Full data view for gene IMPDH1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000883.3 transcript reference sequence.

268 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.-7524004_*7032997del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.(?_-1)_(*1_?)del r.(?) p.(?) Unknown ACMG likely pathogenic g.? g.? PRPF31 c.(?_-1) _(238+1_239-1)del, IMPDH1 c.(?_-1) _(*1_?)del - EZH2_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 194 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.? r.(?) p.(Leu284Pro) Unknown ACMG likely pathogenic g.128038583A>G - NM_183243.2:c.851T>C - IMPDH1_000051 - 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.? r.? p.? Unknown ACMG likely pathogenic (dominant) g.? - NM_001142575 :c.612_614delTTC (p.K206del) - EZH2_000001 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM091 PubMed: Zhang 2016 family M - United States Hispanic - - - - 1 LOVD
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic (dominant) g.? - 954G>C (Q318H) - EZH2_000001 not in 192 controls PubMed: Coussa 2015 - - Germline - 1/60 cases - - - DNA SEQ - gene panel retinal disease - PubMed: Coussa 2015 index patient - - Canada French-Canadian - - - - 1 LOVD
+/. 9 c.? r.(?) p.? Unknown - pathogenic g.128038619C>T - c.923G>A - IMPDH1_000051 - PubMed: Jin 2008 - - Unknown - - - - - DNA DHPLC blood - retinal disease - PubMed: Jin 2008 - - - Japan - - - - - 1 LOVD
+/. 5 c.? r.(?) p.? Unknown - pathogenic g.? - JO5272: Arg224Pro - EZH2_000001 - PubMed: Kennan 2002 - - Germline - - - - - DNA SEQ, PCR blood - retinal disease FA84 PubMed: Kennan 2002 8513324_Jordan 1993 - - Spain Spanish - - - - 1 LOVD
+/. 5 c.? r.(?) p.? Unknown - pathogenic g.? - R224P - EZH2_000001 adRP-linked PubMed: Mortimer 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.? r.(?) p.? Unknown - pathogenic g.? - D226N - EZH2_000001 adRP-linked PubMed: Mortimer 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.? r.(?) p.? Unknown - pathogenic g.? - V268I - EZH2_000001 adRP-linked PubMed: Mortimer 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.? r.(?) p.? Unknown - pathogenic g.? - J05272: Leu227Pro - EZH2_000001 - PubMed: Wada 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Wada 2005 - F - Japan Japanese - - - - 1 LOVD
+?/. 5 c.? r.(?) p.? Unknown - likely pathogenic g.? - J05272: Lys238Arg - EZH2_000001 - PubMed: Wada 2005 - - Germline yes 0/50 controls - - - DNA SEQ blood - retinal disease - PubMed: Wada 2005 - M - Japan Japanese - - - - 1 LOVD
+?/. 11 c.? r.(?) p.? Unknown - likely pathogenic g.128037036T>G - His372Pro - IMPDH1_000051 A not found at position 1196, found T instead. PubMed: Bowne 2006 - - Germline ? - - - - DNA SEQ blood - retinal disease UTAD026 PubMed: Bowne 2006 - - - (United States) - - - - - 1 LOVD
-/. 9 c.? r.(?) p.? Unknown - benign g.128038571C>T - Gly324Asp - IMPDH1_000051 G not found at position 1052, found A instead. PubMed: Bowne 2006 - - Germline ? - - - - DNA SEQ blood - retinal disease UTAD067 PubMed: Bowne 2006 - - - (United States) - - - - - 1 LOVD
-/. 9 c.? r.(?) p.? Unknown - benign g.128038571C>T - Gly324Asp - IMPDH1_000051 G not found at position 1052, found A instead. PubMed: Bowne 2006 - - Germline ? - - - - DNA SEQ blood - retinal disease UTAD904 PubMed: Bowne 2006 - - - (United States) - - - - - 1 LOVD
+?/. 5 c.? r.(?) p.? Unknown - likely pathogenic g.128045861G>A - Arg105Trp - IMPDH1_000051 C not found at position 394, found G instead. PubMed: Bowne 2006 - - Germline ? - - - - DNA SEQ blood - retinal disease UTAD463 PubMed: Bowne 2006 - - - (United States) - - - - - 1 LOVD
+/. 7 c.? r.(?) p.? Unknown - pathogenic g.128040579A>C - Asn198Lys - IMPDH1_000051 T not found at position 675, found C instead. PubMed: Bowne 2006 - - De novo no - - - - DNA SEQ blood - retinal disease UTAD391 PubMed: Bowne 2006 - - - (United States) - - - - - 1 LOVD
-/. 9 c.? r.(?) p.? Unknown - benign g.128038655T>C - His296Arg - IMPDH1_000051 A not found at position 968, found T instead. PubMed: Bowne 2006 - - Germline ? - - - - DNA SEQ blood - retinal disease RFS246 PubMed: Bowne 2006 - - - (United States) - - - - - 1 LOVD
?/. - c.7G>A r.(?) p.(Gly3Arg) Unknown - VUS g.128049949C>T - IMPDH1(NM_000883.3):c.7G>A (p.G3R) - IMPDH1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.34G>C r.(?) p.(Gly12Arg) Unknown - VUS g.128049922C>G g.128409868C>G IMPDH1(NM_000883.3):c.34G>C (p.G12R) - IMPDH1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71G>C r.(?) p.(Arg24Pro) Parent #1 - likely pathogenic g.128049885C>G g.128409831C>G IMPDH1, variant 1: c.71G>C/p.R24P - IMPDH1_000086 possibly solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 767 PubMed: Weisschuh 2020 Filing key number: 297, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.147-2A>G r.spl? p.? Unknown ACMG VUS g.128049540T>C - - - IMPDH1_000072 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GS_0050 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 2 c.189A>G r.spl p.? Parent #1 - pathogenic (dominant) g.128049496T>C g.128409442T>C - - IMPDH1_000055 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat186 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
-?/. - c.190+6T>A r.(=) p.(=) Unknown - likely benign g.128049489A>T - IMPDH1(NM_000883.3):c.190+6T>A - IMPDH1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.193del r.(?) p.(Leu65Tyrfs*26) Unknown - pathogenic g.128049404del g.128409350del - - IMPDH1_000037 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 1 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 2 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 3 PubMed: Grover 2004 - M - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 4 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 5 PubMed: Grover 2004 - M - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 6 PubMed: Grover 2004 - M - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 7 PubMed: Grover 2004 - M - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 8 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 9 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 10 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 11 PubMed: Grover 2004 - M - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 12 PubMed: Grover 2004 - M - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 13 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 14 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 15 PubMed: Grover 2004 - F - (United States) - - - - - 1 LOVD
+/. 3 c.231G>C r.(?) p.(Gln77His) Unknown - pathogenic g.128049366C>G - Arg231Pro - IMPDH1_000097 - PubMed: Grover 2004 - - Germline yes - - - - DNA SSCA, SEQ - - retinal disease 16 PubMed: Grover 2004 - M - (United States) - - - - - 1 LOVD
-/. - c.254+17C>T r.(=) p.(=) Unknown - benign g.128049326G>A g.128409272G>A IMPDH1(NM_000883.4):c.254+17C>T - IMPDH1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.255-2A>G r.spl p.(?) Parent #1 - likely pathogenic g.128045921T>C g.128405867T>C IMPDH1, variant 1: c.255-2A>G/p.? - IMPDH1_000085 solved, heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 912 PubMed: Weisschuh 2020 Filing key number: 388, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 5 c.318G>C r.? p.(Gln106His) Unknown - likely pathogenic (recessive) g.128045856C>G - c.318G>C - IMPDH1_000090 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 5 c.319C>T r.(=) p.(Gln107*) Unknown - likely pathogenic (recessive) g.128045855G>A - c.319C>T - IMPDH1_000089 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
-?/. - c.348C>T r.(?) p.(Thr116=) Unknown - likely benign g.128045826G>A - IMPDH1(NM_000883.4):c.348C>T (p.T116=) - IMPDH1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.349C>T r.(=) p.(=) Unknown - likely pathogenic g.128045825G>A - Thr116Met - IMPDH1_000096 C not found at position 430, found T instead. PubMed: Bowne 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease UTAD083 PubMed: Bowne 2006 - - - (United States) - - - - - 1 LOVD
-/. - c.353+7G>C r.(=) p.(=) Unknown - benign g.128045814C>G g.128405760C>G IMPDH1(NM_000883.4):c.353+7G>C - IMPDH1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.353+8C>A r.(=) p.(=) Unknown - likely benign g.128045813G>T g.128405759G>T IMPDH1(NM_000883.4):c.353+8C>A - IMPDH1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.402+1G>T r.spl p.(?) Both (homozygous) ACMG likely pathogenic g.128043759C>A g.128403705C>A IMPDH1 c.402+1G>T, p.(?), c.402+1G>T, p.(?) - IMPDH1_000076 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 148 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-?/. - c.402+9C>T r.(=) p.(=) Unknown - likely benign g.128043751G>A - IMPDH1(NM_000883.3):c.402+9C>T - IMPDH1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402+15C>T r.(=) p.(=) Unknown - likely benign g.128043745G>A - IMPDH1(NM_000883.4):c.402+15C>T - IMPDH1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.402+57G>A r.spl p.? Parent #1 - pathogenic g.128043703C>T g.128403649C>T - - IMPDH1_000059 - PubMed: Bravo-Gil 2016 - - Germline - - - - - DNA SEQ-NG - 64-gene panel retinal disease 63 PubMed: Bravo-Gil 2016 see paper - - Spain - - - - - 1 LOVD
?/. - c.403-5C>A r.spl? p.? Unknown - VUS g.128041175G>T g.128401121G>T - - IMPDH1_000036 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.444G>T r.(?) p.(Thr148=) Unknown - benign g.128041129C>A g.128401075C>A IMPDH1(NM_000883.4):c.444G>T (p.T148=) - IMPDH1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.461C>T r.(?) p.(Pro154Leu) Unknown - VUS g.128041112G>A g.128401058G>A IMPDH1(NM_000883.4):c.461C>T (p.P154L) - IMPDH1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.522T>C r.(?) p.(Gly174=) Unknown - benign g.128040928A>G g.128400874A>G IMPDH1(NM_000883.3):c.522T>C (p.G174=) - IMPDH1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527T>C r.(?) p.(Ile176Thr) Unknown ACMG VUS g.128040923A>G g.128400869A>G IMPDH1 c.527T>C, p.(Ile176Thr) - IMPDH1_000106 heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 45_54 PubMed: Zhu 2022 family 45, individual 54 F - - - - - - - 1 LOVD
?/. - c.568C>T r.(?) p.(Arg190Trp) Unknown - VUS g.128040882G>A g.128400828G>A IMPDH1(NM_000883.3):c.568C>T (p.R190W) - IMPDH1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.568C>T r.(?) p.(Arg190Trp) Unknown - VUS g.128040882G>A g.128400828G>A - - IMPDH1_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121912553 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+?/. - c.568C>T r.(?) p.(Arg190Trp) Parent #1 - likely pathogenic g.128040882G>A g.128400828G>A NM_001142573.1:c.313C>T - IMPDH1_000022 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
?/. - c.568C>T r.(?) p.(Arg190Trp) Unknown - VUS g.128040882G>A - IMPDH1(NM_000883.3):c.568C>T (p.R190W) - IMPDH1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.569G>T r.(?) p.(Arg190Leu) Unknown - VUS g.128040881C>A g.128400827C>A - - IMPDH1_000067 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 36 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
-?/. - c.580-5C>T r.spl? p.? Unknown - likely benign g.128040598G>A g.128400544G>A IMPDH1(NM_000883.3):c.580-5C>T - IMPDH1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.585T>G r.(?) p.(Phe195Leu) Unknown - likely pathogenic g.128040588A>C g.128400534A>C - - IMPDH1_000071 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. 8 c.590A>C r.(?) p.(Gln197Pro) Unknown ACMG likely pathogenic g.128040583T>G g.128400529T>G c.590A>C - IMPDH1_000070 heterozygous, causative variant PubMed: Hosono2018 - - Germline no - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE125 PubMed: Hosono2018 proband, family EYE125 M no Japan Asian - - - - 1 LOVD
+?/. - c.592G>T r.(?) p.(Gly198Cys) Unknown - likely pathogenic g.128040581C>A g.128400527C>A - - IMPDH1_000056 - PubMed: Stone 2017 - - De novo - - - - - DNA SEQ-NG - - retinal disease 436 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 7 c.592G>T r.(?) p.(Gly198Cys) Unknown - likely pathogenic g.128040581C>A - c.[592G>T];[=] - IMPDH1_000056 - PubMed: Chen-2013 - - Germline - 0/384 controls - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - M - China Chinese - - - - 1 LOVD
?/. - c.595_597del r.(?) p.(Phe199del) Unknown - VUS g.128040577_128040579del g.128400523_128400525del c.595_597delTTC - IMPDH1_000064 - PubMed: Fernandez-San Jose 2015 - - Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP1903 PubMed: Fernandez-San Jose 2015 family, 3 affected - - Spain - - - - - 3 LOVD
+?/. - c.626C>T r.(?) p.(Ser209Leu) Unknown - likely pathogenic g.128040547G>A g.128400493G>A IMPDH1 (NM_000883.3):c.626C>T(p.S209L) - IMPDH1_000103 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 118 - - - DNA SEQ-NG-I blood - ? WHP18 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+?/. - c.626C>T r.(?) p.(Ser209Leu) Unknown - likely pathogenic g.128040547G>A g.128400493G>A IMPDH1 (NM_000883.3):c.626C>T(p.S209L) - IMPDH1_000103 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 119 - - - DNA SEQ-NG-I blood - ? WHP19 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
?/. - c.640G>A r.(?) p.(Asp214Asn) Unknown - VUS g.128040533C>T - IMPDH1(NM_000883.4):c.640G>A (p.D214N) - IMPDH1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659T>A r.(?) p.(Met220Lys) Unknown - VUS g.128040514A>T g.128400460A>T - - IMPDH1_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Parent #1 - pathogenic g.128040497C>T - 676G>A - IMPDH1_000058 Affects CBS domain PubMed: Sullivan 2006 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Sullivan 2006 5 families - - United States - - - - - 20 Julia Lopez
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn (GAC?AAC) - IMPDH1_000058 - PubMed: Bowne 2002 - - Germline yes - - - - DNA SSCA, SEQ blood or bucal swabs - retinal disease UTAD045 PubMed: Bowne 2002 - - - United States American - - - - 24 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn (GAC?AAC) - IMPDH1_000058 - PubMed: Bowne 2002 - - Germline yes - - - - DNA SSCA, SEQ blood or bucal swabs - retinal disease RFS015 PubMed: Bowne 2002 - - - United States American - - - - 13 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn (GAC?AAC) - IMPDH1_000058 - PubMed: Bowne 2002 - - Germline yes - - - - DNA SSCA, SEQ blood or bucal swabs - retinal disease UTAD278 PubMed: Bowne 2002 - - - - British - - - - 4 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn (GAC?AAC) - IMPDH1_000058 - PubMed: Bowne 2002 - - Germline yes - - - - DNA SSCA, SEQ blood or bucal swabs - retinal disease UTAD177 PubMed: Bowne 2002 - - - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-275 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 15564 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 3066 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-171 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-540 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-190 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-117 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-170 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 5033 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-177 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-168 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-127 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-154 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-149 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 3036 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-163 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-394 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-192 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-273 PubMed: Wada 2005 - F - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 038-060 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-278 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
+/. 7 c.676G>A r.(?) p.(Gly226Ser) Unknown - pathogenic g.128040497C>T - Asp226Asn - IMPDH1_000058 - PubMed: Wada 2005 - - Germline yes - - - - DNA SEQ - - retinal disease 001-288 PubMed: Wada 2005 - M - United States American - - - - 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »