Unique variants in the METRN gene

Information The variants shown are described using the NM_024042.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.*3989del r.(?) p.(=) - VUS g.771376del - FAM173A(NM_023933.3):c.102delC (p.Y35Tfs*72) - CCDC78_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4054G>A r.(=) p.(=) - likely benign g.771441G>A g.721441G>A FAM173A(NM_001271285.1):c.162+5G>A (p.?) - CCDC78_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*5393G>C r.(=) p.(=) - VUS g.772780G>C - CCDC78(NM_001031737.2):c.1307C>G (p.T436R) - CCDC78_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*5405G>A r.(=) p.(=) - VUS g.772792G>A - CCDC78(NM_001031737.2):c.1298-3C>T - CCDC78_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*5410G>T r.(=) p.(=) - likely benign g.772797G>T - CCDC78(NM_001378030.1):c.1302-8C>A - CCDC78_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5598C>T r.(=) p.(=) - likely benign g.772985C>T - CCDC78(NM_001378030.1):c.1238G>A (p.(Arg413Gln)) - CCDC78_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5643G>A r.(=) p.(=) - likely benign g.773030G>A - CCDC78(NM_001378030.1):c.1201-8C>T - CCDC78_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*5724A>G r.(=) p.(=) - VUS g.773111A>G - CCDC78(NM_001378030.1):c.1184T>C (p.(Phe395Ser)) - CCDC78_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*5776T>C r.(=) p.(=) - VUS g.773163T>C - CCDC78(NM_001031737.2):c.1134-2A>G (p.?), CCDC78(NM_001378030.1):c.1134-2A>G - CCDC78_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 - c.*5912del r.(?) p.(=) - benign g.773299del g.723299del CCDC78(NM_001031737.3):c.1134-131delG - CCDC78_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*5934dup r.(?) p.(=) - benign g.773321dup g.723321dup CCDC78(NM_001031737.3):c.1134-153dupG - CCDC78_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*5954G>A r.(=) p.(=) - benign g.773341G>A g.723341G>A CCDC78(NM_001031737.3):c.1134-180C>T - CCDC78_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*5980G>T r.(=) p.(=) - benign g.773367G>T g.723367G>T CCDC78(NM_001031737.3):c.1134-206C>A - CCDC78_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*6806G>T r.(=) p.(=) - likely benign g.774193G>T g.724193G>T CCDC78(NM_001031737.2):c.966C>A (p.(Asn322Lys)) - CCDC78_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*6925C>T r.(=) p.(=) - likely benign g.774312C>T - CCDC78(NM_001378030.1):c.953+10G>A - CCDC78_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*7044G>A r.(=) p.(=) - likely benign g.774431G>A g.724431G>A CCDC78(NM_001031737.2):c.844C>T (p.(Arg282Trp)) - CCDC78_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*7076C>T r.(=) p.(=) - likely benign g.774463C>T - CCDC78(NM_001031737.2):c.812G>A (p.(Arg271Gln)) - CCDC78_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*7077G>A r.(=) p.(=) - VUS g.774464G>A - CCDC78(NM_001031737.2):c.811C>T (p.R271W) - CCDC78_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*7133C>T r.(=) p.(=) - benign g.774520C>T g.724520C>T CCDC78(NM_001031737.3):c.766-11G>A - CCDC78_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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