Unique variants in gene LAMC2

Information The variants shown are described using the NM_005562.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.196G>A r.(?) p.(Glu66Lys) - VUS g.183177132G>A - LAMC2(NM_005562.2):c.196G>A (p.E66K) - LAMC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.283C>T r.(?) p.(Arg95Ter) - pathogenic g.183184602C>T g.183215467C>T LAMC2(NM_005562.2):c.283C>T (p.R95*) - LAMC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.297C>T r.(?) p.(Ser99=) - benign g.183184616C>T g.183215481C>T LAMC2(NM_005562.2):c.297C>T (p.S99=) - LAMC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., -/. 2 - c.344G>A r.(?) p.(Arg115Gln) - likely benign, benign g.183184663G>A g.183215528G>A LAMC2(NM_005562.2):c.344G>A (p.R115Q) - LAMC2_000003 48 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs17481405 Germline, CLASSIFICATION record - 48/2795 individuals - - - Mohammed Faruq, VKGL-NL_Groningen
-/. 1 - c.483C>T r.(?) p.(Val161=) - benign g.183187603C>T g.183218468C>T LAMC2(NM_005562.2):c.483C>T (p.V161=) - LAMC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.493C>T r.(?) p.(Arg165Cys) - VUS g.183187613C>T g.183218478C>T LAMC2(NM_005562.2):c.493C>T (p.R165C) - LAMC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.508C>T r.(?) p.(Arg170Ter) - pathogenic g.183189964C>T - LAMC2(NM_005562.2):c.508C>T (p.R170*) - LAMC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.798T>G r.(?) p.(Gly266=) - benign g.183192304T>G g.183223169T>G LAMC2(NM_005562.2):c.798T>G (p.G266=) - LAMC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1067-1G>A r.spl? p.? - pathogenic g.183195832G>A - LAMC2(NM_005562.2):c.1067-1G>A - LAMC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1510C>A r.(?) p.(Pro504Thr) - VUS g.183197550C>A g.183228415C>A LAMC2(NM_005562.2):c.1510C>A (p.P504T) - LAMC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1899G>C r.(?) p.(Leu633=) - likely benign g.183201363G>C g.183232228G>C LAMC2(NM_005562.2):c.1899G>C (p.L633=) - LAMC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.2198G>C r.(?) p.(Ser733Thr) - benign g.183201970G>C g.183232835G>C LAMC2(NM_005562.2):c.2198G>C (p.S733T) - LAMC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2422C>G r.(?) p.(Pro808Ala) - likely benign g.183204831C>G g.183235696C>G LAMC2(NM_005562.2):c.2422C>G (p.P808A) - LAMC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2570G>C r.(?) p.(Arg857Pro) - likely benign g.183205708G>C g.183236573G>C LAMC2(NM_005562.2):c.2570G>C (p.R857P) - LAMC2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2688G>A r.(?) p.(Gln896=) - benign g.183206573G>A g.183237438G>A LAMC2(NM_005562.2):c.2688G>A (p.Q896=) - LAMC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.2881C>T r.(?) p.(Gln961Ter) - pathogenic g.183208510C>T g.183239375C>T LAMC2(NM_005562.2):c.2881C>T (p.Q961*) - LAMC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3206C>T r.(?) p.(Thr1069Met) - likely benign g.183209311C>T g.183240176C>T LAMC2(NM_005562.2):c.3206C>T (p.T1069M) - LAMC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.3448C>T r.(?) p.(Arg1150Cys) - VUS g.183212401C>T g.183243266C>T LAMC2(NM_005562.2):c.3448C>T (p.R1150C) - LAMC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.3459G>A r.(?) p.(Arg1153=) - likely benign g.183212412G>A g.183243277G>A LAMC2(NM_005562.2):c.3459G>A (p.R1153=) - LAMC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.*13T>G r.(=) p.(=) - benign g.183212548T>G g.183243413T>G LAMC2(NM_005562.2):c.*13T>G - LAMC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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