Full data view for gene ARMC4

Information The variants shown are described using the NM_018076.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

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.278T>G r.(?) p.(Phe93Cys) Unknown - VUS g.28276419A>C - ODAD2(NM_018076.5):c.278T>G (p.F93C) - ARMC4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.383-7_383-6del r.(=) p.(=) Unknown - benign g.28274158_28274159del g.27985229_27985230del ARMC4(NM_001290020.1):c.383-7_383-6delTT - ARMC4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.390A>G r.(?) p.(=) Unknown - VUS g.28274133T>C - ARMC4(NM_018076.5):c.390A>G (p.(Arg130=)) - ARMC4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457A>G r.(?) p.(Ile153Val) Unknown - likely benign g.28274066T>C g.27985137T>C ARMC4(NM_018076.2):c.457A>G (p.(Ile153Val)) - ARMC4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575+4A>T r.spl? p.? Unknown - VUS g.28273944T>A - ARMC4(NM_001290020.1):c.575+4A>T - ARMC4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.883G>C r.(?) p.(Val295Leu) Parent #1 - benign g.28270448C>G g.27981519C>G - - ARMC4_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143215183 Germline - 1/2781 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.883G>C r.(?) p.(Val295Leu) Unknown - likely benign g.28270448C>G - ARMC4(NM_018076.5):c.883G>C (p.(Val295Leu)) - ARMC4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1017C>T r.(?) p.(Leu339=) Unknown - benign g.28260162G>A g.27971233G>A ARMC4(NM_001290020.1):c.1017C>T (p.L339=) - ARMC4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1082del r.(?) p.(Asn361IlefsTer3) Unknown - pathogenic g.28260098del - ARMC4(NM_001290020.1):c.1082delA (p.N361Ifs*3) - ARMC4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1619T>C r.(?) p.(Met540Thr) Unknown - VUS g.28233275A>G g.27944346A>G ARMC4(NM_001290020.1):c.1619T>C (p.M540T) - ARMC4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1709G>A r.(?) p.(Arg570Gln) Unknown - VUS g.28233185C>T g.27944256C>T ARMC4(NM_018076.2):c.1709G>A (p.(Arg570Gln)), ODAD2(NM_001290020.2):c.1709G>A (p.R570Q) - ARMC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1709G>A r.(?) p.(Arg570Gln) Unknown - VUS g.28233185C>T g.27944256C>T ARMC4(NM_018076.2):c.1709G>A (p.(Arg570Gln)), ODAD2(NM_001290020.2):c.1709G>A (p.R570Q) - ARMC4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1709G>A r.(?) p.(Arg570Gln) Unknown - likely benign g.28233185C>T g.27944256C>T - - ARMC4_000005 - PubMed: Alsamri 2021 - rs140569195 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
?/. - c.1757A>G r.(?) p.(Asp586Gly) Unknown - VUS g.28229721T>C - ARMC4(NM_018076.5):c.1757A>G (p.(Asp586Gly)) - ARMC4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1886G>A r.(?) p.(Arg629His) Unknown - likely benign g.28229592C>T g.27940663C>T - - ARMC4_000036 - PubMed: Alsamri 2021 - rs200127444 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1972G>T r.(?) p.(Glu658Ter) Unknown - pathogenic g.28229506C>A g.27940577C>A ODAD2(NM_001290020.2):c.1972G>T (p.E658*) - ARMC4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2119C>T r.(?) p.(Arg707Trp) Parent #1 - VUS g.28225788G>A g.27936859G>A - - ARMC4_000020 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145133998 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.2211G>A r.(?) p.(Gly737=) Unknown - likely benign g.28225696C>T g.27936767C>T ARMC4(NM_001290020.1):c.2211G>A (p.G737=) - ARMC4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2219G>A r.(?) p.(Trp740Ter) Unknown - pathogenic g.28225688C>T g.27936759C>T ARMC4(NM_001290020.1):c.2219G>A (p.W740*), ODAD2(NM_001290020.2):c.2219G>A (p.W740*) - ARMC4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2219G>A r.(?) p.(Trp740Ter) Unknown - pathogenic g.28225688C>T - ARMC4(NM_001290020.1):c.2219G>A (p.W740*), ODAD2(NM_001290020.2):c.2219G>A (p.W740*) - ARMC4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2264_2265insT r.(?) p.(Lys756Glnfs*4) Unknown - pathogenic g.28224169_28224170insA - ODAD2(NM_001290020.2):c.2264_2265insT (p.K756Qfs*4) - ARMC4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2342G>T r.(?) p.(Gly781Val) Parent #1 - likely benign g.28224092C>A g.27935163C>A - - ARMC4_000019 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145619075 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.2342G>T r.(?) p.(Gly781Val) Unknown - VUS g.28224092C>A - ARMC4(NM_001290020.1):c.2342G>T (p.G781V), ARMC4(NM_018076.2):c.2342G>T (p.(Gly781Val)), ODAD2(NM_018076.5):c.2342G>T (p.G781V) - ARMC4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2342G>T r.(?) p.(Gly781Val) Unknown - VUS g.28224092C>A - ARMC4(NM_001290020.1):c.2342G>T (p.G781V), ARMC4(NM_018076.2):c.2342G>T (p.(Gly781Val)), ODAD2(NM_018076.5):c.2342G>T (p.G781V) - ARMC4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2342G>T r.(?) p.(Gly781Val) Unknown - VUS g.28224092C>A - ARMC4(NM_001290020.1):c.2342G>T (p.G781V), ARMC4(NM_018076.2):c.2342G>T (p.(Gly781Val)), ODAD2(NM_018076.5):c.2342G>T (p.G781V) - ARMC4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2495+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.28223938C>T g.27935009C>T - - ARMC4_000029 ACMG: PVS1, PM2_SUP, PM3_SUP (PMID:23849778) - VCV000242857.7 - Germline - - - - - DNA SEQ-NG-I Blood - CILD23 258275 - - F yes Germany - - - - - 1 Andreas Laner
?/. - c.2521C>T r.(?) p.(Arg841Cys) Unknown - VUS g.28196681G>A - ARMC4(NM_018076.5):c.2521C>T (p.(Arg841Cys)) - ARMC4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2593T>C r.(?) p.(Cys865Arg) Unknown - VUS g.28196609A>G - ARMC4(NM_018076.5):c.2593T>C (p.(Cys865Arg)) - ARMC4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2610+2705T>G r.(=) p.(=) Both (homozygous) - VUS g.28193887A>C g.27904958A>C - - ARMC4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2610+2705T>G r.(=) p.(=) Both (homozygous) - VUS g.28193887A>C g.27904958A>C - - ARMC4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2610+3560G>A r.(=) p.(=) Both (homozygous) - VUS g.28193032C>T g.27904103C>T - - ARMC4_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.2800-3C>G r.spl? p.? Unknown - likely pathogenic g.28149778G>C - ARMC4(NM_001290020.1):c.2800-3C>G, ODAD2(NM_001290020.2):c.2800-3C>G - ARMC4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2800-3C>G r.spl? p.? Unknown - VUS g.28149778G>C - ARMC4(NM_001290020.1):c.2800-3C>G, ODAD2(NM_001290020.2):c.2800-3C>G - ARMC4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2840C>A r.(?) p.(Ser947Ter) Unknown - pathogenic g.28149735G>T - ARMC4(NM_001290020.1):c.2840C>A (p.S947*) - ARMC4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2935G>A r.(?) p.(Val979Met) Unknown - likely benign g.28149640C>T g.27860711C>T - - ARMC4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2935G>A r.(?) p.(Val979Met) Parent #1 - VUS g.28149640C>T g.27860711C>T - - ARMC4_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150655393 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2965C>T r.(?) p.(Gln989*) Unknown - VUS g.28149610G>A - ARMC4(NM_018076.5):c.2965C>T (p.(Gln989*)) - ARMC4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3021+7256_3021+7259dup r.(=) p.(=) Unknown - likely benign g.28142320_28142323dup g.27853391_27853394dup ARMC4(NM_001290020.2):c.3021+7256_3021+7259dupTTAT - ARMC4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3021+7256_3021+7259dup r.(=) p.(=) Unknown - likely benign g.28142320_28142323dup - ODAD2(NM_001290020.2):c.3021+7256_3021+7259dupTTAT - ARMC4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3021+7258_3021+7259insGTTATTAA r.(=) p.(=) Unknown - likely benign g.28142296_28142297insTAATAACT - ARMC4(NM_001290021.2):c.1597-4_1597-3insGTTATTAA - ARMC4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3021+7285_3021+7296del r.(=) p.(=) Unknown - VUS g.28142261_28142272del - ARMC4(NM_001290021.2):c.1620_1631del (p.(Arg540_Cys543del)) - ARMC4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3021+7301_3021+7302insTGCA r.(=) p.(=) Unknown - VUS g.28142254_28142255insCATG - ARMC4(NM_001290021.2):c.1636_1637insTGCA (p.(Asn546Metfs*25)) - ARMC4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3021+7335G>T r.(=) p.(=) Unknown - VUS g.28142219C>A - ARMC4(NM_001290021.1):c.1670G>T (p.G557V) - ARMC4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3021+7343C>T r.(=) p.(=) Unknown - VUS g.28142211G>A - ARMC4(NM_001290021.2):c.1678C>T (p.(Arg560Ter)) - ARMC4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.