Full data view for gene PRSS56

Information The variants shown are described using the NM_001195129.1 transcript reference sequence.

157 entries on 2 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     
?/. 1 c.2T>C r.(?) p.? Parent #1 ACMG VUS g.233385310T>C g.232520600T>C - - PRSS56_000024 ACMG PM2_sup, PVS1_mod PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat46 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-/. - c.13G>A r.(?) p.(Val5Met) Unknown - benign g.233385321G>A g.232520611G>A PRSS56(NM_001195129.1):c.13G>A (p.V5M) - PRSS56_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.74G>A r.(?) p.(Arg25His) Unknown ACMG VUS g.233385382G>A g.232520672G>A - - PRSS56_000025 ACMG PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat44 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - benign g.233385396G>A g.232520686G>A PRSS56(NM_001195129.2):c.88G>A (p.A30T) - PRSS56_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.104C>T r.(?) p.(Ser35Leu) Parent #1 ACMG VUS g.233386037C>T g.232521327C>T - - PRSS56_000026 ACMG PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat35 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-?/. - c.105G>A r.(?) p.(Ser35=) Unknown - likely benign g.233386038G>A - PRSS56(NM_001195129.1):c.105G>A (p.S35=) - CHRND_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.164G>A r.(?) p.(Arg55Gln) Unknown - VUS g.233386097G>A - PRSS56(NM_001195129.2):c.164G>A (p.(Arg55Gln)) - CHRND_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171G>A r.(?) p.(Ala57=) Unknown - likely benign g.233386104G>A - PRSS56(NM_001195129.1):c.171G>A (p.A57=) - CHRND_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.211G>C r.(?) p.(Gly71Arg) Unknown - benign g.233386531G>C g.232521821G>C PRSS56(NM_001195129.1):c.211G>C (p.G71R) - CHRND_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.211G>C r.(?) p.(Gly71Arg) Parent #1 - benign g.233386531G>C g.232521821G>C - - CHRND_000035 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115590586 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 3 c.226C>T r.(?) p.(Gln76Ter) Parent #1 ACMG pathogenic (recessive) g.233386546C>T g.232521836C>T - - PRSS56_000027 ACMG PVS1, PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat79 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 3 c.226C>T r.(?) p.(Gln76Ter) Parent #2 ACMG pathogenic (recessive) g.233386546C>T g.232521836C>T - - PRSS56_000027 ACMG PVS1, PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat35 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-/. - c.256+7T>C r.(=) p.(=) Unknown - benign g.233386583T>C g.232521873T>C PRSS56(NM_001195129.2):c.256+7T>C - PRSS56_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.320G>A r.(?) p.(Gly107Glu) Both (homozygous) - likely pathogenic g.233386744G>A g.232522034G>A c.320G-->A; p.Gly107Glu - PRSS56_000015 no Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - MCOP6 260 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.320G>A r.(?) p.(Gly107Glu) Both (homozygous) - pathogenic (recessive) g.233386744G>A g.232522034G>A - - PRSS56_000015 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam16899 PubMed: Jackson 2020 - - - - Africa;black - - - - 1 Johan den Dunnen
?/. 4 c.320G>A r.(?) p.(Gly107Glu) Parent #1 ACMG VUS g.233386744G>A g.232522034G>A - - PRSS56_000015 ACMG PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat55 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 4 c.320G>T r.(?) p.(Gly107Val) Parent #1 ACMG VUS g.233386744G>T g.232522034G>T - - PRSS56_000028 ACMG PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat9 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 4 c.323G>A r.(?) p.(Gly108Asp) Both (homozygous) ACMG VUS g.233386747G>A g.232522037G>A - - PRSS56_000029 ACMG PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat10 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+?/. - c.343dupG r.(?) p.(Ala115Glyfs*39) Unknown - likely pathogenic g.233386767dup g.232522057dup PRSS58 c.343dupG, p.Ala115fs (het) - PRSS56_000016 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 1/97248 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 2 PubMed: Guo 2019 Trio number 2 - - China Chinese - - - - 1 LOVD
+/. - c.388T>G r.(?) p.(Cys130Gly) Both (homozygous) - pathogenic (recessive) g.233386812T>G g.232522102T>G - - PRSS56_000010 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F31‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.388T>G r.(?) p.(Cys130Gly) Both (homozygous) - likely pathogenic g.233386812T>G g.232522102T>G PRSS56: c.[388T>G];[388T>G], p.[C130G];[C130G] - PRSS56_000010 homozygous PubMed: Nowilaty 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease F6-P12 PubMed: Nowilaty 2013 Family 6 M - - - - - - - 1 LOVD
?/. 4 c.390C>G r.(?) p.(Cys130Trp) Both (homozygous) ACMG VUS g.233386814C>G g.232522104C>G - - PRSS56_000030 ACMG PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat30 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-?/. - c.414C>T r.(?) p.(Ser138=) Unknown - likely benign g.233386838C>T g.232522128C>T PRSS56(NM_001195129.1):c.414C>T (p.S138=) - CHRND_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.416G>C r.(?) p.(Trp139Ser) Both (homozygous) ACMG VUS g.233386840G>C g.232522130G>C - - PRSS56_000031 ACMG PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat61 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. - c.456T>G r.(?) p.(Asn152Lys) Unknown - VUS g.233387234T>G - PRSS56(NM_001195129.1):c.456T>G (p.N152K) - CHRND_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.465del r.(?) p.(Trp156Glyfs*3) Unknown - likely pathogenic g.233387243del - PRSS56(NM_001195129.2):c.465delG (p.W156Gfs*3) - CHRND_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.468G>T r.(?) p.(Trp156Cys) Unknown - VUS g.233387246G>T - - - CHRND_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.511del r.(?) p.(Glu171ArgfsTer4) Parent #1 ACMG likely pathogenic (recessive) g.233387289del g.232522579del - - PRSS56_000032 ACMG PVS1, PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat12 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+?/. 5 c.511del r.(?) p.(Glu171ArgfsTer4) Parent #1 ACMG likely pathogenic (recessive) g.233387289del g.232522579del - - PRSS56_000032 ACMG PVS1, PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat33 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+?/. 5 c.511del r.(?) p.(Glu171ArgfsTer4) Parent #1 ACMG likely pathogenic (recessive) g.233387289del g.232522579del - - PRSS56_000032 ACMG PVS1, PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat60 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 5 c.540C>A r.(?) p.(His180Gln) Parent #1 ACMG VUS g.233387318C>A g.232522608C>A - - PRSS56_000033 ACMG PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat76 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 6 c.632G>C r.(?) p.(Cys211Ser) Parent #1 ACMG VUS g.233387497G>C g.232522787G>C - - PRSS56_000034 ACMG PM2_sup, PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat40 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 6 c.632G>C r.(?) p.(Cys211Ser) Parent #1 ACMG VUS g.233387497G>C g.232522787G>C - - PRSS56_000034 ACMG PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat50 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 6 c.656C>A r.(?) p.(Pro219His) Both (homozygous) ACMG VUS g.233387521C>A g.232522811C>A - - PRSS56_000035 ACMG PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat62 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-?/. - c.707-7C>T r.(=) p.(=) Unknown - likely benign g.233387763C>T - PRSS56(NM_001195129.2):c.707-7C>T - CHRND_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.709G>A r.(?) p.(Gly237Arg) Unknown ACMG VUS g.233387772G>A g.232523062G>A - - PRSS56_000036 ACMG PM2_sup, PP3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat81 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-?/. - c.744T>C r.(?) p.(Val248=) Unknown - likely benign g.233387807T>C g.232523097T>C PRSS56(NM_001195129.1):c.744T>C (p.V248=) - CHRND_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.748_751del r.(?) p.(Leu250SerfsTer40) Parent #1 ACMG pathogenic (recessive) g.233387811_233387814del g.232523101_232523104del - - PRSS56_000037 ACMG PVS1, PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat71 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-?/. - c.760G>A r.(?) p.(Asp254Asn) Unknown - likely benign g.233387823G>A g.232523113G>A PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn)) - PRSS56_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760G>A r.(?) p.(Asp254Asn) Unknown - VUS g.233387823G>A - PRSS56(NM_001195129.1):c.760G>A (p.D254N, p.(Asp254Asn)) - PRSS56_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.766T>C r.(?) p.(Cys256Arg) Unknown - VUS g.233387829T>C - PRSS56(NM_001369848.1):c.766T>C (p.C256R) - CHRND_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.769C>T r.(?) p.(Arg257Ter) Parent #1 ACMG likely pathogenic (recessive) g.233387832C>T g.232523122C>T - - PRSS56_000038 ACMG PVS1, PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat32 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-?/. - c.770G>A r.(?) p.(Arg257Gln) Unknown - likely benign g.233387833G>A - PRSS56(NM_001195129.1):c.770G>A (p.R257Q) - CHRND_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.779T>G r.(?) p.(Leu260Arg) Parent #1 ACMG VUS g.233387842T>G g.232523132T>G - - PRSS56_000039 ACMG PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat57 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+?/. - c.781G>A r.(?) p.(Gly261Arg) Unknown - likely pathogenic g.233387844G>A g.232523134G>A PRSS61 c.781G>A, p.Gly261Arg (het) - PRSS56_000017 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 2/127322 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 4 PubMed: Guo 2019 Trio number 4 - - China Chinese - - - - 1 LOVD
+?/. 7 c.813C>A r.(?) p.(Cys271Ter) Both (homozygous) ACMG likely pathogenic (recessive) g.233387876C>A g.232523166C>A - - PRSS56_000040 ACMG PVS1, PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat39 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 8 c.875G>A r.(?) p.(Cys292Tyr) Parent #1 ACMG VUS g.233388151G>A g.232523441G>A - - PRSS56_000041 ACMG PM2_sup, PM3, PP1 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat58 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. - c.904G>T r.(?) p.(Val302Phe) Unknown - VUS g.233388180G>T g.232523470G>T PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe)) - CHRND_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.904G>T r.(?) p.(Val302Phe) Unknown - likely pathogenic g.233388180G>T - PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe)) - CHRND_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904G>T r.(?) p.(Val302Phe) Unknown - VUS g.233388180G>T - PRSS56(NM_001195129.1):c.904G>T (p.V302F), PRSS56(NM_001195129.2):c.904G>T (p.(Val302Phe)) - CHRND_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.914G>A r.(?) p.(Gly305Glu) Parent #2 ACMG VUS g.233388190G>A g.232523480G>A - - PRSS56_000042 ACMG PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat50 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 8 c.929G>C r.(?) p.(Gly310Ala) Parent #2 ACMG VUS g.233388205G>C g.232523495G>C - - PRSS56_000043 ACMG PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat40 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 8 c.943_951dup r.(?) p.(Glu315_Gly317dup) Parent #1 ACMG VUS g.233388219_233388227dup g.232523509_232523517dup - - PRSS56_000044 ACMG PM2_sup, PM4 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat77 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+?/. - c.961G>T r.(?) p.(Val321Phe) Both (homozygous) ACMG likely pathogenic (recessive) g.233388237G>T g.232523527G>T - - PRSS56_000011 ACMG PM1, PM2, PP2, PP3, PP4 PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F42‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
-?/. - c.1064C>T r.(?) p.(Pro355Leu) Unknown - likely benign g.233388533C>T g.232523823C>T PRSS56(NM_001195129.1):c.1064C>T (p.(Pro355Leu)) - CHRND_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1066C>A r.(?) p.(Gln356Lys) Unknown - likely benign g.233388535C>A - PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys)) - CHRND_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1066C>A r.(?) p.(Gln356Lys) Unknown - VUS g.233388535C>A - PRSS56(NM_001195129.1):c.1066C>A (p.Q356K), PRSS56(NM_001195129.2):c.1066C>A (p.(Gln356Lys)) - CHRND_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1066del r.(?) p.(Gln356ArgfsTer148) Parent #2 ACMG pathogenic (recessive) g.233388535del g.232523825del - - PRSS56_000045 ACMG PVS1, PM2_sup, PM3_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat58 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F32‐PM PubMed: Patel 2017 family - - Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F33‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F34‐PM PubMed: Patel 2017 family - no Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F36‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F38‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F39‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F40‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F41‐PM PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F43‐PM PubMed: Patel 2017 patient - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC]; [1066dupC],p.[Gln356ProfsX152]; [Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease F2-P2 PubMed: Nowilaty 2013 Family 2 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease F4-P8 PubMed: Nowilaty 2013 Family 4 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F5-P9 PubMed: Nowilaty 2013 Family 5 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F5-P10 PubMed: Nowilaty 2013 Family 5 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F5-P11 PubMed: Nowilaty 2013 Family 5 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P14 PubMed: Nowilaty 2013 Family 8 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P15 PubMed: Nowilaty 2013 Family 8 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P16 PubMed: Nowilaty 2013 Family 8 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F8-P17 PubMed: Nowilaty 2013 Family 8 M - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F10-P19 PubMed: Nowilaty 2013 Family 10 F - - - - - - - 1 LOVD
+?/. - c.1066dup r.(?) p.(Gln356Profs*152) Both (homozygous) - likely pathogenic g.233388535dup g.232523825dup PRSS56: c.[1066dupC];[1066dupC], p.[Gln356ProfsX152];[Gln356ProfsX152] - PRSS56_000012 homozygous PubMed: Nowilaty 2013 - - Germline yes - - - - DNA SEQ blood - retinal disease F10-P20 PubMed: Nowilaty 2013 Family 10 M - - - - - - - 1 LOVD
+/. - c.1066dup r.(?) p.(Gln356ProfsTer152) Unknown - pathogenic g.233388535dup - PRSS56(NM_001195129.2):c.1066dup (p.(Gln356ProfsTer152)) - PRSS56_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #1 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat3 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #1 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat15 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Unknown ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat21 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Both (homozygous) ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat25 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
?/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #1 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat28 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Both (homozygous) ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat47 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #1 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat70 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #1 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat73 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Unknown ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat74 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #2 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat9 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #2 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat12 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #2 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat33 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #2 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat55 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #2 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat71 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+/. 9 c.1066dup r.(?) p.(Gln356ProfsTer152) Parent #2 ACMG pathogenic (recessive) g.233388535dup g.232523825dup - - PRSS56_000012 ACMG PVS1, PM2_sup, PM3 PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat79 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
+?/. - c.1066dupC r.(?) p.(Gln356Profs*152) Unknown - likely pathogenic g.233388535dup g.232523825dup PRSS56 c.1066dupC, p.Gln356fs (het) - PRSS56_000012 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 58/150520 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 1 PubMed: Guo 2019 Trio number 1 - - China Chinese - - - - 1 LOVD
+?/. - c.1066dupC r.(?) p.(Gln356Profs*152) Unknown - likely pathogenic g.233388535dup g.232523825dup PRSS60 c.1066dupC, p.Gln356fs (het) - PRSS56_000012 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 58/150520 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 4 PubMed: Guo 2019 Trio number 4 - - China Chinese - - - - 1 LOVD
+?/. - c.1066dupC r.(?) p.(Gln356Profs*152) Unknown - likely pathogenic g.233388535dup g.232523825dup PRSS58 c.1066dupC, p.Gln356fs (het) - PRSS56_000012 heterozygous PubMed: Guo 2019 - - Germline yes GnomAD: 58/150520 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 7 PubMed: Guo 2019 Trio number 7 - - China Chinese - - - - 1 LOVD
-?/. - c.1071G>T r.(?) p.(Glu357Asp) Unknown - likely benign g.233388540G>T g.232523830G>T PRSS56(NM_001195129.1):c.1071G>T (p.(Glu357Asp)) - CHRND_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1079del r.(?) p.(Ala360GlufsTer144) Parent #2 ACMG likely pathogenic (recessive) g.233388548del g.232523838del - - PRSS56_000046 ACMG PVS1, PM2_sup PubMed: Xu 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NNO Pat15 PubMed: Xu 2025 analysisis 105 cases with nanophthalmos - - China - - - - - 1 Johan den Dunnen
-?/. - c.1088C>T r.(?) p.(Ala363Val) Unknown - likely benign g.233388557C>T g.232523847C>T PRSS56(NM_001195129.1):c.1088C>T (p.A363V) - CHRND_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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