Unique variants in the GLMN gene


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_053274.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-188G>C r.(?) p.(=) - likely benign g.92764639C>G g.92299082C>G RPAP2(NM_024813.2):c.9C>G (p.(Asp3Glu)) - GLMN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.40-7_40-6del r.(=) p.(=) - benign g.92763104_92763105del g.92297547_92297548del GLMN(NM_053274.2):c.40-7_40-6delTT - GLMN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.40-6del r.(=) p.(=) - benign, likely benign g.92763105del g.92297548del GLMN(NM_053274.2):c.40-6del (p.(=)), GLMN(NM_053274.2):c.40-6delT - GLMN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/., -?/. 2 - c.40-6dup r.(=) p.(=) - benign, likely benign g.92763105dup g.92297548dup GLMN(NM_053274.2):c.40-6dup (p.(=)), GLMN(NM_053274.2):c.40-6dupT - GLMN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.40-5G>T r.spl? p.? - likely benign g.92763091C>A g.92297534C>A GLMN(NM_053274.2):c.40-5delinsT (p.?) - GLMN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.108C>A r.(?) p.(Cys36*) - pathogenic g.92763018G>T - GLMN(NM_053274.2):c.108C>A (p.C36*) - GLMN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.144T>G r.(?) p.(Ile48Met) - likely benign g.92762982A>C g.92297425A>C GLMN(NM_053274.2):c.144T>G (p.I48M, p.(Ile48Met)) - GLMN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+, +/. 2 3 c.157_161del r.(?) p.(Lys53)*, p.(Lys53Ter) - pathogenic g.92762968_92762972del g.92297411_92297415del 157delAAGAA, GLMN(NM_053274.2):c.157_161delAAGAA (p.K53*) - GLMN_000001 VKGL data sharing initiative Nederland PubMed: Brouillard 2005 - - CLASSIFICATION record, Germline yes - - - - Pascal Brouillard, VKGL-NL_AMC
-/., -?/. 2 - c.271G>A r.(?) p.(Asp91Asn) - benign, likely benign g.92756989C>T g.92291432C>T GLMN(NM_053274.2):c.271G>A (p.D91N, p.(Asp91Asn)) - GLMN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/. 1 - c.423T>A r.(?) p.(Tyr141*) - pathogenic g.92754680A>T - GLMN(NM_053274.2):c.423T>A (p.Y141*) - GLMN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.436G>A r.(?) p.(Ala146Thr) - likely benign g.92754667C>T g.92289110C>T GLMN(NM_053274.2):c.436G>A (p.A146T, p.(Ala146Thr)) - GLMN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/. 1 - c.519T>C r.(?) p.(Leu173=) - benign g.92754584A>G g.92289027A>G GLMN(NM_053274.2):c.519T>C (p.L173=) - GLMN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., ?/. 2 8 c.761C>G r.(761c>g), r.(?) p.(Pro254Arg) - likely pathogenic, VUS g.92737184G>C g.92271627G>C - - GLMN_000003 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145762716 Germline - 5/2793 individuals - - - Jie Yin, Mohammed Faruq
-?/. 1 - c.899T>C r.(?) p.(Ile300Thr) - likely benign g.92737046A>G g.92271489A>G GLMN(NM_053274.2):c.899T>C (p.I300T) - GLMN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.920T>G r.(?) p.(Leu307Ter) - pathogenic g.92737025A>C g.92271468A>C GLMN(NM_053274.2):c.920T>G (p.L307*) - GLMN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.977+7T>A r.(=) p.(=) - likely benign g.92735273A>T g.92269716A>T GLMN(NM_053274.2):c.977+7T>A (, p.(=)) - GLMN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
-/. 1 - c.1057T>C r.(?) p.(Tyr353His) - benign g.92733511A>G g.92267954A>G GLMN(NM_053274.2):c.1057T>C (p.Y353H) - GLMN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1241C>G r.(?) p.(Ser414Ter) - pathogenic g.92730169G>C g.92264612G>C GLMN(NM_053274.2):c.1241C>G (p.S414*) - GLMN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1242del r.(?) p.(Gly415ValfsTer18) - pathogenic g.92730168del g.92264611del GLMN(NM_053274.2):c.1242delA (p.G415Vfs*18) - GLMN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.1470_1473del r.(?) p.(Asn490LysfsTer16) - pathogenic g.92728423_92728426del g.92262866_92262869del GLMN(NM_053274.2):c.1470_1473delTCAA (p.N490Kfs*16) - GLMN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1474-15_1474-12del r.(=) p.(=) - likely benign g.92713561_92713564del g.92248004_92248007del GLMN(NM_053274.2):c.1474-15_1474-12delTTTC - C1orf146_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 18 c.1630G>T r.(?) p.(Glu544*) - pathogenic g.92712657C>A g.92247100C>A - - GLMN_000002 - - - - Germline - - - - - Jie Yin
-/. 2 - c.1668+19_1668+20del r.(=) p.(=) - benign g.92712601_92712602del g.92247044_92247045del GLMN(NM_053274.2):c.1668+19_1668+20delTT - GLMN_000005, GLMN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.*115G>C r.(=) p.(=) - benign g.92711972C>G g.92246415C>G GLMN(NM_053274.2):c.*115G>C - GLMN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*864G>T r.(=) p.(=) - VUS g.92711223C>A g.92245666C>A C1orf146(NM_001012425.1):c.535C>A (p.(Pro179Thr)) - C1orf146_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*865G>T r.(=) p.(=) - VUS g.92711222C>A g.92245665C>A C1orf146(NM_001012425.1):c.534C>A (p.(Asn178Lys)) - C1orf146_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*2213del r.(?) p.(=) - VUS g.92709879del g.92244322del C1orf146(NM_001012425.1):c.261delT (p.(Leu89TrpfsTer15)) - C1orf146_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2263C>G r.(=) p.(=) - likely benign g.92709824G>C g.92244267G>C C1orf146(NM_001012425.1):c.211G>C (p.(Glu71Gln)) - C1orf146_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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