Unique variants in the ARMCX4 gene

Information The variants shown are described using the NM_001256155.1 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-75087C>T r.(?) p.(=) - likely benign g.100668146C>T - HNRNPH2(NM_001032393.2):c.1170C>T (p.G390=) - HNRNPH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.? r.(=) p.(=) - VUS g.100742635A>G, g.? g.101487648A>G ENSG00000196440 246C>T Y82Y, ENSG00000196440 526A>G R176G, ENSG00000196440 81C>T Y27Y - ARMCX4_000000 recurrent, found 128 times, recurrent, found 143 times, recurrent, found 25 times PubMed: Tarpey 2009 - - Germline - 128/208 cases, 143/208 cases, 25/208 cases - - - Lucy Raymond
-?/. 1 - c.269A>T r.(?) p.(Lys90Met) - likely benign g.100743845A>T g.101488858A>T ARMCX4(NM_001256155.1):c.269A>T (p.(Lys90Met)) - ARMCX4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.296C>G r.(?) p.(Ala99Gly) - likely benign g.100743872C>G g.101488885C>G ARMCX4(NM_001256155.2):c.296C>G (p.A99G) - ARMCX4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.563C>A r.(?) p.(Thr188Asn) - VUS g.100744139C>A - ARMCX4(NM_001256155.2):c.563C>A (p.T188N) - ARMCX4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.901A>G r.(?) p.(Met301Val) - likely benign g.100744477A>G - ARMCX4(NM_001256155.2):c.901A>G (p.M301V) - ARMCX4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.979A>G r.(?) p.(Lys327Glu) - likely benign g.100744555A>G g.101489568A>G ARMCX4(NM_001256155.2):c.979A>G (p.K327E) - ARMCX4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1504G>A r.(?) p.(Glu502Lys) - likely benign g.100745080G>A g.101490093G>A ARMCX4(NM_001256155.1):c.1504G>A (p.(Glu502Lys)), ARMCX4(NM_001256155.2):c.1504G>A (p.E502K) - ARMCX4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1563A>G r.(?) p.(Leu521=) - likely benign g.100745139A>G - ARMCX4(NM_001256155.2):c.1563A>G (p.L521=) - ARMCX4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1939A>G r.(?) p.(Lys647Glu) - VUS g.100745515A>G g.101490528A>G ARMCX4(NM_001256155.1):c.1939A>G (p.(Lys647Glu)) - ARMCX4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2254G>A r.(?) p.(Ala752Thr) - likely benign g.100745830G>A g.101490843G>A ARMCX4(NM_001256155.1):c.2254G>A (p.(Ala752Thr)) - ARMCX4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2260G>A r.(?) p.(Ala754Thr) - VUS g.100745836G>A g.101490849G>A ARMCX4(NM_001256155.1):c.2260G>A (p.(Ala754Thr)) - ARMCX4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2436G>T r.(?) p.(Trp812Cys) - likely benign g.100746012G>T g.101491025G>T ARMCX4(NM_001256155.1):c.2436G>T (p.(Trp812Cys)) - ARMCX4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2744A>G r.(?) p.(Asn915Ser) - likely benign g.100746320A>G g.101491333A>G ARMCX4(NM_001256155.1):c.2744A>G (p.(Asn915Ser)) - ARMCX4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2834T>C r.(?) p.(Met945Thr) - likely benign g.100746410T>C g.101491423T>C ARMCX4(NM_001256155.2):c.2834T>C (p.M945T) - ARMCX4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3093G>T r.(?) p.(Gln1031His) - VUS g.100746669G>T - ARMCX4(NM_001256155.2):c.3093G>T (p.Q1031H) - ARMCX4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3095T>C r.(?) p.(Ile1032Thr) - likely benign g.100746671T>C g.101491684T>C ARMCX4(NM_001256155.1):c.3095T>C (p.(Ile1032Thr)) - ARMCX4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3134G>C r.(?) p.(Arg1045Thr) - VUS g.100746710G>C g.101491723G>C ARMCX4(NM_001256155.1):c.3134G>C (p.(Arg1045Thr)) - ARMCX4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3377G>A r.(?) p.(Ser1126Asn) - likely benign g.100746953G>A g.101491966G>A ARMCX4(NM_001256155.2):c.3377G>A (p.S1126N) - ARMCX4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3661G>C r.(?) p.(Gly1221Arg) - likely benign g.100747237G>C g.101492250G>C ARMCX4(NM_001256155.1):c.3661G>C (p.(Gly1221Arg)) - ARMCX4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3679G>A r.(?) p.(Ala1227Thr) - likely benign g.100747255G>A g.101492268G>A ARMCX4(NM_001256155.1):c.3679G>A (p.(Ala1227Thr)) - ARMCX4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4161G>A r.(?) p.(Gly1387=) - likely benign g.100747737G>A - ARMCX4(NM_001256155.2):c.4161G>A (p.G1387=) - ARMCX4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4505C>T r.(?) p.(Thr1502Ile) - VUS g.100748081C>T - ARMCX4(NM_001256155.2):c.4505C>T (p.T1502I) - ARMCX4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4553C>T r.(?) p.(Thr1518Met) - VUS g.100748129C>T g.101493142C>T ARMCX4(NM_001256155.2):c.4553C>T (p.T1518M) - ARMCX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4766C>T r.(?) p.(Ala1589Val) - VUS g.100748342C>T g.101493355C>T ARMCX4(NM_001256155.1):c.4766C>T (p.(Ala1589Val)) - ARMCX4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4798G>A r.(?) p.(Gly1600Arg) - VUS g.100748374G>A g.101493387G>A ARMCX4(NM_001256155.2):c.4798G>A (p.G1600R) - ARMCX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4859G>T r.(?) p.(Gly1620Val) - likely benign g.100748435G>T g.101493448G>T ARMCX4(NM_001256155.1):c.4859G>T (p.(Gly1620Val)) - ARMCX4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.4996G>A r.(?) p.(Ala1666Thr) - VUS g.100748572G>A g.101493585G>A ARMCX4(NM_001256155.1):c.4996G>A (p.(Ala1666Thr)) - ARMCX4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5334G>A r.(?) p.(Met1778Ile) - likely benign g.100748910G>A g.101493923G>A ARMCX4(NM_001256155.1):c.5334G>A (p.(Met1778Ile)) - ARMCX4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5417G>A r.(?) p.(Cys1806Tyr) - likely benign g.100748993G>A g.101494006G>A ARMCX4(NM_001256155.2):c.5417G>A (p.C1806Y) - ARMCX4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5440_5441insAGGCTC r.(?) p.(Gly1814delinsGluAlaArg) - likely benign g.100749016_100749017insAGGCTC g.101494029_101494030insAGGCTC ARMCX4(NM_001256155.1):c.5440_5441insAGGCTC (p.(Gly1814delinsGluAlaArg)) - ARMCX4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5462C>T r.(?) p.(Ala1821Val) - likely benign g.100749038C>T g.101494051C>T ARMCX4(NM_001256155.1):c.5462C>T (p.(Ala1821Val)) - ARMCX4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5465A>G r.(?) p.(Glu1822Gly) - VUS g.100749041A>G g.101494054A>G ARMCX4(NM_001256155.1):c.5465A>G (p.(Glu1822Gly)) - ARMCX4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5512G>A r.(?) p.(Gly1838Arg) - VUS g.100749088G>A g.101494101G>A ARMCX4(NM_001256155.1):c.5512G>A (p.(Gly1838Arg)) - ARMCX4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5560T>C r.(?) p.(Trp1854Arg) - likely benign g.100749136T>C g.101494149T>C ARMCX4(NM_001256155.1):c.5560T>C (p.(Trp1854Arg)) - ARMCX4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5648G>T r.(?) p.(Gly1883Val) - VUS g.100749224G>T - ARMCX4(NM_001256155.2):c.5648G>T (p.G1883V) - ARMCX4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.6000G>T r.(?) p.(Lys2000Asn) - VUS g.100749576G>T g.101494589G>T ARMCX4(NM_001256155.1):c.6000G>T (p.(Lys2000Asn)) - ARMCX4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6012A>C r.(?) p.(Gln2004His) - likely benign g.100749588A>C g.101494601A>C ARMCX4(NM_001256155.1):c.6012A>C (p.(Gln2004His)) - ARMCX4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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