Full data view for gene ARMC5

Information The variants shown are described using the NM_024742.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.-4287695_*412162dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-3370845_*3123478del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
?/. - c.-59A>G r.(?) p.(=) Unknown - VUS g.31470787A>G g.31459466A>G ARMC5(NM_024742.2):c.-59A>G - ARMC5_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.41T>A r.(?) p.(Phe14Tyr) Unknown - benign g.31470886T>A g.31459565T>A ARMC5(NM_001105247.1):c.41T>A (p.(Phe14Tyr)) - ARMC5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.41T>A r.(?) p.(Phe14Tyr) Unknown - benign g.31470886T>A - ARMC5(NM_001105247.1):c.41T>A (p.(Phe14Tyr)) - ARMC5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212T>C r.(?) p.(Leu71Pro) Unknown - VUS g.31471057T>C g.31459736T>C - - ARMC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282G>C r.(?) p.(Ser94=) Unknown - likely benign g.31471127G>C g.31459806G>C ARMC5(NM_024742.2):c.282G>C (p.S94=) - ARMC5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294G>T r.(?) p.(Ser98=) Unknown - likely benign g.31471139G>T - ARMC5(NM_001105247.2):c.294G>T (p.S98=) - ARMC5_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418T>C r.(?) p.(Cys140Arg) Unknown - VUS g.31471263T>C g.31459942T>C - - ARMC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432G>T r.(?) p.(Ala144=) Unknown - likely benign g.31471277G>T - ARMC5(NM_024742.2):c.432G>T (p.A144=) - ARMC5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.432G>T r.(?) p.(Ala144=) Unknown - likely benign g.31471277G>T - ARMC5(NM_024742.2):c.432G>T (p.A144=) - ARMC5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.438G>A r.(?) p.(Arg146=) Unknown - benign g.31471283G>A g.31459962G>A - - ARMC5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.476-2A>T r.spl? p.? Unknown - pathogenic g.31473241A>T g.31461920A>T - - ARMC5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508A>G r.(?) p.(Ile170Val) Unknown - benign g.31473275A>G g.31461954A>G ARMC5(NM_001105247.1):c.508A>G (p.(Ile170Val)) - ARMC5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508A>G r.(?) p.(Ile170Val) Unknown - benign g.31473275A>G - ARMC5(NM_001105247.1):c.508A>G (p.(Ile170Val)) - ARMC5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617C>G r.(?) p.(Ala206Gly) Unknown - VUS g.31473485C>G g.31462164C>G ARMC5(NM_001105247.1):c.617C>G (p.(Ala206Gly)) - ARMC5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.968G>C r.(?) p.(Gly323Ala) Unknown - likely benign g.31473836G>C - ARMC5(NM_001105247.2):c.968G>C (p.G323A) - ARMC5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1223A>G r.(?) p.(Gln408Arg) Unknown - likely benign g.31474091A>G g.31462770A>G ARMC5(NM_024742.2):c.1223A>G (p.Q408R) - ARMC5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1223A>G r.(?) p.(Gln408Arg) Unknown - likely benign g.31474091A>G - ARMC5(NM_024742.2):c.1223A>G (p.Q408R) - ARMC5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1264G>A r.(?) p.(Gly422Ser) Unknown - likely benign g.31474132G>A - ARMC5(NM_001105247.2):c.1264G>A (p.G422S) - ARMC5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1311G>T r.(?) p.(Trp437Cys) Unknown - VUS g.31474179G>T - ARMC5(NM_024742.2):c.1311G>T (p.W437C) - ARMC5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1371-17C>T r.(=) p.(=) Unknown - likely benign g.31475698C>T - - - ARMC5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1371-3C>A r.spl? p.? Parent #1 - VUS g.31475712C>A g.31464391C>A - - ARMC5_000012 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
+/. - c.1428G>A r.(?) p.(Trp476Ter) Unknown - pathogenic g.31475772G>A g.31464451G>A - - ARMC5_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1520C>T r.(?) p.(Pro507Leu) Unknown - benign g.31475864C>T g.31464543C>T - - ARMC5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1546G>T r.(?) p.(Glu516Ter) Unknown - pathogenic g.31475890G>T g.31464569G>T - - ARMC5_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641G>A r.(?) p.(Ala547=) Unknown - likely benign g.31475985G>A - - - ARMC5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1648G>A r.(?) p.(Gly550Ser) Unknown - VUS g.31475992G>A g.31464671G>A ARMC5(NM_024742.2):c.1648G>A (p.G550S) - ARMC5_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1676C>T r.(?) p.(Pro559Leu) Unknown - VUS g.31476020C>T g.31464699C>T ARMC5(NM_024742.2):c.1676C>T (p.P559L) - ARMC5_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1842C>G r.(?) p.(Leu614=) Unknown - benign g.31476186C>G g.31464865C>G - - ARMC5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1855C>T r.(?) p.(Arg619*) Unknown - pathogenic g.31476199C>T - - - ARMC5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1953C>T r.(?) p.(Pro651=) Unknown - likely benign g.31476297C>T g.31464976C>T ARMC5(NM_024742.2):c.1953C>T (p.P651=) - ARMC5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*663C>T r.(=) p.(=) Unknown - pathogenic g.31477185C>T - - - ARMC5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*938G>A r.(=) p.(=) Unknown - benign g.31477460G>A g.31466139G>A - - ARMC5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1072C>G r.(=) p.(=) Unknown - VUS g.31477594C>G g.31466273C>G ARMC5(NM_001301820.1):c.2288C>G (p.P763R) - ARMC5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1072C>G r.(=) p.(=) Unknown - likely benign g.31477594C>G g.31466273C>G ARMC5(NM_001301820.1):c.2288C>G (p.P763R) - ARMC5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1072C>G r.(=) p.(=) Parent #2 - VUS g.31477594C>G g.31466273C>G - - ARMC5_000020 - PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
-/. - c.*1136C>T r.(=) p.(=) Unknown - benign g.31477658C>T - ARMC5(NM_001105247.2):c.2256C>T (p.F752=) - ARMC5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1258G>A r.(=) p.(=) Unknown - VUS g.31477780G>A g.31466459G>A ARMC5(NM_001105247.1):c.2378G>A (p.(Arg793Gln)), ARMC5(NM_001301820.1):c.2474G>A (p.R825Q) - ARMC5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1258G>A r.(=) p.(=) Unknown - VUS g.31477780G>A - ARMC5(NM_001105247.1):c.2378G>A (p.(Arg793Gln)), ARMC5(NM_001301820.1):c.2474G>A (p.R825Q) - ARMC5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1329C>T r.(=) p.(=) Unknown - likely benign g.31477851C>T g.31466530C>T - - ARMC5_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1505G>T r.(=) p.(=) Unknown - likely benign g.31478027G>T g.31466706G>T ARMC5(NM_001301820.1):c.2721G>T (p.L907=) - ARMC5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1572C>T r.(=) p.(=) Unknown - likely pathogenic g.31478094C>T - - - ARMC5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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