Full data view for gene NPHP4

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     

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.-103405_-103404del r.(?) p.(=) Unknown - VUS g.6155669_6155670del g.6095609_6095610del - - KCNAB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-103236A>G r.(?) p.(=) Unknown - VUS g.6155501T>C - - - KCNAB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-59453C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-59417G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? Both (homozygous) - 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 - - - - DNA ? blood - NPHP1 2_V:2 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - 1 LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? Both (homozygous) - 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 - - - - DNA ? blood - NPHP1 2_V:6 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - 1 LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? Both (homozygous) - 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 - - - - DNA ? blood - NPHP1 2_V:7 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - 1 LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? Both (homozygous) - 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 - - - - DNA ? blood - NPHP1 2_V:11 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - 1 LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? Both (homozygous) - 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 - - - - DNA ? blood - NPHP1 2_V:12 PubMed: Sellami 2006 Family 2 (article in French) (article in French) F - - - - - - - 1 LOVD
+/. - c.(-39+1_-38-1)_(279+1_280-1)del r.(?) p.? Both (homozygous) - 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 - - - - DNA ? blood - NPHP1 2_V:13 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - c.944G/A - NPHS2_000000 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - yes - Arab - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - c.[3683T>G];[=] - NPHS2_000000 normal 2nd chromosome PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - - Melanesian - - - - 1 LOVD
?/. - c.? r.(?) p.? Both (homozygous) - VUS g.? - NPHP4:p.[R674H];[R674H] - NPHS2_000000 - PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
+/. - c.? r.(?) p.? Both (homozygous) - pathogenic g.? - c.[1171_1181dupGCATTTATACC] - NPHS2_000000 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Tunisia - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - NPHP4: p.R959Q - NPHS2_000000 - PubMed: M'hamdi-2014 - - Germline - - - - - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - 1 LOVD
?/. - c.7G>T r.(?) p.(Asp3Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7G>T r.(?) p.(Asp3Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7G>T r.(?) p.(Asp3Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25A>C r.(?) p.(Thr9Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.86C>T r.(?) p.(Thr29Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.86C>T r.(?) p.(Thr29Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86C>T r.(?) p.(Thr29Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.111G>A r.(?) p.(Trp37*) Unknown - VUS g.6046239C>T g.5986179C>T - - NPHP4_000005 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. - c.111G>A r.(?) p.(Trp37*) Unknown - pathogenic g.6046239C>T - c.111G>A - NPHP4_000005 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
?/. - c.122C>T r.(?) p.(Pro41Leu) Unknown - VUS g.6046228G>A - NPHP4(NM_015102.4):c.122C>T (p.P41L) - NPHP4_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135+7A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.136-4del r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.136-4del r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.138C>T r.(?) p.(Gly46=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143T>C r.(?) p.(Leu48Pro) Unknown - VUS g.6038466A>G - NPHP4(NM_015102.4):c.143T>C (p.L48P) - NPHP4_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.169_176del r.(?) p.(His57SerfsTer5) Maternal (confirmed) 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 - - - - - DNA SEQ, SEQ-NG - WES NPHP 1022 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.175C>T r.(?) p.(Arg59Ter) Both (homozygous) - likely pathogenic g.6038434G>A g.5978374G>A NPHP4 c.175C>T, p.R59X - NPHP4_000204 homozygous PubMed: Otto 2008 - - Unknown ? - - - - DNA HD, SEQ blood genes: NPHP1-NPHP23 retinal disease F1241 PubMed: Otto 2008 - ? no Kuwait - - - - - 1 LOVD
?/. - c.184T>G r.(?) p.(Phe62Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246G>T r.(?) p.(Thr82=) Unknown - likely benign g.6038363C>A - NPHP4(NM_015102.4):c.246G>T (p.T82=) - NPHP4_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271T>C r.(?) p.(Phe91Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271T>C r.(?) p.(Phe91Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271T>C r.(?) p.(Phe91Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271T>C r.(?) p.(Phe91Leu) Unknown - pathogenic g.6038338A>G - c.271T/C - NPHP4_000140 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - no Germany - - - - - 1 LOVD
-?/. - c.279+6C>T r.(=) p.(=) Unknown - likely benign g.6038324G>A - NPHP4(NM_015102.5):c.279+6C>T - NPHP4_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.279+11G>A r.(=) p.(=) Unknown - benign g.6038319C>T g.5978259C>T NPHP4(NM_015102.5):c.279+11G>A - NPHP4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.305del r.(?) p.(Asn102Thrfs*76) Unknown - pathogenic g.6029294delT - c.305delA - NPHP4_000181 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 heterozygous mutation identified in father - - Germany - - - - - 1 LOVD
-/. - c.354A>G r.(?) p.(Lys118=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.357_372del r.(?) p.(Asp120HisfsTer53) Unknown - pathogenic g.6029228_6029243del g.5969168_5969183del - - NPHP4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419C>T r.(?) p.(Pro140Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.452+59_452+60del r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.452+60del r.(=) p.(=) Unknown - benign g.6029101del g.5969041del NPHP4(NM_015102.5):c.452+60delT - NPHP4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.511G>A r.(?) p.(Ala171Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.511G>A r.(?) p.(Ala171Thr) Unknown - benign g.6027365C>T - NPHP4(NM_015102.5):c.511G>A (p.A171T) - NPHP4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.517+1G>A r.spl? p.? Unknown - pathogenic g.6027358C>T - NPHP4(NM_015102.4):c.517+1G>A - NPHP4_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578C>T r.(?) p.(Pro193Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578C>T r.(?) p.(Pro193Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.673G>T r.(?) p.(Gly225Cys) Both (homozygous) ACMG likely pathogenic (recessive) g.6021854C>A g.5961794C>A - - NPHP4_000153 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs540402276 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P40 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M yes Oman - - - - - 1 Intisar Al Alawi
+?/. - c.673G>T r.(?) p.(Gly225Cys) Both (homozygous) 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 - - - - DNA SEQ-NG - 322 eye disease gene panel retinal disease 13DG0528 PubMed: Patel 2018 - - yes Saudi Arabia - - - - - 1 LOVD
-?/. - c.675C>T r.(?) p.(Gly225=) Unknown - likely benign g.6012895G>A - NPHP4(NM_015102.5):c.675C>T (p.G225=) - NPHP4_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.790G>A r.(?) p.(Val264Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.800A>T r.(?) p.(His267Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.811-7C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878A>G r.(?) p.(Asn293Ser) Unknown - VUS g.6008244T>C - NPHP4(NM_015102.5):c.878A>G (p.N293S) - NPHP4_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.898A>G r.(?) p.(Arg300Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.902C>T r.(?) p.(Pro301Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.902C>T r.(?) p.(Pro301Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.944C>T r.(?) p.(Thr315Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944C>T r.(?) p.(Thr315Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.955A>G r.(?) p.(Ser319Gly) Both (homozygous) - likely pathogenic g.6008167T>C g.5948107T>C NPHP4 c.95SA>G p.(Ser319Gly) - NPHP4_000194 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 54 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+/. - c.992+71G>T r.spl? p.? Paternal (inferred) - pathogenic g.? - c.992+71G>T - NPHS2_000000 - PubMed: Gonzalez del Pozo 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Gonzalez-del Pozo-2013 - M - Spain spanish - - - - 1 LOVD
-/. - c.993-56C>T r.(=) p.(=) Unknown - benign g.6007346G>A g.5947286G>A NPHP4(NM_015102.5):c.993-56C>T - NPHP4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024C>T r.(?) p.(Arg342Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1067T>C r.(?) p.(Val356Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089G>T r.(?) p.(Val363=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1114G>A r.(?) p.(Gly372Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114G>A r.(?) p.(Gly372Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118A>G r.(?) p.(Asn373Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1120-13G>T r.(=) p.(=) Unknown - benign g.5993402C>A g.5933342C>A NPHP4(NM_015102.5):c.1120-13G>T - NPHP4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1120-13G>T r.(=) p.(=) Unknown - likely benign g.5993402C>A - NPHP4(NM_015102.5):c.1120-13G>T - NPHP4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157T>C r.(?) p.(Met386Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1196A>G r.(?) p.(Glu399Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1257C>T r.(?) p.(His419=) Unknown - likely benign g.5993252G>A - NPHP4(NM_015102.4):c.1257C>T (p.H419=) - NPHP4_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271A>G r.(?) p.(Lys424Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271A>G r.(?) p.(Lys424Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1271del r.(?) p.(Lys424Argfs*7) Unknown - pathogenic g.5993239del - NPHP4(NM_015102.5):c.1271delA (p.K424Rfs*7) - NPHP4_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1302+13G>C r.(=) p.(=) Unknown - likely benign g.5993194C>G - NPHP4(NM_015102.5):c.1302+13G>C - NPHP4_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1306_1314dup r.(?) p.(Lys436_Val438dup) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1306_1314dup r.(?) p.(Lys436_Val438dup) Unknown - VUS g.5987843_5987851dup g.5927783_5927791dup - - NPHP4_000148 no genotypes reported PubMed: Sergouniotis 2016 - rs747743472 Germline - 1/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.1344G>A r.(?) p.(Ser448=) Unknown - likely benign g.5987806C>T - NPHP4(NM_015102.4):c.1344G>A (p.S448=) - NPHP4_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1439C>T r.(?) p.(Ser480Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1440G>A r.(?) p.(Ser480=) Unknown - VUS g.5987710C>T - NPHP4(NM_001291593.1):c.74G>A (p.R25Q) - NPHP4_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1441+13A>G r.(=) p.(=) Unknown - benign g.5987696T>C g.5927636T>C NPHP4(NM_015102.4):c.1441+13A>G - NPHP4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1442-7C>T r.(=) p.(=) Unknown - benign g.5969280G>A g.5909220G>A NPHP4(NM_015102.5):c.1442-7C>T - NPHP4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1442-7C>T r.(=) p.(=) Unknown - likely benign g.5969280G>A - NPHP4(NM_015102.5):c.1442-7C>T - NPHP4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1445C>T r.(?) p.(Pro482Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1470C>T r.(?) p.(Leu490=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1470C>T r.(?) p.(Leu490=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1490C>G r.(?) p.(Pro497Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1490C>G r.(?) p.(Pro497Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1503+10G>A r.(=) p.(=) Unknown - benign g.5969202C>T g.5909142C>T NPHP4(NM_015102.5):c.1503+10G>A - NPHP4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1503+10G>A r.(=) p.(=) Unknown - benign g.5969202C>T g.5909142C>T NPHP4(NM_015102.5):c.1503+10G>A - NPHP4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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