Unique variants in gene ARMCX4

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

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. 3 - c.? - r.(=) p.(=) g.?, g.100742635A>G - ENSG00000196440 246C>T Y82Y, ENSG00000196440 526A>G R176G, ENSG00000196440 81C>T Y27Y - ARMCX4_000000 recurrent, found 25 times, recurrent, found 128 times, recurrent, found 143 times PubMed: Tarpey 2009 - - Germline - 25/208 cases, 128/208 cases, 143/208 cases - - - Lucy Raymond
-?/. 1 - c.269A>T likely benign r.(?) p.(Lys90Met) g.100743845A>T - ARMCX4(NM_001256155.1):c.269A>T (p.(Lys90Met)) - ARMCX4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.979A>G likely benign r.(?) p.(Lys327Glu) g.100744555A>G - ARMCX4(NM_001256155.2):c.979A>G (p.K327E) - ARMCX4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1504G>A likely benign r.(?) p.(Glu502Lys) g.100745080G>A - ARMCX4(NM_001256155.1):c.1504G>A (p.(Glu502Lys)) - ARMCX4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.1586G>A likely benign r.(?) p.(Arg529Lys) g.100745162G>A - ARMCX4(NM_001256155.1):c.1586G>A (p.(Arg529Lys)) - ARMCX4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1939A>G VUS r.(?) p.(Lys647Glu) g.100745515A>G - ARMCX4(NM_001256155.1):c.1939A>G (p.(Lys647Glu)) - ARMCX4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2254G>A likely benign r.(?) p.(Ala752Thr) g.100745830G>A - ARMCX4(NM_001256155.1):c.2254G>A (p.(Ala752Thr)) - ARMCX4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2436G>T likely benign r.(?) p.(Trp812Cys) g.100746012G>T - ARMCX4(NM_001256155.1):c.2436G>T (p.(Trp812Cys)) - ARMCX4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2744A>G likely benign r.(?) p.(Asn915Ser) g.100746320A>G - ARMCX4(NM_001256155.1):c.2744A>G (p.(Asn915Ser)) - ARMCX4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2834T>C likely benign r.(?) p.(Met945Thr) g.100746410T>C - ARMCX4(NM_001256155.2):c.2834T>C (p.M945T) - ARMCX4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3095T>C likely benign r.(?) p.(Ile1032Thr) g.100746671T>C - ARMCX4(NM_001256155.1):c.3095T>C (p.(Ile1032Thr)) - ARMCX4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3104G>T likely benign r.(?) p.(Gly1035Val) g.100746680G>T - ARMCX4(NM_001256155.1):c.3104G>T (p.(Gly1035Val)) - ARMCX4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3130G>T likely benign r.(?) p.(Ala1044Ser) g.100746706G>T - ARMCX4(NM_001256155.1):c.3130G>T (p.(Ala1044Ser)) - ARMCX4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3134G>C VUS r.(?) p.(Arg1045Thr) g.100746710G>C - ARMCX4(NM_001256155.1):c.3134G>C (p.(Arg1045Thr)) - ARMCX4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3377G>A likely benign r.(?) p.(Ser1126Asn) g.100746953G>A - ARMCX4(NM_001256155.2):c.3377G>A (p.S1126N) - ARMCX4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3661G>C likely benign r.(?) p.(Gly1221Arg) g.100747237G>C - ARMCX4(NM_001256155.1):c.3661G>C (p.(Gly1221Arg)) - ARMCX4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3679G>A likely benign r.(?) p.(Ala1227Thr) g.100747255G>A - ARMCX4(NM_001256155.1):c.3679G>A (p.(Ala1227Thr)) - ARMCX4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3860G>A likely benign r.(?) p.(Ser1287Asn) g.100747436G>A - ARMCX4(NM_001256155.1):c.3860G>A (p.(Ser1287Asn)) - ARMCX4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4553C>T VUS r.(?) p.(Thr1518Met) g.100748129C>T - ARMCX4(NM_001256155.2):c.4553C>T (p.T1518M) - ARMCX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4766C>T VUS r.(?) p.(Ala1589Val) g.100748342C>T - ARMCX4(NM_001256155.1):c.4766C>T (p.(Ala1589Val)) - ARMCX4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4798G>A VUS r.(?) p.(Gly1600Arg) g.100748374G>A - ARMCX4(NM_001256155.2):c.4798G>A (p.G1600R) - ARMCX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4859G>T likely benign r.(?) p.(Gly1620Val) g.100748435G>T - ARMCX4(NM_001256155.1):c.4859G>T (p.(Gly1620Val)) - ARMCX4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4996G>A VUS r.(?) p.(Ala1666Thr) g.100748572G>A - ARMCX4(NM_001256155.1):c.4996G>A (p.(Ala1666Thr)) - ARMCX4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5334G>A likely benign r.(?) p.(Met1778Ile) g.100748910G>A - ARMCX4(NM_001256155.1):c.5334G>A (p.(Met1778Ile)) - ARMCX4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.5417G>A likely benign r.(?) p.(Cys1806Tyr) g.100748993G>A - ARMCX4(NM_001256155.1):c.5417G>A (p.(Cys1806Tyr)) - ARMCX4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.5441_5442insAGGCTC likely benign r.(?) p.(Gly1814_Ala1815insGlySer) g.100749017_100749018insAGGCTC - ARMCX4(NM_001256155.1):c.5440_5441insAGGCTC (p.(Gly1814delinsGluAlaArg)) - ARMCX4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5462C>T likely benign r.(?) p.(Ala1821Val) g.100749038C>T - ARMCX4(NM_001256155.1):c.5462C>T (p.(Ala1821Val)) - ARMCX4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5465A>G VUS r.(?) p.(Glu1822Gly) g.100749041A>G - ARMCX4(NM_001256155.1):c.5465A>G (p.(Glu1822Gly)) - ARMCX4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5490G>C likely benign r.(?) p.(Glu1830Asp) g.100749066G>C - ARMCX4(NM_001256155.1):c.5490G>C (p.(Glu1830Asp)) - ARMCX4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5512G>A VUS r.(?) p.(Gly1838Arg) g.100749088G>A - ARMCX4(NM_001256155.1):c.5512G>A (p.(Gly1838Arg)) - ARMCX4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5560T>C likely benign r.(?) p.(Trp1854Arg) g.100749136T>C - ARMCX4(NM_001256155.1):c.5560T>C (p.(Trp1854Arg)) - ARMCX4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.6000G>T VUS r.(?) p.(Lys2000Asn) g.100749576G>T - ARMCX4(NM_001256155.1):c.6000G>T (p.(Lys2000Asn)) - ARMCX4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.6012A>C likely benign r.(?) p.(Gln2004His) g.100749588A>C - ARMCX4(NM_001256155.1):c.6012A>C (p.(Gln2004His)) - ARMCX4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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