Full data view for gene PITPNM3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_031220.3 transcript reference sequence.

146 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     
-/. 16 c.? r.(?) p.? Unknown - benign g.6367538G>A - c.2108C>T - PITPNM3_000055 - PubMed: Bowne 2011 - - Germline - - - - - DNA SEQ, SEQ-NG-S Lymphoblast - retinal disease - PubMed: Bowne 2011 - - no - white - - - - 1 LOVD
-?/. - c.16C>T r.(?) p.(Arg6Cys) Unknown - likely benign g.6459711G>A - PITPNM3(NM_031220.3):c.16C>T (p.R6C) - PITPNM3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16C>T r.(?) p.(Arg6Cys) Unknown ACMG VUS g.6459711G>A g.6556391G>A - - PITPNM3_000040 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-426 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
-?/. - c.22+15G>C r.(=) p.(=) Unknown - likely benign g.6459690C>G g.6556370C>G PITPNM3(NM_031220.4):c.22+15G>C - PITPNM3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42C>T r.(?) p.(Gly14=) Unknown - likely benign g.6441383G>A g.6538063G>A PITPNM3(NM_031220.3):c.42C>T (p.G14=) - PITPNM3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.55C>T r.(?) p.(His19Tyr) Unknown ACMG VUS g.6441370G>A - - - PITPNM3_000054 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_GS_0033 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
-?/. - c.62G>A r.(?) p.(Arg21Gln) Unknown - likely benign g.6441363C>T g.6538043C>T PITPNM3(NM_031220.3):c.62G>A (p.R21Q) - PITPNM3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176A>G r.(?) p.(Asn59Ser) Unknown ACMG VUS g.6428726T>C g.6525406T>C - - PITPNM3_000075 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? OAK-717 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-?/. - c.201C>T r.(?) p.(Thr67=) Unknown - likely benign g.6428701G>A g.6525381G>A PITPNM3(NM_031220.4):c.201C>T (p.T67=) - PITPNM3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>T r.(?) p.(Asp72=) Unknown - likely benign g.6428686G>A g.6525366G>A PITPNM3(NM_031220.3):c.216C>T (p.D72=), PITPNM3(NM_031220.4):c.216C>T (p.D72=) - PITPNM3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>T r.(?) p.(Asp72=) Unknown - likely benign g.6428686G>A - PITPNM3(NM_031220.3):c.216C>T (p.D72=), PITPNM3(NM_031220.4):c.216C>T (p.D72=) - PITPNM3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.226+9C>G r.(=) p.(=) Unknown - benign g.6428667G>C g.6525347G>C PITPNM3(NM_031220.4):c.226+9C>G - PITPNM3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.238G>A r.(?) p.(Ala80Thr) Unknown - benign g.6406883C>T g.6503563C>T PITPNM3(NM_031220.4):c.238G>A (p.A80T) - PITPNM3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.239C>T r.(?) p.(Ala80Val) Unknown - VUS g.6406882G>A g.6503562G>A C239T - PITPNM3_000053 - PubMed: Katagiri 2014 - rs144918108 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#007 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+/. - c.274C>T r.(?) p.(Arg92*) Unknown - pathogenic g.6406847G>A - - - PITPNM3_000041 - PubMed: Wang 2018 - - De novo - - - - - DNA SEQ blood WES ? AVM306 PubMed: Wang 2013 2-generation family, 1 affected, unaffected non-carrier parents F - China Han ? - - - 1 Mariah De Bruin
?/. - c.287G>A r.(?) p.(Arg96Gln) Unknown - VUS g.6387600C>T g.6484280C>T PITPNM3(NM_031220.3):c.287G>A (p.R96Q), PITPNM3(NM_031220.4):c.287G>A (p.R96Q) - PITPNM3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287G>A r.(?) p.(Arg96Gln) Unknown - likely benign g.6387600C>T - PITPNM3(NM_031220.3):c.287G>A (p.R96Q), PITPNM3(NM_031220.4):c.287G>A (p.R96Q) - PITPNM3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.296T>C r.(?) p.(Leu99Ser) Unknown - VUS g.6387591A>G g.6484271A>G T296C - PITPNM3_000052 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-?/. - c.330C>T r.(?) p.(Ile110=) Unknown - likely benign g.6387557G>A g.6484237G>A PITPNM3(NM_031220.3):c.330C>T (p.I110=), PITPNM3(NM_031220.4):c.330C>T (p.I110=) - PITPNM3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>T r.(?) p.(Ile110=) Unknown - likely benign g.6387557G>A g.6484237G>A PITPNM3(NM_031220.3):c.330C>T (p.I110=), PITPNM3(NM_031220.4):c.330C>T (p.I110=) - PITPNM3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334A>G r.(?) p.(Ile112Val) Unknown - VUS g.6387553T>C - PITPNM3(NM_031220.3):c.334A>G (p.I112V) - PITPNM3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.339C>T r.(?) p.(=) Unknown - likely benign g.6387548G>A - PITPNM3(NM_031220.4):c.339C>T (p.H113=) - PITPNM3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - likely benign g.6387538C>T - PITPNM3(NM_031220.3):c.349G>A (p.E117K) - PITPNM3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351+15G>A r.(=) p.(=) Unknown - likely benign g.6387521C>T g.6484201C>T PITPNM3(NM_031220.4):c.351+15G>A - PITPNM3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432C>T r.(?) p.(Ala144=) Unknown - benign g.6386992G>A - PITPNM3(NM_031220.4):c.432C>T (p.A144=) - PITPNM3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477C>T r.(?) p.(Ser159=) Both (homozygous) - likely benign g.6386947G>A g.6483627G>A - - PITPNM3_000048 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs34897053 Germline - - - - - DNA SEQ WBC - retinal disease PKRD176;61176 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - M yes Pakistan Pakistani - - - - 1 James Hejtmancik
?/. - c.503A>G r.(?) p.(His168Arg) Unknown ACMG VUS g.6386921T>C g.6483601T>C PITPNM3:NM_031220 c.A503G, p.H168R - PITPNM3_000065 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-317 PubMed: Rodriguez-Munoz 2020 family fRPN-153, proband F - Spain - - - - - 1 LOVD
?/. - c.527T>C r.(?) p.(Ile176Thr) Parent #1 ACMG VUS g.6386897A>G g.6483577A>G - - PITPNM3_000074 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-477 PubMed: Weisschuh 2024 family, 3 affected M - Germany - - - - - 3 Johan den Dunnen
-?/. - c.576G>A r.(?) p.(Ser192=) Unknown - likely benign g.6386848C>T g.6483528C>T PITPNM3(NM_031220.3):c.576G>A (p.S192=) - PITPNM3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.687C>G r.(?) p.(Tyr229*) Unknown - likely pathogenic g.6381957G>C g.6478637G>C PITPNM3:NM_001165966:exon6:c.579C>G:p.Y193X - PITPNM3_000063 different transcript: NM_001165966.1(PITPNM3):c.579C>G, p.Y193X; heterozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F28-II-3 PubMed: Chen 2020 - M - Taiwan - - - - - 1 LOVD
-?/. - c.699C>T r.(?) p.(Val233=) Unknown - likely benign g.6381945G>A g.6478625G>A PITPNM3(NM_031220.3):c.699C>T (p.V233=) - PITPNM3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700G>A r.(?) p.(Ala234Thr) Unknown - VUS g.6381944C>T g.6478624C>T PITPNM3(NM_031220.3):c.700G>A (p.A234T) - PITPNM3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.747G>A r.(?) p.(Lys249=) Unknown - likely benign g.6381897C>T g.6478577C>T PITPNM3(NM_031220.4):c.747G>A (p.K249=) - PITPNM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.775C>A r.(?) p.(Gln259Lys) Unknown - VUS g.6381869G>T - PITPNM3(NM_031220.3):c.775C>A (p.Q259K) - PITPNM3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789C>T r.(?) p.(Ile263=) Unknown - likely benign g.6381406G>A - PITPNM3(NM_031220.3):c.789C>T (p.I263=) - PITPNM3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.838G>A r.(?) p.(Ala280Thr) Unknown - likely benign g.6381357C>T - PITPNM3(NM_031220.4):c.838G>A (p.A280T) - PITPNM3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849A>G r.(?) p.(Ser283=) Unknown - benign g.6381346T>C g.6478026T>C PITPNM3(NM_031220.3):c.849A>G (p.S283=), PITPNM3(NM_031220.4):c.849A>G (p.S283=) - PITPNM3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849A>G r.(?) p.(Ser283=) Unknown - likely benign g.6381346T>C g.6478026T>C PITPNM3(NM_031220.3):c.849A>G (p.S283=), PITPNM3(NM_031220.4):c.849A>G (p.S283=) - PITPNM3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879G>A r.(?) p.(=) Unknown - likely benign g.6381316C>T - PITPNM3(NM_031220.4):c.879G>A (p.K293=) - PITPNM3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.900+60C>T r.(?) p.(=) Unknown - VUS g.6381235G>A g.6477915G>A - - PITPNM3_000045 not in 95 controls PubMed: Köhn 2010 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Köhn 2010 - - - Sweden - - - - - 1 Johan den Dunnen
?/. - c.901-45G>A r.(?) p.(=) Unknown - VUS g.6380578C>T g.6477258C>T - - PITPNM3_000044 - PubMed: Köhn 2010 - - Germline - - - - - DNA SEQ - - retinal disease patient PubMed: Köhn 2010 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.901-9G>A r.(=) p.(=) Unknown - likely benign g.6380542C>T - PITPNM3(NM_031220.3):c.901-9G>A - PITPNM3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.914C>T r.(?) p.(Ala305Val) Unknown - likely benign g.6380520G>A - PITPNM3(NM_031220.4):c.914C>T (p.A305V) - PITPNM3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987G>A r.(?) p.(Leu329=) Unknown - likely benign g.6380447C>T g.6477127C>T PITPNM3(NM_031220.3):c.987G>A (p.L329=), PITPNM3(NM_031220.4):c.987G>A (p.L329=) - PITPNM3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987G>A r.(?) p.(Leu329=) Unknown - likely benign g.6380447C>T - PITPNM3(NM_031220.3):c.987G>A (p.L329=), PITPNM3(NM_031220.4):c.987G>A (p.L329=) - PITPNM3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1016C>G r.(?) p.(Pro339Arg) Unknown - likely benign g.6380418G>C - PITPNM3(NM_031220.4):c.1016C>G (p.P339R) - PITPNM3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1025A>C r.(?) p.(Gln342Pro) Unknown - pathogenic (dominant) g.6380409T>G g.6468237C>G - - PITPNM3_000043 - PubMed: Köhn 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease FamGer PubMed: Köhn 2010 patient - - Germany - - - - - 1 Johan den Dunnen
?/. - c.1057A>G r.(?) p.(Ile353Val) Unknown - VUS g.6380377T>C g.6477057T>C PITPNM3(NM_031220.3):c.1057A>G (p.I353V) - PITPNM3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1085+8del r.(=) p.(=) Unknown - likely benign g.6380344del g.6477024del PITPNM3(NM_031220.3):c.1085+8delC - PITPNM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1125G>A r.(?) p.(=) Unknown - likely benign g.6377885C>T - PITPNM3(NM_031220.4):c.1125G>A (p.P375=) - PITPNM3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128G>A r.(?) p.(Ala376=) Unknown - likely benign g.6377882C>T g.6474562C>T PITPNM3(NM_031220.3):c.1128G>A (p.A376=), PITPNM3(NM_031220.4):c.1128G>A (p.A376=) - PITPNM3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128G>A r.(?) p.(Ala376=) Unknown - likely benign g.6377882C>T - PITPNM3(NM_031220.3):c.1128G>A (p.A376=), PITPNM3(NM_031220.4):c.1128G>A (p.A376=) - PITPNM3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1139C>T r.(?) p.(Pro380Leu) Unknown - likely benign g.6377871G>A - PITPNM3(NM_031220.3):c.1139C>T (p.(Pro380Leu)) - PITPNM3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1179T>C r.(?) p.(Asp393=) Unknown - likely benign g.6377831A>G - PITPNM3(NM_031220.4):c.1179T>C (p.D393=) - PITPNM3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1308C>T r.(?) p.(Cys436=) Unknown - benign g.6376098G>A g.6472778G>A PITPNM3(NM_031220.4):c.1308C>T (p.C436=) - PITPNM3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1395G>C r.(?) p.(Arg465Ser) Unknown - VUS g.6376011C>G - c.1395G>C - PITPNM3_000056 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - - - - - - - - 1 LOVD
-/. - c.1477C>T r.(?) p.(Arg493Trp) Unknown - benign g.6374628G>A - PITPNM3(NM_031220.4):c.1477C>T (p.R493W) - PITPNM3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1512G>A r.(?) p.(Ser504=) Unknown - benign g.6374593C>T g.6471273C>T PITPNM3(NM_031220.4):c.1512G>A (p.S504=) - PITPNM3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1538G>A r.(?) p.(Arg513His) Unknown - benign g.6374567C>T g.6471247C>T PITPNM3(NM_031220.4):c.1538G>A (p.R513H) - PITPNM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584G>A r.(?) p.(Ser528=) Unknown - likely benign g.6374521C>T - PITPNM3(NM_031220.4):c.1584G>A (p.S528=) - PITPNM3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1593G>A r.(?) p.(Ser531=) Unknown - likely benign g.6374512C>T - PITPNM3(NM_031220.4):c.1593G>A (p.S531=) - PITPNM3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1599C>T r.(?) p.(Ser533=) Unknown - likely benign g.6374506G>A g.6471186G>A PITPNM3(NM_031220.3):c.1599C>T (p.S533=) - PITPNM3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.1601T>A r.(?) p.(Met534Lys) Unknown - VUS g.6374504A>T g.6471184A>T T1601A - PITPNM3_000051 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#022 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.1656C>G r.(?) p.(Ile552Met) Unknown - VUS g.6373697G>C g.6470377G>C - - PITPNM3_000049 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71522 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. - c.1657_1660dup r.(?) p.(Tyr554*) Parent #1 - likely pathogenic g.6373693_6373696dup g.6470373_6470376dup PITPNM3, variant 1: c.1657_1660dup/p.Y554* - PITPNM3_000066 possibly solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 1017 PubMed: Weisschuh 2020 Filing key number: 491, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.1671C>T r.(?) p.(Tyr557=) Unknown - VUS g.6373682G>A g.6470362G>A - - PITPNM3_000047 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat9 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
-?/. - c.1683C>T r.(?) p.(Val561=) Unknown - likely benign g.6373670G>A g.6470350G>A PITPNM3(NM_031220.3):c.1683C>T (p.V561=) - PITPNM3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1688C>T r.(?) p.(Thr563Met) Parent #1 - VUS g.6373665G>A g.6470345G>A - - PITPNM3_000037 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139119218 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.1688C>T r.(?) p.(Thr563Met) Unknown ACMG VUS g.6373665G>A g.6470345G>A PITPNM3 c.1688C>T, p.(Thr563Met) - PITPNM3_000037 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 438 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.1688C>T r.(?) p.(Thr563Met) Unknown ACMG VUS g.6373665G>A g.6470345G>A PITPNM3:NM_031220 c.C1688T, p.T563M - PITPNM3_000037 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-520 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.1688C>T r.(?) p.(Thr563Met) Unknown ACMG VUS g.6373665G>A g.6470345G>A PITPNM3:NM_031220 c.C1688T, p.T563M - PITPNM3_000037 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-363 PubMed: Rodriguez-Munoz 2020 family fRPN-178, proband M - Spain - - - - - 1 LOVD
-?/. - c.1701C>T r.(?) p.(Thr567=) Unknown - likely benign g.6373652G>A - PITPNM3(NM_031220.3):c.1701C>T (p.T567=) - PITPNM3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1726G>A r.(?) p.(Ala576Thr) Unknown ACMG VUS g.6373627C>T g.6470307C>T PITPNM3:NM_031220 c.G1726A, p.A576T - PITPNM3_000064 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-407 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-?/. - c.1878G>C r.(?) p.(Gln626His) Unknown - likely benign g.6371557C>G g.6468237C>G PITPNM3(NM_031220.3):c.1878G>C (p.Q626H), PITPNM3(NM_031220.4):c.1878G>C (p.Q626H) - PITPNM3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1878G>C r.(?) p.(Gln626His) Unknown - likely benign g.6371557C>G g.6468237C>G PITPNM3(NM_031220.3):c.1878G>C (p.Q626H), PITPNM3(NM_031220.4):c.1878G>C (p.Q626H) - PITPNM3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP, SEQ blood - CORD5 Fam151Pat18 PubMed: Balciuniene 1995, PubMed: Reinis 2012 5-generation family, 22 affected M - Sweden - >12y - - - 22 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat17 PubMed: Reinis 2012 - M - Sweden - >25y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat16 PubMed: Reinis 2012 - M - Sweden - >35y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat15 PubMed: Reinis 2012 - F - Sweden - >26y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat14 PubMed: Reinis 2012 - F - Sweden - >32y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat13 PubMed: Reinis 2012 - F - Sweden - >32y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat12 PubMed: Reinis 2012 - F - Sweden - >46y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat11 PubMed: Reinis 2012 - M - Sweden - >32y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat10 PubMed: Reinis 2012 - M - Sweden - >27y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat9 PubMed: Reinis 2012 - F - Sweden - >44y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat8 PubMed: Reinis 2012 - M - Sweden - >53y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat7 PubMed: Reinis 2012 - F - Sweden - >72y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat6 PubMed: Reinis 2012 - M - Sweden - >51y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat5 PubMed: Reinis 2012 - F - Sweden - >60y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat4 PubMed: Reinis 2012 - F - Sweden - >64y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat3 PubMed: Reinis 2012 - M - Sweden - >69y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat2 PubMed: Reinis 2012 - F - Sweden - >71y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam151Pat1 PubMed: Reinis 2012 - F - Sweden - >75y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP, SEQ blood - CORD5 Fam152Pat17 PubMed: Reinis 2012 7-generation family, 17 affected F - Sweden - >21y - - - 17 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam152Pat16 PubMed: Reinis 2012 - M - Sweden - >17y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam152Pat15 PubMed: Reinis 2012 - F - Sweden - >22y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam152Pat14 PubMed: Reinis 2012 - M - Sweden - >08y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam152Pat13 PubMed: Reinis 2012 - M - Sweden - >32y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam152Pat12 PubMed: Reinis 2012 - M - Sweden - >35y - - - 1 Mariah De Bruin
+/. 14 c.1878G>C r.(?) p.(Gln626His) Parent #1 - pathogenic (dominant) g.6371557C>G g.6468237C>G - - PITPNM3_000023 - PubMed: Reinis 2012 - - Germline yes - - - - DNA PCR, RFLP blood - CORD5 Fam152Pat11 PubMed: Reinis 2012 - F - Sweden - >28y - - - 1 Mariah De Bruin
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