Full data view for gene AIPL1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014336.3 transcript reference sequence.

829 entries on 9 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 1i c.-106C>A r.(?) p.(=) Parent #1 - likely benign g.6338530G>T g.6435210G>T 1-106C>A IVS1-106C>A - AIPL1_000005 homozygous SNP PubMed: Tan 2012 - - Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-?/. 1i c.-106C>A r.(?) p.(=) Parent #2 - likely benign g.6338530G>T g.6435210G>T 1-106C>A IVS1-106C>A - AIPL1_000005 homozygous SNP PubMed: Tan 2012 - rs7211442 Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-/. - c.-17C>A r.(?) p.(=) Unknown - benign g.6338441G>T g.6435121G>T AIPL1(NM_014336.5):c.-17C>A - AIPL1_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_-1)_(276+1_277-1)del r.(?) p.(?) Unknown ACMG likely pathogenic g.? g.? AIPL1 c.(?_-1) _(276+1_277-1)del, c.815G>C, p.(Arg272Pro) - MYH2_000008 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 39 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic (recessive) g.? - AF148864:717T>C, TGC?CGC AIPL1 Cys239Arg - MYH2_000008 - PubMed: Sohocki 2001 - - Germline - - - - - DNA SSCA, SEQ - - retinal disease - PubMed: Sohocki 2001 - - - - - - - - - 1 Julia Lopez
-?/. - c.? r.(?) p.? Parent #1 - likely benign g.? - AF148864:111T>C (TTT?TTC) Phe37Phe - MYH2_000008 - PubMed: Sohocki 2001 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.? r.(?) p.? Parent #1 - likely benign g.? - AF148864:287C>T (TGC?TGT) Cys89Cys - MYH2_000008 - PubMed: Sohocki 2001 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.? r.(?) p.? Parent #1 - likely benign g.? - AF148864:300G>A (CTG?CTA) Leu100Leu - MYH2_000008 - PubMed: Sohocki 2001 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.? r.(?) p.? Parent #1 - likely benign g.? - AF148864:651G>A (CCG?CCA) Pro217Pro - MYH2_000008 - PubMed: Sohocki 2001 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - c.A466T p.K156X - MYH2_000008 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam3 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - c.G722T p.E258X - MYH2_000008 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam4 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+?/. 6 c.? r.(?) p.? Unknown - likely pathogenic g.6319593C>T - c.10342G>A - AIPL1_000000 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F no Germany - - - - - 1 LOVD
+?/. - c.? r.(?) p.Val33fs Parent #1 - likely pathogenic g.? - p.Val33fs - MYH2_000008 - PubMed: Jacobson 2011 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Jacobson 2011 - F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.Leu241del Parent #1 - likely pathogenic g.? - p.Leu241del - MYH2_000008 - PubMed: Jacobson 2011 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Jacobson 2011 - M - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.Leu241del Parent #1 - likely pathogenic g.? - p.Leu241del - MYH2_000008 - PubMed: Jacobson 2011 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Jacobson 2011 - F - - - - - - - 1 LOVD
+?/. - c.34dup r.(?) p.(Val12Glyfs*32) Parent #1 - likely pathogenic g.6338394dup g.6435074dup AIPL1, variant 1: c.34dup/p.V12Gfs*32, variant 2: c.238C>T/p.R80W - AIPL1_000209 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 22 PubMed: Weisschuh 2020 Filing key number: 12, Leber congenital amaurosis, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 1 c.50T>C r.(?) p.(Leu17Pro) Parent #1 - pathogenic g.6338375A>G g.6435055A>G Leu17Pro - AIPL1_000019 compound heterozygous missense variant PubMed: Pennesi 2011 - - Germline - - - - - DNA PCR, SEQ - - LCA - - - M no Viet Nam Vietnamese - - - - 1 Raheel Qamar
+/. 1 c.50T>C r.(?) p.(Leu17Pro) Parent #1 - pathogenic g.6338375A>G g.6435055A>G Leu17Pro - AIPL1_000019 compound heterozygous missense variant PubMed: Pennesi 2011 - - Germline - - - - - DNA PCR, SEQ - - LCA - - - M no Viet Nam Vietnamese - - - - 1 Raheel Qamar
+/. 1 c.50T>C r.(?) p.(Leu17Pro) Both (homozygous) - pathogenic g.6338375A>G - c.50T>C - AIPL1_000019 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - F ? Turkey - - - - - 1 LOVD
+?/. - c.50T>C r.(?) p.(Leu17Pro) Parent #1 - likely pathogenic g.6338375A>G g.6435055A>G AIPL1, variant 1: c.50T>C/p.L17P, variant 2: c.50T>C/p.L17P - AIPL1_000019 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 792 PubMed: Weisschuh 2020 Filing key number: 311, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 1 c.50T>C r.(?) p.(Leu17Pro) Parent #1 - likely pathogenic g.6338375A>G - p.Leu17Pro - AIPL1_000019 - PubMed: Pennesi 2011 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Pennesi 2011 - M no - Vietnamese - - - - 1 LOVD
+?/. 1 c.50T>C r.(?) p.(Leu17Pro) Parent #1 - likely pathogenic g.6338375A>G - p.Leu17Pro - AIPL1_000019 - PubMed: Pennesi 2011 - - Germline - - - - - DNA SEQ-NG, SEQ - - retinal disease - PubMed: Pennesi 2011 - M no - Vietnamese - - - - 1 LOVD
-?/. 1 c.51G>A r.(?) p.(=) Parent #1 - likely benign g.6338374C>T g.6435054C>T - - AIPL1_000023 homozygous missense variant PubMed: Tan 2012 - - Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-?/. 1 c.51G>A r.(?) p.(=) Parent #2 - likely benign g.6338374C>T g.6435054C>T - - AIPL1_000023 homozygous missense variant PubMed: Tan 2012 - - Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-?/. - c.86C>A r.(?) p.(Thr29Asn) Unknown - likely benign g.6338339G>T - AIPL1(NM_014336.4):c.86C>A (p.T29N) - AIPL1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.97-16C>T r.(?) p.(=) Parent #1 - likely benign g.6337434G>A g.6434114G>A - - AIPL1_000031 homozygous splice site variant PubMed: Tan 2012 - - Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-?/. 2i c.97-16C>T r.(?) p.(=) Parent #2 - likely benign g.6337434G>A g.6434114G>A - - AIPL1_000031 homozygous splice site variant PubMed: Tan 2012 - - Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-?/. - c.97-15C>T r.(=) p.(=) Unknown - likely benign g.6337433G>A g.6434113G>A AIPL1(NM_014336.5):c.97-15C>T - AIPL1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.97-9G>A r.(?) p.(=) Parent #1 - benign g.6337427C>T g.6434107C>T IVS1-9 G>A - AIPL1_000029 SNP PubMed: Sohocki 2000 - - Germline - - - - - DNA SSCA, SEQ, PCR - - ? - - - - - - - - - - - 1 Raheel Qamar
-/. 1i c.97-9G>A r.(?) p.(=) Parent #2 - benign g.6337427C>T g.6434107C>T IVS1-9 G>A - AIPL1_000029 SNP PubMed: Sohocki 2000 - - Germline - - - - - DNA SSCA, SEQ, PCR - - ? - - - - - - - - - - - 1 Raheel Qamar
-/. - c.97-9G>A r.(=) p.(=) Unknown - benign g.6337427C>T g.6434107C>T AIPL1(NM_014336.4):c.97-9G>A, AIPL1(NM_014336.5):c.97-9G>A - AIPL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97-9G>A r.(=) p.(=) Unknown - likely benign g.6337427C>T g.6434107C>T AIPL1(NM_014336.4):c.97-9G>A, AIPL1(NM_014336.5):c.97-9G>A - AIPL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.97_104dup r.(?) p.(Phe35Leufs*2) Parent #1 - pathogenic g.6337411_6337418dup g.6434091_6434098dup 96_97insGTGATCTT - AIPL1_000025 missense variant PubMed: Testa 2011 - - Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 2 c.97_104dup r.(?) p.(Phe35Leufs*2) Parent #1 - pathogenic g.6337411_6337418dup g.6434091_6434098dup 96_97insGTGATCTT - AIPL1_000025 missense variant PubMed: Testa 2011 - - Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 2 c.97_104dup r.(spl?) p.(Phe35Leufs*2) Parent #2 - pathogenic g.6337411_6337418dup g.6434091_6434098dup 96_97insGTGATCTT - AIPL1_000025 compound heterozygous deleterious variant PubMed: Testa 2011 - - Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. - c.97_104dup r.(?) p.(Phe35Leufs*2) Both (homozygous) ACMG pathogenic g.6337411_6337418dup g.6434091_6434098dup AIPL1:NM_014336 c.97_104dup, p.(Phe35Leufs*2) - AIPL1_000025 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-104 PubMed: Rodriguez-Munoz 2020 family fRPN-38, proband F - Spain - - - - - 1 LOVD
+/. - c.97_104dup r.(?) p.(Phe35Leufs*2) Both (homozygous) ACMG pathogenic g.6337411_6337418dup g.6434091_6434098dup c.97_104dup; p.(Phe35Leufs*2) - AIPL1_000025 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RPN-532 PubMed: Rodriguez-Munoz 2020 family fRPN-38, family member M - Spain - - - - - 1 LOVD
?/. - c.98T>C r.(?) p.(Val33Ala) Unknown - VUS g.6337417A>G - AIPL1(NM_014336.5):c.98T>C (p.(Val33Ala)) - AIPL1_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.99del r.(?) p.(Ile34Serfs*7) Unknown ACMG pathogenic g.6337416del - - - AIPL1_000187 - 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
-/. 2 c.111C>T r.(?) p.(=) Parent #1 - benign g.6337404G>A g.6434084G>A TTT>TTC - AIPL1_000033 polymorphisms silent substitution PubMed: Sohocki 2000 - rs11650007 Germline - - - - - DNA SSCA, SEQ, PCR - - ? - - - - - - - - - - - 1 Raheel Qamar
-/. 2 c.111C>T r.(?) p.(=) Parent #2 - benign g.6337404G>A g.6434084G>A TTT>TTC - AIPL1_000033 polymorphisms silent substitution PubMed: Sohocki 2000 - rs11650007 Germline - - - - - DNA SSCA, SEQ, PCR - - ? - - - - - - - - - - - 1 Raheel Qamar
-?/. 2 c.111C>T r.(?) p.(=) Parent #1 - likely benign g.6337404G>A g.6434084G>A - - AIPL1_000033 homozygous SNP PubMed: Tan 2012 - rs11650007 Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-?/. 2 c.111C>T r.(?) p.(=) Parent #2 - likely benign g.6337404G>A g.6434084G>A - - AIPL1_000033 homozygous SNP PubMed: Tan 2012 - rs11650007 Unknown - - - - - DNA arraySNP, SEQ, PCR - - Healthy/Control - - - ? ? - - - - - - 1 Raheel Qamar
-/. - c.111C>T r.(?) p.(Phe37=) Unknown - benign g.6337404G>A - - - AIPL1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.112del r.(?) p.(Arg38Alafs*3) Parent #1 - likely pathogenic g.6337404del g.6434084del 111delC - AIPL1_000035 homozygous frameshift variant PubMed: Vallespin 2007  - - Germline - - - - - DNA arraySNP, DHPLC, SEQ - - LCA - - - ? ? Spain - - - - - 1 Raheel Qamar
+?/. 2 c.112del r.(?) p.(Arg38Alafs*3) Parent #2 - likely pathogenic g.6337404del g.6434084del 111delC - AIPL1_000035 homozygous frameshift variant PubMed: Vallespin 2007  - - Germline - - - - - DNA arraySNP, DHPLC, SEQ - - LCA - - - ? ? Spain - - - - - 1 Raheel Qamar
+?/. 2 c.112del r.(?) p.(Arg38Alafs*3) Parent #1 - likely pathogenic g.6337404del g.6434084del 111delC - AIPL1_000035 homozygous frameshift variant PubMed: Vallespin 2007  - - Germline - - - - - DNA arraySNP, DHPLC, SEQ - - LCA - - - ? ? Spain - - - - - 1 Raheel Qamar
+?/. 2 c.112del r.(?) p.(Arg38Alafs*3) Parent #2 - likely pathogenic g.6337404del g.6434084del 111delC - AIPL1_000035 homozygous frameshift variant PubMed: Vallespin 2007  - - Germline - - - - - DNA arraySNP, DHPLC, SEQ - - LCA - - - ? ? Spain - - - - - 1 Raheel Qamar
+?/. 2 c.112del r.(?) p.(Arg38Alafs*3) Unknown - likely pathogenic g.6337404del g.6434084del RDH12 Ex.5 c.295C>A p.(Leu99Ile), Ex.5 c.295C>A p.(Leu99Ile), AIPL1 : Ex.2 c.112del p.(Arg38Alafs*3) - AIPL1_000035 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-0995 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Paternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Maternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Paternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Maternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Paternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Maternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Paternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Maternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Paternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Maternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Paternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Maternal (confirmed) - pathogenic g.6337399G>T g.6434079G>T C>A 116 - AIPL1_000041 homozygous missense variant PubMed: Khaliq 2002 - - Germline - - - - - DNA PCR, SEQ, DHPLC - - retinal disease - - 4 generation family, 6 affected, 5 carriers - yes Pakistan Pakistani - - - - 1 Raheel Qamar
+?/. 2 c.116C>A r.(?) p.(Thr39Asn) Both (homozygous) - likely pathogenic (recessive) g.6337399G>T - 116C>A / Thr39Asp - AIPL1_000041 - PubMed: Khaliq 2003 - - Germline yes - - - - DNA HD , SEQ Blood - retinal disease - PubMed: Khaliq 2003 - - yes - Pakistani - - - - 6 Julia Lopez
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Both (homozygous) - pathogenic g.6337399G>T - c.116C>A - AIPL1_000041 - Khaliq 2003 - - Germline - - - - - DNA SEQ - - retinal disease - Khaliq 2003 - - - - - - - - - 1 LOVD
+/. 2 c.116C>A r.(?) p.(Thr39Asn) Both (homozygous) - pathogenic g.6337399G>T - c.116C>A; p.T39N - AIPL1_000041 - Roosing 2017 - - Germline - - - - - DNA ? - - retinal disease P1 Roosing 2017 - - - - - - - - - 1 LOVD
+/. 2 c.126T>A r.(?) p.(Cys42*) Parent #1 - pathogenic g.6337389A>T g.6434069A>T Cys42X - AIPL1_000051 heterozygous deleterious variant PubMed: Dharmaraj 2004 - - Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
-?/. - c.134A>G r.(?) p.(Glu45Gly) Unknown - likely benign g.6337381T>C g.6434061T>C AIPL1(NM_014336.5):c.134A>G (p.E45G) - AIPL1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.140C>G r.(?) p.(Thr47Arg) Unknown - benign g.6337375G>C g.6434055G>C AIPL1(NM_014336.4):c.140C>G (p.T47R), AIPL1(NM_014336.5):c.140C>G (p.T47R) - AIPL1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140C>G r.(?) p.(Thr47Arg) Unknown - likely benign g.6337375G>C g.6434055G>C AIPL1(NM_014336.4):c.140C>G (p.T47R), AIPL1(NM_014336.5):c.140C>G (p.T47R) - AIPL1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>G r.(?) p.(Thr47Arg) Parent #1 - VUS g.6337375G>C g.6434055G>C - - AIPL1_000170 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 7 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
-?/. - c.146T>C r.(?) p.(Ile49Thr) Unknown - likely benign g.6337369A>G g.6434049A>G AIPL1(NM_014336.5):c.146T>C (p.I49T) - AIPL1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.152A>G r.(?) p.(Asp51Gly) Parent #2 - VUS g.6337363T>C g.6434043T>C - - AIPL1_000196 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1663520 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. - c.152A>G r.(?) p.(Asp51Gly) Unknown - likely pathogenic g.6337363T>C g.6434043T>C c.152A>G, p.Asp51Gly - AIPL1_000196 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18070033_A PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+/. - c.152A>G r.(?) p.(Asp51Gly) Parent #1 ACMG pathogenic g.6337363T>C g.6434043T>C AIPL1 NM_014336: g.1157A>G, c.152A>G, p.D51G - AIPL1_000196 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19277 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. - c.152A>G r.(?) p.(Asp51Gly) Parent #2 ACMG pathogenic g.6337363T>C g.6434043T>C AIPL1 NM_014336: g.1157A>G, c.152A>G, p.D51G - AIPL1_000196 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 10283 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. 2 c.152A>G r.(?) p.(Glu51Gly) Unknown - likely pathogenic (recessive) g.6337363T>C - c.152A>G - AIPL1_000196 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 2 c.157C>T r.(?) p.(Arg53Trp) Unknown - pathogenic g.6337358G>A - c.157C>T; p.R53W - AIPL1_000218 - Li 2013 - - Germline - - - - - DNA SEQ - - retinal disease - Li 2013 - - - - - - - - - 1 LOVD
+?/. - c.178dup r.(?) p.(His60Profs*98) Both (homozygous) ACMG likely pathogenic g.6337337dup g.6434017dup - - AIPL1_000157 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - LCA4 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.178dup r.(?) p.(His60ProfsTer98) Unknown - likely pathogenic g.6337337dup g.6434017dup - - AIPL1_000157 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG00942 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.178dup r.(?) p.(His60ProfsTer98) Unknown - likely pathogenic g.6337337dup g.6434017dup - - AIPL1_000157 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG2537 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. 2 c.190G>A r.(?) p.(Gly64Arg) Parent #1 - pathogenic g.6337325C>T g.6434005C>T - - AIPL1_000053 compound heterozygous missense variant PubMed: Tan 2012 - - Germline - - - - - DNA arraySNP, SEQ, PCR - - LCA - - - ? no - white - - - - 1 Raheel Qamar
+/. 2 c.190G>A r.(?) p.(Gly64Arg) Parent #2 - pathogenic g.6337325C>T - p.Gly64Arg - AIPL1_000053 - PubMed: Tan 2012 - - Germline - 0.003 in 153 patients; 0 in 96 controls - - - DNA PE, SEQ, PCR blood bi-directional sequencing retinal disease - PubMed: Tan 2012 - - no - White - - - - 1 LOVD
?/. 2 c.211G>T r.(?) p.(Val71Phe) Parent #1 - VUS g.6337304C>A g.6433984C>A - - AIPL1_000055 homozygous missense variant PubMed: Hanein 2004 - - Germline - - - - - DNA SEQ, DHPLC, arraySNP - - LCA - - - - no - Africa, north - - - - 1 Raheel Qamar
?/. 2 c.211G>T r.(?) p.(Val71Phe) Parent #2 - VUS g.6337304C>A g.6433984C>A - - AIPL1_000055 homozygous missense variant PubMed: Hanein 2004 - - Germline - - - - - DNA SEQ, DHPLC, arraySNP - - LCA - - - - no - Africa, north - - - - 1 Raheel Qamar
+?/. 2 c.211G>T r.(?) p.(Val71Phe) Parent #1 - likely pathogenic g.6337304C>A g.6433984C>A Val71Phe - AIPL1_000055 compound heterozygous missense variant PubMed: Jacobson 2011 - - Germline - - - - - DNA SEQ - - LCA - - - M ? - Swedish - - - - 1 Raheel Qamar
?/. 2 c.211G>T r.(?) p.(Val71Phe) Parent #1 - VUS g.6337304C>A g.6433984C>A - - AIPL1_000055 homozygous missense variant PubMed: Hanein 2004 - - Germline - - - - - DNA SEQ, DHPLC, arraySNP - - LCA - - - - no - Africa, north - - - - 1 Raheel Qamar
?/. 2 c.211G>T r.(?) p.(Val71Phe) Parent #2 - VUS g.6337304C>A g.6433984C>A - - AIPL1_000055 homozygous missense variant PubMed: Hanein 2004 - - Germline - - - - - DNA SEQ, DHPLC, arraySNP - - LCA - - - - no - Africa, north - - - - 1 Raheel Qamar
+?/. 2 c.211G>T r.(?) p.(Val71Phe) Parent #1 - likely pathogenic g.6337304C>A g.6433984C>A Val71Phe - AIPL1_000055 homozygous missense variant PubMed: Jacobson 2011 - - Germline - - - - - DNA SEQ - - LCA - - - M ? - Africa-N;Jewish - - - - 1 Raheel Qamar
+?/. 2 c.211G>T r.(?) p.(Val71Phe) Parent #2 - likely pathogenic g.6337304C>A g.6433984C>A Val71Phe - AIPL1_000055 homozygous missense variant PubMed: Jacobson 2011 - - Germline - - - - - DNA SEQ - - LCA - - - M ? - Africa-N;Jewish - - - - 1 Raheel Qamar
+/. 2 c.211G>T r.(?) p.(Val71Phe) Both (homozygous) - pathogenic (recessive) g.6337304C>A g.6433984C>A - - AIPL1_000055 - PubMed: Beryozkin 2015, PubMed: Sharon 2019 - - Germline - - - - - DNA SEQ - - LCA MOL0113 PubMed: Beryozkin 2015, PubMed: Sharon 2019 - F no Israel Africa-N;Jewish - - - - 2 Dror Sharon
+/. - c.211G>T r.(?) p.(Val71Phe) Unknown ACMG pathogenic (recessive) g.6337304C>A - - - AIPL1_000055 - PubMed: Sharon 2019 - - Germline - 8/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.211G>T r.(?) p.(Val71Phe) Unknown ACMG pathogenic (recessive) g.6337304C>A - - - AIPL1_000055 - PubMed: Sharon 2019 - - Germline - 8/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Dror Sharon
+/. - c.211G>T r.(?) p.(Val71Phe) Unknown ACMG pathogenic (recessive) g.6337304C>A - - - AIPL1_000055 - PubMed: Sharon 2019 - - Germline - 8/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Dror Sharon
+/. - c.211G>T r.(?) p.(Val71Phe) Unknown ACMG pathogenic (recessive) g.6337304C>A - - - AIPL1_000055 - PubMed: Sharon 2019 - - Germline - 8/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Dror Sharon
+/. - c.211G>T r.(?) p.(Val71Phe) Unknown ACMG pathogenic (recessive) g.6337304C>A - - - AIPL1_000055 - PubMed: Sharon 2019 - - Germline - 8/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Dror Sharon
+/. - c.211G>T r.(?) p.(Val71Phe) Unknown ACMG pathogenic (recessive) g.6337304C>A - - - AIPL1_000055 - PubMed: Sharon 2019 - - Germline - 8/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Dror Sharon
+/. - c.211G>T r.(?) p.(Val71Phe) Unknown ACMG pathogenic (recessive) g.6337304C>A - - - AIPL1_000055 - PubMed: Sharon 2019 - - Germline - 8/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 family - - Israel - - - - - 1 Dror Sharon
+?/. 3 c.211G>T r.(?) p.(Val71Phe) Both (homozygous) - likely pathogenic g.6337304C>A - p.Val71Phe - AIPL1_000055 - PubMed: Jacobson 2011 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Jacobson 2011 - M - - - - - - - 1 LOVD
+?/. 3 c.211G>T r.(?) p.(Val71Phe) Parent #2 - likely pathogenic g.6337304C>A - p.Val71Phe - AIPL1_000055 - PubMed: Jacobson 2011 - - Germline - - - - - DNA ? - - retinal disease - PubMed: Jacobson 2011 - M - - - - - - - 1 LOVD
+?/. 3 c.211G>T r.(?) p.(Val71Phe) Both (homozygous) - likely pathogenic g.6337304C>A - c.211G>T - AIPL1_000055 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. 2 c.214T>C r.(?) p.(Trp72Arg) Parent #1 - likely pathogenic g.6337301A>G g.6433981A>G Trp72Arg - AIPL1_000061 compound heterozygous missense variant PubMed: Jacobson 2011 - - Germline - - - - - DNA SEQ - - LCA - - - F ? - Europe, north - - - - 1 Raheel Qamar
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