Full data view for gene ZNF408

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_024741.2 transcript reference sequence.

117 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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Owner     
-?/. - c.30G>C r.(?) p.(Glu10Asp) Unknown - likely benign g.46722627G>C g.46701077G>C ZNF408(NM_024741.2):c.30G>C (p.E10D) - ARHGAP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35A>G r.(?) p.(Lys12Arg) Unknown - likely benign g.46722632A>G g.46701082A>G ZNF408(NM_024741.3):c.35A>G (p.K12R) - ZNF408_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+36G>C r.(=) p.(=) Unknown - benign g.46722685G>C g.46701135G>C ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R) - ZNF408_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52+36G>C r.(=) p.(=) Unknown - likely benign g.46722685G>C g.46701135G>C ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R) - ZNF408_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.52+36G>C r.(=) p.(=) Unknown - likely benign g.46722685G>C g.46701135G>C ZNF408(NM_001184751.1):c.22G>C (p.G8R, p.(Gly8Arg)), ZNF408(NM_001184751.2):c.22G>C (p.G8R) - ZNF408_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53-4G>A r.spl? p.? Unknown - likely benign g.46722945G>A g.46701395G>A ZNF408(NM_024741.2):c.53-4G>A - ZNF408_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126C>G r.(?) p.(Asp42Glu) Unknown - likely benign g.46723022C>G g.46701472C>G ZNF408(NM_001184751.1):c.102C>G (p.(Asp34Glu)) - ARHGAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.130C>T r.(?) p.(Pro44Ser) Unknown - VUS g.46723026C>T g.46701476C>T - - ZNF408_000050 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam16 PubMed: Musada 2016 see paper - - India - - - - - 1 LOVD
-/. - c.199C>G r.(?) p.(Leu67Val) Unknown - benign g.46723095C>G g.46701545C>G ZNF408(NM_024741.3):c.199C>G (p.L67V) - ZNF408_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Asp80=) Unknown - likely benign g.46723136C>T g.46701586C>T ZNF408(NM_024741.3):c.240C>T (p.D80=) - ZNF408_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276A>G r.(?) p.(=) Unknown - likely benign g.46723172A>G - ZNF408(NM_001184751.2):c.252A>G (p.E84=) - ARHGAP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.333C>G r.(?) p.(Asn111Lys) Unknown - VUS g.46724256C>G - ZNF408(NM_024741.2):c.333C>G (p.N111K) - ARHGAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.363_364del r.(?) p.(Ala122Leufs*2) Both (homozygous) - likely pathogenic (recessive) g.46724286_46724287del g.46702736_46702737del 358_359delGT - ZNF408_000035 not in 374 control chromosomes PubMed: Avila-Fernandez 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ - WES, RP72, retinal disease RP-0332 II:1 PubMed: Avila-Fernandez 2015 2-generation family, 2 affected (siblings) F ? Spain - - - - - 2 Jasmine Chen
+/. 3 c.363_364del r.(?) p.(Ala122Leufs*2) Both (homozygous) - likely pathogenic (recessive) g.46724286_46724287del g.46702736_46702737del 358_359delGT - ZNF408_000035 not in 384 control alleles tested PubMed: Avila-Fernandez 2015 - - Germline yes - - - - DNA SEQ-NG-I, SEQ - WES, RP72, retinal disease RP-0332 II:2 PubMed: Avila-Fernandez 2015 2 generation family, 2 affected (siblings) F ? Spain - - - - - 1 Jasmine Chen
+/. - c.377G>A r.(?) p.(Ser126Asn) Unknown - pathogenic g.46724300G>A g.46702750G>A - - ZNF408_000018 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs536561101 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+/. - c.377G>A r.(?) p.(Ser126Asn) Paternal (confirmed) - likely pathogenic (dominant) g.46724300G>A g.46702750G>A - - ZNF408_000018 - PubMed: Collins 2013 - - Germline yes 0/382 control alleles - - - DNA SEQ-NG-S - - EVR6, EVR;FEVR F117 II:2 PubMed: Collin 2013 2 generation family, 2 affected M no Japan - - - - laser photocoagulation 2 Jasmine Chen
+/. - c.377G>A r.(?) p.(Ser126Asn) Parent #1 - likely pathogenic (dominant) g.46724300G>A g.46702750G>A - - ZNF408_000018 - PubMed: Collins 2013 - - Germline ? 0/382 control alleles - - - DNA SEQ-NG-S - - EVR6, EVR;FEVR F117 I:1 PubMed: Collin 2013 PatI1 M no Japan - - - - - 1 Jasmine Chen
?/. 3 c.377G>A r.(?) p.(Ser126Asn) Both (homozygous) - VUS g.46724300G>A - c.377G>A:p.S126N - ZNF408_000018 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
?/. - c.391A>C r.(?) p.(Ser131Arg) Unknown - VUS g.46724314A>C - ZNF408(NM_024741.2):c.391A>C (p.S131R) - ARHGAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396G>A r.(?) p.(Leu132=) Unknown - likely benign g.46724537G>A - ZNF408(NM_024741.2):c.396G>A (p.L132=) - ARHGAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.443G>A r.(?) p.(Arg148Gln) Unknown - pathogenic g.46724584G>A g.46703034G>A - - ZNF408_000053 - PubMed: Salvo 2015 - - Germline yes - - - - DNA SEQ-NG - 163-gene panel retinal disease 14022004 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
?/. - c.457C>T r.(?) p.(Leu153Phe) Unknown - VUS g.46724598C>T g.46703048C>T ZNF408(NM_024741.2):c.457C>T (p.L153F) - ZNF408_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.502C>T r.(?) p.(Leu168=) Unknown - likely benign g.46724643C>T g.46703093C>T ZNF408(NM_024741.3):c.502C>T (p.L168=) - ARHGAP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553_564del r.(?) p.(Leu185_Glu188del) Parent #1 - VUS g.46724694_46724705del g.46703144_46703155del 552_563del - ZNF408_000045 variant found in unaffected members PubMed: Su 2018 - - Germline no - - - - DNA SEQ-NG - - retinal disease Fam PubMed: Su 2018 2-generation family, affected mother/child F - China - - - - - 2 Johan den Dunnen
?/. - c.581_592del r.(?) p.(Val194_Val197del) Unknown - VUS g.46724722_46724733del g.46703172_46703183del - - ZNF408_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs148055528 Germline - 565/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 565 Yoshito Koyanagi
?/. - c.581_592del r.(?) p.(Val194_Val197del) Both (homozygous) - VUS g.46724722_46724733del g.46703172_46703183del - - ZNF408_000019 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs148055528 Germline - 467/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 467 Yoshito Koyanagi
-/. - c.581_592del r.(?) p.(Val194_Val197del) Unknown - benign g.46724722_46724733del g.46703172_46703183del - - ZNF408_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.604C>T r.(?) p.(Gln202*) Unknown - pathogenic g.46724745C>T g.46703195C>T - - ZNF408_000020 - 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.653-18C>T r.(=) p.(=) Unknown - benign g.46725885C>T g.46704335C>T ZNF408(NM_024741.3):c.653-18C>T - ARHGAP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.653-16C>A r.(=) p.(=) Unknown - benign g.46725887C>A g.46704337C>A ZNF408(NM_024741.3):c.653-16C>A - ZNF408_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653-10T>G r.(=) p.(=) Unknown - likely benign g.46725893T>G g.46704343T>G ZNF408(NM_024741.3):c.653-10T>G - ZNF408_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4i c.653-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.46725902G>T g.46704352G>T - - ZNF408_000039 - PubMed: Habibi 2017 - - Germline yes - - - - DNA SEQ-NG-I - WES RP72, retinal disease Habibi 2017 Patient IV:1 PubMed: Habibi 2017 4 generation family, 3 affected F yes Tunisia - - - - - 3 Jasmine Chen
+/. 4i c.653-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.46725902G>T g.46704352G>T - - ZNF408_000039 - PubMed: Habibi 2017 - - Germline yes - - - - DNA SEQ-NG-I - WES RP72, retinal disease Habibi 2017 Patient IV:2 PubMed: Habibi 2017 PatIV2 F yes Tunisia - - - - - 1 Jasmine Chen
+/. 4i c.653-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.46725902G>T g.46704352G>T - - ZNF408_000039 - PubMed: Habibi 2017 - - Germline yes - - - - DNA SEQ-NG-I - WES RP72, retinal disease Habibi 2017 Patient IV:4 PubMed: Habibi 2017 PatIV4 F yes Tunisia - - - - - 1 Jasmine Chen
?/. - c.689A>G r.(?) p.(Glu230Gly) Unknown - VUS g.46725939A>G g.46704389A>G ZNF408(NM_024741.2):c.689A>G (p.E230G) - ARHGAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.694A>G r.(?) p.(Met232Val) Unknown - VUS g.46725944A>G g.46704394A>G - - ZNF408_000051 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam6 PubMed: Musada 2016 see paper - - India - - - - - 1 LOVD
-?/. - c.696G>A r.(?) p.(Met232Ile) Unknown - likely benign g.46725946G>A g.46704396G>A ZNF408(NM_024741.3):c.696G>A (p.M232I) - ARHGAP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704C>G r.(?) p.(Pro235Arg) Unknown - VUS g.46725954C>G g.46704404C>G - - ZNF408_000021 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs764632543 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
-?/. - c.726G>A r.(?) p.(=) Unknown - likely benign g.46725976G>A - ZNF408(NM_001184751.2):c.702G>A (p.Q234=) - ARHGAP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892G>A r.(?) p.(Gly298Ser) Unknown - VUS g.46726142G>A g.46704592G>A - - ZNF408_000022 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs371633363 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
?/. 5 c.892G>A r.(?) p.(Gly298Ser) Maternal (confirmed) ACMG VUS g.46726142G>A g.46704592G>A c.868G>A, p.G290S - ZNF408_000022 different transcript: NM_001184751.1(ZNF408):c.868G>A, p.(Gly290Ser) PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 10 PubMed: Li 2018 - M - China - - - - - 1 LOVD
-/. - c.903G>T r.(?) p.(Pro301=) Unknown - benign g.46726153G>T g.46704603G>T ZNF408(NM_024741.2):c.903G>T (p.P301=), ZNF408(NM_024741.3):c.903G>T (p.P301=) - ARHGAP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.903G>T r.(?) p.(Pro301=) Unknown - likely benign g.46726153G>T - ZNF408(NM_024741.2):c.903G>T (p.P301=), ZNF408(NM_024741.3):c.903G>T (p.P301=) - ARHGAP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>T r.(?) p.(Ser336Leu) Unknown - VUS g.46726257C>T g.46704707C>T ZNF408(NM_024741.2):c.1007C>T (p.S336L) - ZNF408_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1010G>C r.(?) p.(Arg337Pro) Unknown - benign g.46726260G>C g.46704710G>C ZNF408(NM_024741.3):c.1010G>C (p.R337P) - ZNF408_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054C>T r.(?) p.(Arg352Trp) Unknown - VUS g.46726304C>T g.46704754C>T - - ZNF408_000023 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs534022710 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.1054C>T r.(?) p.(Arg352Trp) Unknown - VUS g.46726304C>T - - - ZNF408_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1055G>A r.(?) p.(Arg352Gln) Unknown - VUS g.46726305G>A g.46704755G>A - - ZNF408_000024 - 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.1061G>A r.(?) p.(Arg354Gln) Unknown - VUS g.46726311G>A g.46704761G>A ZNF408(NM_024741.3):c.1061G>A (p.R354Q) - ARHGAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1093C>T r.(?) p.(Leu365=) Unknown - likely benign g.46726343C>T - ZNF408(NM_024741.3):c.1093C>T (p.L365=) - ARHGAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1107del r.(?) p.(Lys370SerfsTer118) Unknown - likely pathogenic g.46726357del g.46704807del c.1083delG;p.K361fsa - ZNF408_000056 different transcript: NM_001184751.1(ZNF408):c.1083del PubMed: Tian 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 16 PubMed: Tian 2019 - ? - China - - - - - 1 LOVD
?/. - c.1114G>A r.(?) p.(Ala372Thr) Unknown - VUS g.46726364G>A g.46704814G>A ZNF408(NM_024741.3):c.1114G>A (p.A372T) - ARHGAP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1139C>T r.(?) p.(Pro380Leu) Unknown - VUS g.46726389C>T - - - ARHGAP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1174T>C r.(?) p.(Ser392Pro) Unknown ACMG likely pathogenic g.46726424T>C - - - ZNF408_000043 - 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.1219C>T r.(?) p.(Arg407Trp) Unknown - VUS g.46726469C>T g.46704919C>T - - ZNF408_000025 - 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.1304G>A r.(?) p.(Arg435Gln) Unknown - VUS g.46726554G>A g.46705004G>A - - ZNF408_000026 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs185413257 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+/. - c.1304G>A r.(?) p.(Arg435Gln) Both (homozygous) - likely pathogenic (recessive) g.46726554G>A g.46705004G>A - - ZNF408_000026 PolyPhen2 (0.983) PubMed: Biswas 2018 - rs185413257 Germline yes 0/100 control alleles - - - DNA SEQ-NG-I - WES retinal degeneration, retinal disease PKRD320 III:4 PubMed: Biswas 2018 3-generation family, 3 affected M yes Pakistan - - - - - 3 Jasmine Chen
+/. - c.1304G>A r.(?) p.(Arg435Gln) Both (homozygous) - likely pathogenic (recessive) g.46726554G>A g.46705004G>A - - ZNF408_000026 - PubMed: Biswas 2018 - rs185413257 Germline yes 0/100 control alleles - - - DNA SEQ-NG-I white blood cells WES retinal degeneration PKRD320 III:7 PubMed: Biswas 2018 PatIII7 F yes Pakistan - - - - - 1 Jasmine Chen
?/. - c.1304G>A r.(?) p.(Arg435Gln) Unknown - VUS g.46726554G>A - ZNF408(NM_024741.2):c.1304G>A (p.R435Q), ZNF408(NM_024741.3):c.1304G>A (p.(Arg435Gln)) - ZNF408_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1304G>A r.(?) p.(Arg435Gln) Unknown - VUS g.46726554G>A - ZNF408(NM_024741.2):c.1304G>A (p.R435Q), ZNF408(NM_024741.3):c.1304G>A (p.(Arg435Gln)) - ZNF408_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1307C>T r.(?) p.(Pro436Leu) Unknown - likely pathogenic (recessive) g.46726557C>T g.46705007C>T ZNF408 c.1307 C > T - ZNF408_000058 heterozygous; no protein annotation PubMed: Tanenbaum 2020 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Tanenbaum 2020 - M - Dominican Republic - - - - - 1 LOVD
+?/. - c.1342C>T r.(?) p.(Arg448Cys) Parent #1 - likely pathogenic g.46726592C>T g.46705042C>T - - ZNF408_000048 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat101 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
?/. - c.1342C>T r.(?) p.(Arg448Cys) Unknown - VUS g.46726592C>T g.46705042C>T - - ZNF408_000048 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71762 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
?/. - c.1345C>T r.(?) p.(Arg449Trp) Unknown - VUS g.46726595C>T - ZNF408(NM_001184751.1):c.1321C>T (p.(Gln441*)) - ARHGAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1352C>G r.(?) p.(Ser451Cys) Parent #1 - likely pathogenic g.46726602C>G g.46705052C>G - - ZNF408_000046 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 109 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. 5 c.1363C>T r.(?) p.(His455Tyr) Paternal (inferred) - pathogenic (dominant) g.46726613C>T g.46705063C>T - - ZNF408_000040 not in 220 control alleles tested PubMed: Collins 2013 - - Germline yes - - - - DNA SEQ-NG-S peripheral blood lymphocytes 1.22% of human genome (exome sequencing using SureSelect Human Exome Enrichment Kit V1) EVR6, EVR;FEVR W05-215 III:5 PubMed: Collin 2013 5-generation family, 12 affected M no Netherlands - - - - diathermy 12 Jasmine Chen
+/. 5 c.1363C>T r.(?) p.(His455Tyr) Paternal (confirmed) - pathogenic (dominant) g.46726613C>T g.46705063C>T - - ZNF408_000040 not in 220 control alleles PubMed: Collins 2013 - - Germline yes - - - - DNA SEQ-NG-S peripheral blood lymphocytes exome sequencing EVR6, EVR;FEVR W05-215 V:2 PubMed: Collin 2013 PatV2 F no Netherlands - - - - - 1 Jasmine Chen
+/. 5 c.1363C>T r.(?) p.(His455Tyr) Maternal (inferred) - pathogenic (dominant) g.46726613C>T g.46705063C>T - - ZNF408_000040 not in 220 control alleles PubMed: Collins 2013 - - Germline ? - - - - DNA SEQ-NG-S - - EVR6, EVR;FEVR W05-220 IV:3 PubMed: Collin 2013 5 generation family, 2 affected; related to family W05-215 of same study by common ancestor M no Netherlands - - - - - 2 Jasmine Chen
+/. 5 c.1363C>T r.(?) p.(His455Tyr) Maternal (inferred) - pathogenic (dominant) g.46726613C>T g.46705063C>T - - ZNF408_000040 mother not studied in enough detail to establish presence of FEVR (although nonpenetrance possible) PubMed: Collins 2013 - - Germline ? - - - - DNA SEQ-NG-S - exome sequencing EVR6, EVR;FEVR W05-220 V:2 PubMed: Collin 2013 PatV2 M no Netherlands - - - - - 1 Jasmine Chen
+?/. - c.1363C>T r.(?) p.(His455Tyr) Parent #1 - likely pathogenic g.46726613C>T g.46705063C>T - - ZNF408_000040 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 108 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
?/. - c.1363C>T r.(?) p.(His455Tyr) Unknown - VUS g.46726613C>T - - - ZNF408_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1411C>A r.(?) p.(Pro471Thr) Unknown - VUS g.46726661C>A - ZNF408(NM_024741.2):c.1411C>A (p.P471T) - ARHGAP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1471A>G r.(?) p.(Thr491Ala) Unknown - VUS g.46726721A>G g.46705171A>G - - ZNF408_000041 - PubMed: Weiner 2019 - - Unknown - - - - - DNA ? - WES - Patient 1 PubMed: Weiner 2019 Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome (MPPC) ORPHA:231736 F ? United States - - - - - 1 Jasmine Chen
+/. - c.1474G>A r.(?) p.(Gly492Arg) Both (homozygous) - likely pathogenic (recessive) g.46726724G>A g.46705174G>A - - ZNF408_000036 possibly variant is not responsible for disease phenotype (although affects function), highly conserved PubMed: Avila-Fernandez 2015 - - Germline ? 0/150 control alleles - - - DNA SEQ - - RP72, retinal disease Individual 3 PubMed: Avila-Fernandez 2015 - ? ? Spain - - - - - 1 Jasmine Chen
-/. - c.1497G>A r.(?) p.(Pro499=) Unknown - benign g.46726747G>A g.46705197G>A ZNF408(NM_024741.2):c.1497G>A (p.P499=), ZNF408(NM_024741.3):c.1497G>A (p.P499=) - ZNF408_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1497G>A r.(?) p.(Pro499=) Unknown - likely benign g.46726747G>A g.46705197G>A ZNF408(NM_024741.2):c.1497G>A (p.P499=), ZNF408(NM_024741.3):c.1497G>A (p.P499=) - ZNF408_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1534C>T r.(?) p.(Arg512Cys) Unknown - VUS g.46726784C>T g.46705234C>T ZNF408(NM_024741.2):c.1534C>T (p.R512C) - ARHGAP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1546C>T r.(?) p.(Arg516Trp) Unknown - VUS g.46726796C>T g.46705246C>T - - ZNF408_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs754950117 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.1547G>A r.(?) p.(Arg516Gln) Unknown - VUS g.46726797G>A g.46705247G>A - - ZNF408_000028 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs147829946 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+?/. - c.1572C>A r.(?) p.(Tyr524Ter) Parent #2 - likely pathogenic g.46726822C>A g.46705272C>A - - ZNF408_000049 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat101 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
?/. - c.1573C>T r.(?) p.(Arg525Cys) Unknown - VUS g.46726823C>T g.46705273C>T ZNF408(NM_024741.3):c.1573C>T (p.R525C) - ZNF408_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1621C>T r.(?) p.(Arg541Cys) Both (homozygous) - pathogenic (recessive) g.46726871C>T g.46705321C>T - - ZNF408_000037 highly conserved (cross-species comparison) PubMed: Avila-Fernandez 2015 - - Germline ? 0/374 control chromosomes - - - DNA SEQ - - RP72, retinal disease RP-0976 II:2 PubMed: Avila-Fernandez 2015 3 generation family, 1 affected M yes Spain - - - - - 1 Jasmine Chen
+?/. 5 c.1621C>T r.(?) p.(Arg541Cys) Unknown - likely pathogenic g.46726871C>T g.46705321C>T ZNF408 Ex.5 c.1621C>T p.(Arg541Cys), Ex.5 c.1621C>T p.(Arg541Cys), CRB1: p.(Phe144Val) Ex.2 c.430T>G - ZNF408_000037 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease RP-0976 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
-?/. - c.1644G>A r.(?) p.(Gly548=) Unknown - likely benign g.46726894G>A g.46705344G>A ZNF408(NM_001184751.2):c.1620G>A (p.G540=), ZNF408(NM_024741.2):c.1644G>A (p.G548=) - ARHGAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1644G>A r.(?) p.(Gly548=) Unknown - likely benign g.46726894G>A - ZNF408(NM_001184751.2):c.1620G>A (p.G540=), ZNF408(NM_024741.2):c.1644G>A (p.G548=) - ARHGAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1661C>T r.(?) p.(Pro554Leu) Unknown - VUS g.46726911C>T - ZNF408(NM_024741.2):c.1661C>T (p.P554L) - ARHGAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1661C>T r.(?) p.(Pro554Leu) Unknown - likely benign g.46726911C>T - ZNF408(NM_024741.2):c.1661C>T (p.P554L) - ARHGAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1697T>A r.(?) p.(Leu566His) Unknown ACMG pathogenic g.46726947T>A - - - ZNF408_000044 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.1699C>T r.(?) p.(Arg567*) Parent #2 - likely pathogenic g.46726949C>T g.46705399C>T - - ZNF408_000047 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 108 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.1747C>A r.(?) p.(Gln583Lys) Both (homozygous) - likely pathogenic (recessive) g.46726997C>A g.46705447C>A - - ZNF408_000038 not known if variant is responsible for phenotype although affects function, highly conserved PubMed: Avila-Fernandez 2015 - - Germline ? 0/150 control alleles - - - DNA SEQ - - RP72, retinal disease Individual 4 PubMed: Avila-Fernandez 2015 - ? ? Spain - - - - - 1 Jasmine Chen
-?/. - c.1755C>T r.(?) p.(Gly585=) Unknown - likely benign g.46727005C>T - ZNF408(NM_024741.2):c.1755C>T (p.G585=) - ARHGAP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1782dup r.(?) p.(Arg595Alafs*38) Unknown - pathogenic g.46727032dup g.46705482dup - - ZNF408_000029 - 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.1786C>T r.(?) p.(Arg596Cys) Unknown - VUS g.46727036C>T g.46705486C>T ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1786C>T r.(?) p.(Arg596Cys) Unknown - VUS g.46727036C>T g.46705486C>T ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1786C>T r.(?) p.(Arg596Cys) Unknown - VUS g.46727036C>T g.46705486C>T ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1786C>T r.(?) p.(Arg596Cys) Unknown - VUS g.46727036C>T - ZNF408(NM_024741.2):c.1786C>T (p.R596C), ZNF408(NM_024741.3):c.1786C>T (p.R596C) - ZNF408_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1870C>T r.(?) p.(Arg624Trp) Unknown - VUS g.46727120C>T g.46705570C>T - - ZNF408_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs771261129 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.1889G>A r.(?) p.(Arg630Gln) Unknown - likely benign g.46727139G>A g.46705589G>A ZNF408(NM_024741.2):c.1889G>A (p.R630Q) - ARHGAP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1889G>C r.(?) p.(Arg630Pro) Unknown - VUS g.46727139G>C g.46705589G>C ZNF408(NM_024741.2):c.1889G>C (p.R630P) - ZNF408_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1890G>A r.(?) p.(Arg630=) Unknown - likely benign g.46727140G>A - ZNF408(NM_024741.2):c.1890G>A (p.R630=), ZNF408(NM_024741.3):c.1890G>A (p.R630=) - ARHGAP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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