Full data view for gene PHYH

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006214.3 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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.9G>A r.(?) p.(Gln3=) Unknown - likely benign g.13342034C>T g.13300034C>T - - PHYH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36T>C r.(?) p.(Ile12=) Unknown - likely benign g.13342007A>G g.13300007A>G PHYH(NM_001323082.2):c.36T>C (p.I12=) - PHYH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76-8C>T r.(=) p.(=) Unknown - likely benign g.13340253G>A - PHYH(NM_001323080.2):c.-225-8C>T - PHYH_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.83A>G r.(?) p.(His28Arg) Unknown - likely benign g.13340238T>C g.13298238T>C PHYH(NM_006214.3):c.83A>G (p.H28R) - PHYH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.85C>T r.(?) p.(Pro29Ser) Unknown - benign g.13340236G>A g.13298236G>A PHYH(NM_006214.4):c.85C>T (p.P29S) - PHYH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.85C>T r.(?) p.(Pro29Ser) Unknown - benign g.13340236G>A g.13298236G>A PHYH(NM_006214.4):c.85C>T (p.P29S) - PHYH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126A>G r.(?) p.(Gln42=) Unknown - benign g.13340195T>C g.13298195T>C PHYH(NM_006214.3):c.126A>G (p.Q42=), PHYH(NM_006214.4):c.126A>G (p.Q42=) - PHYH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126A>G r.(?) p.(Gln42=) Unknown - likely benign g.13340195T>C g.13298195T>C PHYH(NM_006214.3):c.126A>G (p.Q42=), PHYH(NM_006214.4):c.126A>G (p.Q42=) - PHYH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.135-2A>G r.spl? p.? Unknown - pathogenic g.13337608T>C - PHYH(NM_001323080.1):c.-166-2A>G - PHYH_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i c.135-1G>C r.spl p.? Both (homozygous) - pathogenic g.13337607C>G g.13295607C>G - - PHYH_000021 - Sharon, submitted - - Germline - - - - - DNA SEQ - - Refsum - Sharon, submitted - M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+/. - c.135-1G>C r.spl p.? Unknown ACMG pathogenic g.13337607C>G - - - PHYH_000021 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
-/. - c.153C>T r.(?) p.(Asn51=) Unknown - benign g.13337588G>A g.13295588G>A PHYH(NM_006214.4):c.153C>T (p.N51=) - PHYH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.153C>T r.(?) p.(Asn51=) Unknown - benign g.13337588G>A g.13295588G>A PHYH(NM_006214.4):c.153C>T (p.N51=) - PHYH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>A r.(?) p.(Val52Ile) Unknown - likely benign g.13337587C>T g.13295587C>T - - PHYH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.290G>A r.(?) p.(Gly97Glu) Unknown - VUS g.13336552C>T g.13294552C>T PHYH(NM_006214.4):c.290G>A (p.G97E) - PHYH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321G>A r.(?) p.(Ser107=) Unknown - benign g.13336521C>T g.13294521C>T PHYH(NM_001037537.1):c.21G>A (p.S7=), PHYH(NM_001037537.2):c.21G>A (p.S7=), PHYH(NM_006214.4):c.321G>A (p.S107=) - PHYH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321G>A r.(?) p.(Ser107=) Unknown - likely benign g.13336521C>T g.13294521C>T PHYH(NM_001037537.1):c.21G>A (p.S7=), PHYH(NM_001037537.2):c.21G>A (p.S7=), PHYH(NM_006214.4):c.321G>A (p.S107=) - PHYH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321G>A r.(?) p.(Ser107=) Unknown - likely benign g.13336521C>T - PHYH(NM_001037537.1):c.21G>A (p.S7=), PHYH(NM_001037537.2):c.21G>A (p.S7=), PHYH(NM_006214.4):c.321G>A (p.S107=) - PHYH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356C>T r.(?) p.(Thr119Met) Unknown - VUS g.13336486G>A g.13294486G>A PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M) - PHYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356C>T r.(?) p.(Thr119Met) Unknown - VUS g.13336486G>A g.13294486G>A PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M) - PHYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356C>T r.(?) p.(Thr119Met) Unknown - VUS g.13336486G>A - PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M) - PHYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356C>T r.(?) p.(Thr119Met) Unknown - likely benign g.13336486G>A - PHYH(NM_001037537.2):c.56C>T (p.T19M), PHYH(NM_001323080.1):c.56C>T (p.T19M), PHYH(NM_006214.4):c.356C>T (p.T119M) - PHYH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357G>A r.(?) p.(Thr119=) Unknown - likely benign g.13336485C>T g.13294485C>T PHYH(NM_001037537.2):c.57G>A (p.T19=), PHYH(NM_001323080.2):c.57G>A (p.T19=) - PHYH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360G>A r.(?) p.(Lys120=) Unknown - likely benign g.13336482C>T - PHYH(NM_001323080.2):c.60G>A (p.K20=) - PHYH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403G>A r.(?) p.(Gly235Arg) Both (homozygous) - pathogenic g.13325815C>T g.13283815C>T - - PHYH_000041 - PubMed: Zhao 2015 - - Germline - - - - - DNA SEQ-NG - 86-gene panel retinal disease Rp58 PubMed: Zhao 2015 simplex case - - Northern Ireland - - - - - 1 LOVD
?/. - c.410C>T r.(?) p.(Pro137Leu) Unknown - VUS g.13336432G>A - PHYH(NM_001323080.1):c.110C>T (p.P37L) - PHYH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.415-11del r.(=) p.(=) Unknown - benign g.13333932del g.13291932del PHYH(NM_001037537.2):c.115-11delT - PHYH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.415-11dup r.(=) p.(=) Unknown - benign g.13333932dup g.13291932dup PHYH(NM_001037537.2):c.115-11dupT - PHYH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.496+6T>A r.(=) p.(=) Unknown - VUS g.13333825A>T - PHYH(NM_001323084.2):c.202T>A (p.C68S) - PHYH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506C>T r.(?) p.(Thr169Met) Unknown - VUS g.13330532G>A g.13288532G>A PHYH(NM_001323080.1):c.206C>T (p.T69M) - PHYH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.529G>A r.(?) p.(Asp177Asn) Both (homozygous) ACMG pathogenic (recessive) g.13330509C>T g.13288509C>T - - PHYH_000053 ACMG PP3, PM2, PM5, PM1, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-303 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
+?/. - c.530A>G r.(?) p.(Asp177Gly) Parent #1 - likely pathogenic g.13330508T>C g.13288508T>C PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G - PHYH_000047 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 647 PubMed: Weisschuh 2020 Filing key number: 233, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.530A>G r.(?) p.(Asp177Gly) Parent #1 - likely pathogenic g.13330508T>C g.13288508T>C PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G - PHYH_000047 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 648 PubMed: Weisschuh 2020 Filing key number: 233, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.567C>G r.(?) p.(Ile189Met) Unknown - VUS g.13330471G>C g.13288471G>C PHYH(NM_001323080.1):c.267C>G (p.I89M) - PHYH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568G>A r.(?) p.(Val190Ile) Unknown - VUS g.13330470C>T g.13288470C>T PHYH(NM_001037537.2):c.268G>A (p.V90I), PHYH(NM_001323080.1):c.268G>A (p.V90I) - PHYH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568G>A r.(?) p.(Val190Ile) Unknown - VUS g.13330470C>T g.13288470C>T PHYH(NM_001037537.2):c.268G>A (p.V90I), PHYH(NM_001323080.1):c.268G>A (p.V90I) - PHYH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574G>T r.(?) p.(Ala192Ser) Unknown - VUS g.13330464C>A g.13288464C>A PHYH(NM_001037537.2):c.274G>T (p.A92S), PHYH(NM_001323080.1):c.274G>T (p.A92S) - PHYH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574G>T r.(?) p.(Ala192Ser) Unknown - VUS g.13330464C>A - PHYH(NM_001037537.2):c.274G>T (p.A92S), PHYH(NM_001323080.1):c.274G>T (p.A92S) - PHYH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.581C>T r.(?) p.(Thr194Met) Unknown ACMG VUS g.13330457G>A g.13288457G>A PHYH c.581C>T, p.(Thr194Met) - PHYH_000052 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 30_35 PubMed: Zhu 2022 family 30, individual 35 M - - - - - - - 1 LOVD
?/. - c.601C>G r.(?) p.(Arg201Gly) Unknown - VUS g.13330437G>C g.13288437G>C PHYH(NM_001037537.1):c.301C>G (p.R101G), PHYH(NM_001037537.2):c.301C>G (p.R101G) - PHYH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.601C>G r.(?) p.(Arg201Gly) Unknown - VUS g.13330437G>C g.13288437G>C PHYH(NM_001037537.1):c.301C>G (p.R101G), PHYH(NM_001037537.2):c.301C>G (p.R101G) - PHYH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.636A>G r.(?) p.(Thr212=) Unknown - benign g.13330402T>C g.13288402T>C PHYH(NM_001037537.2):c.336A>G (p.T112=) - PHYH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.636A>G r.(?) p.(Thr212=) Unknown - benign g.13330402T>C g.13288402T>C PHYH(NM_001037537.2):c.336A>G (p.T112=) - PHYH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.636A>G r.(?) p.(Thr212=) Unknown - benign g.13330402T>C g.13288402T>C PHYH(NM_001037537.2):c.336A>G (p.T112=) - PHYH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.643G>A r.(?) p.(Gly215Ser) Unknown - benign g.13330395C>T g.13288395C>T PHYH(NM_001037537.2):c.343G>A (p.G115S), PHYH(NM_001323080.1):c.343G>A (p.G115S) - PHYH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.643G>A r.(?) p.(Gly215Ser) Unknown - benign g.13330395C>T g.13288395C>T PHYH(NM_001037537.2):c.343G>A (p.G115S), PHYH(NM_001323080.1):c.343G>A (p.G115S) - PHYH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.668C>G r.(?) p.(Pro223Arg) Maternal (confirmed) ACMG likely pathogenic g.13330370G>C g.13288370G>C - - PHYH_000002 - PubMed: de Castro-Miró 2016 - - Germline - - - - - DNA SEQ-NG-I Whole blood - Refsum 64ORG1 PubMed: de Castro-Miró 2016 - M no Argentina - - - - - 1 Marta de Castro-Miró
?/. - c.678+5G>T r.spl? p.? Unknown - VUS g.13330355C>A g.13288355C>A PHYH(NM_001037537.1):c.378+5G>T, PHYH(NM_001037537.2):c.378+5G>T, PHYH(NM_001323080.1):c.378+5G>T - PHYH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.678+5G>T r.spl? p.? Unknown - pathogenic (recessive) g.13330355C>A - 10:13330355C>A ENST00000263038.4:c.678+5G>T - PHYH_000026 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008151 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.678+5G>T r.spl? p.? Unknown - pathogenic g.13330355C>A - PHYH(NM_001037537.1):c.378+5G>T, PHYH(NM_001037537.2):c.378+5G>T, PHYH(NM_001323080.1):c.378+5G>T - PHYH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.678+5G>T r.spl p.(?) Unknown - likely pathogenic g.13330355C>A g.13288355C>A PHYH c.678+5G>T, - PHYH_000026 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008151 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.678+7C>T r.(=) p.(=) Unknown - likely benign g.13330353G>A g.13288353G>A PHYH(NM_001037537.1):c.378+7C>T - PHYH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.678+15C>T r.(=) p.(=) Unknown - benign g.13330345G>A g.13288345G>A PHYH(NM_001037537.1):c.378+15C>T, PHYH(NM_001037537.2):c.378+15C>T - PHYH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678+15C>T r.(=) p.(=) Unknown - likely benign g.13330345G>A g.13288345G>A PHYH(NM_001037537.1):c.378+15C>T, PHYH(NM_001037537.2):c.378+15C>T - PHYH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678+15C>T r.(=) p.(=) Unknown - likely benign g.13330345G>A g.13288345G>A PHYH(NM_001037537.1):c.378+15C>T, PHYH(NM_001037537.2):c.378+15C>T - PHYH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.679-14G>A r.(=) p.(=) Unknown - likely benign g.13325853C>T g.13283853C>T PHYH(NM_001037537.2):c.379-14G>A - PHYH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6i c.679-2A>C r.spl p.? Unknown - likely pathogenic g.13325841T>G g.13283841T>G - - PHYH_000042 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-340 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.679G>T r.(?) p.(Gly227Trp) Unknown - VUS g.13325839C>A g.13283839C>A PHYH(NM_001323080.1):c.379G>T (p.G127W), PHYH(NM_001323080.2):c.379G>T (p.G127W) - PHYH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679G>T r.(?) p.(Gly227Trp) Unknown - VUS g.13325839C>A - PHYH(NM_001323080.1):c.379G>T (p.G127W), PHYH(NM_001323080.2):c.379G>T (p.G127W) - PHYH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.683dup r.(?) p.(Val229Serfs*2) Paternal (confirmed) ACMG pathogenic g.13325840dup g.13283840dup - - PHYH_000001 - PubMed: de Castro-Miró 2016 - - Germline - - - - - DNA SEQ-NG-I Whole blood - Refsum 64ORG1 PubMed: de Castro-Miró 2016 - M no Argentina - - - - - 1 Marta de Castro-Miró
?/. - c.683G>A r.(?) p.(Gly228Glu) Unknown - VUS g.13325835C>T g.13283835C>T PHYH(NM_001037537.2):c.383G>A (p.G128E) - PHYH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.717C>T r.(?) p.(Tyr239=) Unknown - benign g.13325801G>A g.13283801G>A PHYH(NM_001037537.1):c.417C>T (p.Y139=), PHYH(NM_001037537.2):c.417C>T (p.Y139=) - PHYH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717C>T r.(?) p.(Tyr239=) Unknown - likely benign g.13325801G>A g.13283801G>A PHYH(NM_001037537.1):c.417C>T (p.Y139=), PHYH(NM_001037537.2):c.417C>T (p.Y139=) - PHYH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.734G>A r.(?) p.(Arg245Gln) Unknown - likely benign g.13325784C>T g.13283784C>T PHYH(NM_001037537.2):c.434G>A (p.R145Q), PHYH(NM_001323080.2):c.434G>A (p.R145Q), PHYH(NM_006214.4):c.734G>A (p.R245Q) - PHYH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.734G>A r.(?) p.(Arg245Gln) Unknown - likely benign g.13325784C>T - PHYH(NM_001037537.2):c.434G>A (p.R145Q), PHYH(NM_001323080.2):c.434G>A (p.R145Q), PHYH(NM_006214.4):c.734G>A (p.R245Q) - PHYH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734G>A r.(?) p.(Arg245Gln) Both (homozygous) - VUS g.13325784C>T g.13283784C>T - - PHYH_000007 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat5 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
?/. - c.734G>A r.(?) p.(Arg245Gln) Unknown - VUS g.13325784C>T g.13283784C>T - - PHYH_000007 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case72007 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. - c.734G>A r.(?) p.(Arg245Gln) Unknown - VUS g.13325784C>T g.13283784C>T - - PHYH_000007 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71133 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
-?/. - c.734G>A r.(?) p.(Arg245Gln) Unknown - likely benign g.13325784C>T - PHYH(NM_001037537.2):c.434G>A (p.R145Q), PHYH(NM_001323080.2):c.434G>A (p.R145Q), PHYH(NM_006214.4):c.734G>A (p.R245Q) - PHYH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760G>A r.(?) p.(Asp254Asn) Unknown - VUS g.13325758C>T - PHYH(NM_001323080.1):c.460G>A (p.D154N) - PHYH_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792C>T r.(?) p.(His264=) Unknown - likely benign g.13325726G>A g.13283726G>A PHYH(NM_001037537.1):c.492C>T (p.H164=) - PHYH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.823C>T r.(?) p.(Arg275Trp) Unknown - pathogenic g.13325695G>A g.13283695G>A - - PHYH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.823C>T r.(?) p.(Arg275Trp) Parent #1 - likely pathogenic g.13325695G>A g.13283695G>A - - PHYH_000004 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894178 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.823C>T r.(?) p.(Arg275Trp) Unknown - pathogenic (recessive) g.13325695G>A - 10:13325695G>A ENST00000263038.4:c.823C>T (Arg275Trp) - PHYH_000004 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008151 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.823C>T r.(?) p.(Arg275Trp) Unknown - likely pathogenic g.13325695G>A g.13283695G>A PHYH c.823C>T, p.Arg275Trp - PHYH_000004 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008151 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.829-3C>A r.spl? p.? Unknown - VUS g.13323113G>T g.13281113G>T PHYH(NM_001037537.2):c.529-3C>A, PHYH(NM_001323080.2):c.529-3C>A - PHYH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.830C>A r.(?) p.(Ala277Glu) Parent #1 - likely pathogenic g.13323109G>T g.13281109G>T PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G - PHYH_000046 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 647 PubMed: Weisschuh 2020 Filing key number: 233, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.830C>A r.(?) p.(Ala277Glu) Parent #1 - likely pathogenic g.13323109G>T g.13281109G>T PHYH, variant 1: c.830C>A/p.A277E, variant 2: c.530A>G/p.D177G - PHYH_000046 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 648 PubMed: Weisschuh 2020 Filing key number: 233, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.856G>A r.(?) p.(Asp286Asn) Unknown - VUS g.13323083C>T - PHYH(NM_001323080.1):c.556G>A (p.D186N) - PHYH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.913G>A r.(?) p.(Val305Ile) Unknown - likely benign g.13323026C>T - PHYH(NM_006214.3):c.913G>A (p.(Val305Ile)) - PHYH_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.948T>C r.(?) p.(Asn316=) Unknown - benign g.13322991A>G g.13280991A>G PHYH(NM_001037537.2):c.648T>C (p.N216=) - PHYH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.950G>A r.(?) p.(Ser317Asn) Unknown - likely benign g.13322989C>T - PHYH(NM_001323080.1):c.650G>A (p.S217N) - PHYH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.951dup r.(?) p.(Val318ArgfsTer24) Unknown - likely pathogenic g.13322988dup g.13280988dup PHYH(NM_001037537.2):c.651dupC (p.V218Rfs*24) - PHYH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.964-18G>C r.(=) p.(=) Unknown - likely benign g.13320372C>G - PHYH(NM_001323080.2):c.664-18G>C - PHYH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010_1012dup r.(?) p.(Asn337_Leu338insHis) Unknown - likely benign g.13320306_13320308dup g.13278306_13278308dup PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC... - PHYH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010_1012dup r.(?) p.(Asn337_Leu338insHis) Unknown - likely benign g.13320306_13320308dup g.13278306_13278308dup PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC... - PHYH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1010_1012dup r.(?) p.(Asn337_Leu338insHis) Unknown - VUS g.13320306_13320308dup g.13278306_13278308dup PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC... - PHYH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010_1012dup r.(?) p.(Asn337_Leu338insHis) Unknown - likely benign g.13320306_13320308dup - PHYH(NM_001037537.1):c.710_712dupATC (p.N237_L238insH), PHYH(NM_001037537.2):c.710_712dupATC (p.N237_L238insH), PHYH(NM_006214.4):c.1010_1012dupATC... - PHYH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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