Full data view for gene C11orf9

Gene name changed from C11orf9 to MYRF
Information The variants shown are described using the transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.-2632T>C r.(?) p.(=) Unknown - likely pathogenic g.61520264T>C g.61752792T>C - - C11orf9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Unknown - pathogenic (dominant) g.? - - - C11orf9_000000 - Zhou, ASHG2018, P354 - - De novo - - - 1 - DNA SEQ - WES ? ASHG2018-P354 Zhou, ASHG2018 P354 4 unrelated cases - - United States - - - - - 4 Johan den Dunnen
-?/. - c.96T>C r.(?) p.(Asp32=) Unknown - likely benign g.61533173T>C - MYRF(NM_001127392.2):c.123T>C (p.D41=) - C11orf9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.183C>G r.(?) p.(Ser61Arg) Unknown - VUS g.61533505C>G - MYRF(NM_001127392.3):c.210C>G (p.(Ser70Arg)) - C11orf9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224C>T r.(?) p.(Pro75Leu) Unknown - VUS g.61533546C>T - MYRF(NM_001127392.3):c.251C>T (p.(Pro84Leu)) - C11orf9_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.229C>T r.(?) p.(Arg77Cys) Unknown - likely benign g.61533551C>T - MYRF(NM_001127392.1):c.256C>T (p.(Arg86Cys)) - C11orf9_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328G>A r.(?) p.(Gly110Arg) Unknown - VUS g.61533650G>A - MYRF(NM_001127392.3):c.355G>A (p.G119R) - C11orf9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.458C>A r.(?) p.(Thr153Asn) Unknown - likely benign g.61537742C>A - MYRF(NM_001127392.1):c.485C>A (p.(Thr162Asn)) - C11orf9_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.551C>A r.(?) p.(Pro184Gln) Unknown - VUS g.61537835C>A g.61770363C>A MYRF(NM_001127392.2):c.578C>A (p.P193Q) - C11orf9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591C>T r.(?) p.(Tyr197=) Unknown - likely benign g.61537875C>T g.61770403C>T MYRF(NM_001127392.2):c.618C>T (p.Y206=) - C11orf9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674C>T r.(?) p.(Ser225Phe) Unknown - VUS g.61537958C>T g.61770486C>T MYRF(NM_001127392.1):c.701C>T (p.(Ser234Phe)) - C11orf9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.722C>T r.(?) p.(Thr241Ile) Unknown - likely benign g.61538980C>T - MYRF(NM_001127392.1):c.749C>T (p.(Thr250Ile)) - C11orf9_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.789delC r.(?) p.(Ser264Alafs*8) Unknown - pathogenic g.61539020del g.61771548del MYRF c.789delC, p.S264fs (het) - C11orf9_000032 heterozygous PubMed: Guo 2019 - - De novo ? GnomAD: 0 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 8 PubMed: Guo 2019 Trio number 8 F - China Chinese - - - - 1 LOVD
+/. - c.789dupC r.(?) p.(Ser264Glnfs*74) Unknown - pathogenic g.61539020dup g.61771548dup MYRF c.789dupC, p.S264fs (het) - C11orf9_000033 heterozygous PubMed: Guo 2019 - - De novo ? GnomAD: 0 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease 10 PubMed: Guo 2019 Trio number 10 F - China Chinese - - - - 1 LOVD
-?/. - c.818T>C r.(?) p.(Val273Ala) Unknown - likely benign g.61539076T>C - - - C11orf9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.844C>T r.(?) p.(Arg282*) Unknown - likely pathogenic g.61539102C>T - - - C11orf9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.845G>A r.(?) p.(Arg282Gln) Unknown - VUS g.61539103G>A - MYRF(NM_001127392.3):c.872G>A (p.R291Q) - C11orf9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.887del r.(?) p.(Pro296Argfs*100) Unknown - likely pathogenic g.61539145del - MYRF(NM_001127392.3):c.914delC (p.P305Rfs*100) - C11orf9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.944C>T r.(?) p.(Pro315Leu) Unknown - likely benign g.61539202C>T - MYRF(NM_001127392.3):c.971C>T (p.P324L) - C11orf9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089-10G>C r.(=) p.(=) Unknown - likely benign g.61541429G>C - MYRF(NM_001127392.2):c.1116-10G>C - C11orf9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089-8C>T r.(=) p.(=) Unknown - likely benign g.61541431C>T - MYRF(NM_001127392.3):c.1116-8C>T - C11orf9_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089-3dup r.spl? p.? Unknown - likely benign g.61541436dup - MYRF(NM_001127392.3):c.1116-3dupC - C11orf9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089-2A>C r.spl? p.? Unknown - likely benign g.61541437A>C g.61773965A>C MYRF(NM_001127392.1):c.1116-2A>C (p.?) - C11orf9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089-2_1089del r.spl? p.? Unknown - likely benign g.61541437_61541439del - MYRF(NM_001127392.1):c.1116-2_1116delAGG (p.(Met374fs)) - C11orf9_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1108G>A r.(?) p.(Val370Met) Unknown - VUS g.61541458G>A - MYRF(NM_001127392.3):c.1135G>A (p.V379M) - C11orf9_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1113T>C r.(?) p.(Asp371=) Unknown - likely benign g.61541463T>C g.61773991T>C MYRF(NM_001127392.2):c.1140T>C (p.D380=) - C11orf9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1143C>T r.(?) p.(Gly381=) Unknown - VUS g.61541493C>T - MYRF(NM_001127392.3):c.1170C>T (p.G390=) - C11orf9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1181A>G r.(?) p.(Gln394Arg) Parent #1 - pathogenic (dominant) g.61541531A>G g.61774059A>G NM_001127392.1:c.1208A>G (Gln403Arg) - C11orf9_000002 - PubMed: Kurahashi 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ENC 29265453-FamA PubMed: Kurahashi 2018 4-generation family, 6 affected (5F, M) F;M no Japan - - - - - 6 Johan den Dunnen
+/. - c.1181A>G r.(?) p.(Gln394Arg) Maternal (confirmed) - pathogenic (dominant) g.61541531A>G g.61774059A>G NM_001127392.1:c.1208A>G (Gln403Arg) - C11orf9_000002 - PubMed: Kurahashi 2018 - - Germline yes - - - - DNA SEQ - - ENC 29265453-FamB PubMed: Kurahashi 2018 2-generation family, 3 affected (3F), unaffected carrier mother F - Japan - - - - - 3 Johan den Dunnen
-?/. - c.1197C>T r.(?) p.(Ile399=) Unknown - likely benign g.61541547C>T - MYRF(NM_001127392.3):c.1224C>T (p.I408=) - C11orf9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1221C>T r.(?) p.(=) Unknown - likely benign g.61541571C>T - MYRF(NM_001127392.3):c.1248C>T (p.Y416=) - C11orf9_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1222G>A r.(?) p.(Val408Ile) Unknown - VUS g.61541572G>A - MYRF(NM_001127392.3):c.1249G>A (p.(Val417Ile)) - C11orf9_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1227_1228dup r.(?) p.(Thr410Argfs*14) Unknown - pathogenic (dominant) g.61541577_61541578dup g.61774105_61774106dup NM_001127392.2:c.1254_1255dupGA - C11orf9_000005 - PubMed: Chitayat 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 30070761-Pat PubMed: Chitayat 2018 2-generation family, affected fetus, unaffected non-carrier parents - - Canada - <00y00m00d - - - 1 Johan den Dunnen
-/. - c.1242C>T r.(?) p.(=) Unknown - benign g.61541592C>T - MYRF(NM_001127392.3):c.1269C>T (p.L423=) - C11orf9_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1284+254A>G r.(=) p.(=) Both (homozygous) - VUS g.61541888A>G g.61774416A>G - - C11orf9_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.1433G>C r.(?) p.(Arg478Pro) Unknown - likely pathogenic g.61543838G>C g.61776366G>C MYRF c.1433G>C, p.R478P (het) - C11orf9_000034 heterozygous PubMed: Guo 2019 - - De novo ? GnomAD: 0 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease V1 PubMed: Guo 2019 Trio number V1 F - China Chinese - - - - 1 LOVD
-?/. - c.1533C>T r.(?) p.(Ala511=) Unknown - likely benign g.61544319C>T - MYRF(NM_001127392.2):c.1560C>T (p.A520=) - C11orf9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1563G>T r.(?) p.(Arg521=) Unknown - likely pathogenic g.61544349G>T - - - C11orf9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1588A>G r.(?) p.(Ser530Gly) Unknown - likely benign g.61544760A>G - MYRF(NM_001127392.1):c.1615A>G (p.(Ser539Gly)) - C11orf9_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1609C>T r.(?) p.(Gln537Ter) Unknown - likely pathogenic g.61544781C>T - - - C11orf9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1632C>G r.(?) p.(Thr544=) Unknown - likely benign g.61544804C>G g.61777332C>G MYRF(NM_001127392.2):c.1659C>G (p.T553=), MYRF(NM_001127392.3):c.1659C>G (p.T553=) - C11orf9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1632C>G r.(?) p.(Thr544=) Unknown - likely benign g.61544804C>G - MYRF(NM_001127392.2):c.1659C>G (p.T553=), MYRF(NM_001127392.3):c.1659C>G (p.T553=) - C11orf9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1877-1G>C r.spl? p.? Unknown - pathogenic g.61545851G>C - MYRF(NM_001127392.2):c.1904-1G>C - C11orf9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1929C>T r.(?) p.(Thr643=) Unknown - likely benign g.61545904C>T - MYRF(NM_001127392.3):c.1956C>T (p.T652=) - C11orf9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1987-16_1987-3del r.spl? p.? Unknown - likely benign g.61546719_61546732del - MYRF(NM_001127392.3):c.2014-16_2014-3del - C11orf9_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1987-9_1987-3del r.spl? p.? Unknown - likely benign g.61546726_61546732del - MYRF(NM_001127392.3):c.2014-9_2014-3del - C11orf9_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1987-9_1987-3dup r.spl? p.? Unknown - likely benign g.61546726_61546732dup - MYRF(NM_001127392.3):c.2014-9_2014-3dup - C11orf9_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2008G>A r.(?) p.(Val670Ile) Unknown - VUS g.61546756G>A - MYRF(NM_001127392.2):c.2035G>A (p.V679I), MYRF(NM_001127392.3):c.2035G>A (p.V679I) - C11orf9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2008G>A r.(?) p.(Val670Ile) Unknown - VUS g.61546756G>A - MYRF(NM_001127392.2):c.2035G>A (p.V679I), MYRF(NM_001127392.3):c.2035G>A (p.V679I) - C11orf9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2127C>T r.(?) p.(Thr709=) Unknown - likely benign g.61546875C>T - MYRF(NM_001127392.2):c.2154C>T (p.T718=) - C11orf9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2174C>T r.(?) p.(Ala725Val) Unknown - likely benign g.61546996C>T - MYRF(NM_001127392.3):c.2201C>T (p.A734V) - C11orf9_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2200C>T r.(?) p.(Pro734Ser) Unknown - likely benign g.61547022C>T - MYRF(NM_001127392.3):c.2227C>T (p.(Pro743Ser)) - C11orf9_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2230G>A r.(?) p.(Val744Met) Unknown - likely benign g.61547323G>A - MYRF(NM_001127392.3):c.2257G>A (p.(Val753Met)) - C11orf9_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2309+1G>A r.spl p.? Unknown - pathogenic (dominant) g.61547403G>A g.61779931G>A NM_001127392.2:c.2336+1G>A - C11orf9_000003 - PubMed: Pinz 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 29446546-Pat1 PubMed: Pinz 2018 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
?/. - c.2379-236C>T r.(=) p.(=) Unknown - VUS g.61548193C>T g.61780721C>T MYRF(NM_001127392.1):c.2415C>T (p.(=)) - C11orf9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2379-164G>A r.(=) p.(=) Unknown - pathogenic g.61548265G>A - - - C11orf9_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2379-156T>C r.(=) p.(=) Unknown - likely benign g.61548273T>C - MYRF(NM_001127392.3):c.2486+9T>C - C11orf9_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2413C>T r.(?) p.(Arg805*) Unknown - pathogenic (dominant) g.61548463C>T g.61780991C>T c.2518C>T (R840X) - C11orf9_000004 - PubMed: Pinz 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 29446546-Pat2 PubMed: Pinz 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United States - 00y00m10d - - - 1 Johan den Dunnen
+?/. - c.2467+5G>A r.spl? p.? Unknown - likely pathogenic g.61548522G>A - - - C11orf9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2603del r.(?) p.(Ser868Thrfs*109) Unknown - likely pathogenic g.61548745del - - - C11orf9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2659+2del r.spl? p.? Unknown - likely pathogenic g.61548803del - - - C11orf9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2696T>G r.(?) p.(Ile899Ser) Unknown - VUS g.61549081T>G - MYRF(NM_001127392.3):c.2801T>G (p.I934S) - C11orf9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2849G>A r.(?) p.(Arg950His) Unknown - VUS g.61549234G>A - MYRF(NM_001127392.3):c.2954G>A (p.R985H) - C11orf9_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2912-13T>A r.(=) p.(=) Unknown - VUS g.61550972T>A - MYRF(NM_001127392.3):c.3019T>A (p.(Ser1007Thr)) - C11orf9_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2956C>T r.(?) p.(Arg986*) Unknown - likely pathogenic g.61549236C>T g.61781764C>T MYRF c.2956C>T, p.R986X (het) - C11orf9_000035 heterozygous PubMed: Guo 2019 - - Unknown ? GnomAD: 0 - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing of trios retinal disease Case 2 PubMed: Guo 2019 Sporadic case number 2 M - China Chinese - - - - 1 LOVD
?/. - c.3036T>G r.(?) p.(Ser1012Arg) Unknown - VUS g.61551359T>G - MYRF(NM_001127392.3):c.3156T>G (p.(Ser1052Arg)) - C11orf9_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3087C>T r.(?) p.(=) Unknown - likely benign g.61551764C>T - MYRF(NM_001127392.3):c.3207C>T (p.(Pro1069=)) - C11orf9_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3172del r.(?) p.(Asp1058Thrfs*11) Unknown - likely pathogenic g.61551849del - MYRF(NM_001127392.3):c.3292delG (p.D1098Tfs*11) - C11orf9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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