015102.5):c.1503+10G>A - NPHP4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1503+10G>A r.(=) p.(=) - benign g.5969202C>T g.5909142C>T NPHP4(NM_015102.5):c.1503+10G>A - NPHP4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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