Full data view for gene MAGEL2

Information The variants shown are described using the NM_019066.4 transcript reference sequence.

322 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.? r.(?) p.(Trp?*) Unknown - VUS g.? - ENST00000532292.1:c.1086G>A (Trp326*) - IGF1R_000000 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio102 PubMed: Zhu 2015 - F - United States - - - - - 1 Johan den Dunnen
?/. - c.38C>T r.(?) p.(Pro13Leu) Unknown - VUS g.23892852G>A - MAGEL2(NM_019066.4):c.38C>T (p.P13L) - MAGEL2_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.41C>A r.(?) p.(Pro14Gln) Unknown - VUS g.23892849G>T g.23647702G>T MAGEL2(NM_019066.4):c.41C>A (p.P14Q) - MAGEL2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60G>C r.(?) p.(Pro20=) Unknown - likely benign g.23892830C>G - MAGEL2(NM_019066.5):c.60G>C (p.P20=) - MAGEL2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Pro47Leu) Unknown - VUS g.23892750G>A g.23647603G>A MAGEL2(NM_019066.4):c.140C>T (p.P47L) - MAGEL2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Ala56=) Unknown - likely benign g.23892722G>A g.23647575G>A MAGEL2(NM_019066.4):c.168C>T (p.A56=) - MAGEL2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183T>C r.(?) p.(Pro61=) Unknown - likely benign g.23892707A>G g.23647560A>G MAGEL2(NM_019066.4):c.183T>C (p.P61=), MAGEL2(NM_019066.5):c.183T>C (p.P61=) - MAGEL2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183T>C r.(?) p.(Pro61=) Unknown - likely benign g.23892707A>G g.23647560A>G MAGEL2(NM_019066.4):c.183T>C (p.P61=), MAGEL2(NM_019066.5):c.183T>C (p.P61=) - MAGEL2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(Pro75=) Unknown - likely benign g.23892665C>T g.23647518C>T MAGEL2(NM_019066.4):c.225G>A (p.P75=), MAGEL2(NM_019066.5):c.225G>A (p.P75=) - MAGEL2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(Pro75=) Unknown - likely benign g.23892665C>T g.23647518C>T MAGEL2(NM_019066.4):c.225G>A (p.P75=), MAGEL2(NM_019066.5):c.225G>A (p.P75=) - MAGEL2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225G>A r.(?) p.(Pro75=) Unknown - likely benign g.23892665C>T - MAGEL2(NM_019066.4):c.225G>A (p.P75=), MAGEL2(NM_019066.5):c.225G>A (p.P75=) - MAGEL2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.234G>A r.(?) p.(Pro78=) Unknown - likely benign g.23892656C>T g.23647509C>T MAGEL2(NM_019066.4):c.234G>A (p.P78=) - MAGEL2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257G>C r.(?) p.(Gly86Ala) Unknown - VUS g.23892633C>G - MAGEL2(NM_019066.4):c.257G>C (p.G86A), MAGEL2(NM_019066.5):c.257G>C (p.G86A) - MAGEL2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257G>C r.(?) p.(Gly86Ala) Unknown - VUS g.23892633C>G - MAGEL2(NM_019066.4):c.257G>C (p.G86A), MAGEL2(NM_019066.5):c.257G>C (p.G86A) - MAGEL2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>A r.(?) p.(Pro91=) Unknown - likely benign g.23892617C>T g.23647470C>T MAGEL2(NM_019066.4):c.273G>A (p.P91=), MAGEL2(NM_019066.5):c.273G>A (p.P91=) - MAGEL2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>A r.(?) p.(Pro91=) Unknown - likely benign g.23892617C>T - MAGEL2(NM_019066.4):c.273G>A (p.P91=), MAGEL2(NM_019066.5):c.273G>A (p.P91=) - MAGEL2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311C>T r.(?) p.(Thr104Ile) Unknown - VUS g.23892579G>A - MAGEL2(NM_019066.5):c.311C>T (p.T104I) - MAGEL2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313C>G r.(?) p.(Pro105Ala) Unknown - likely benign g.23892577G>C g.23647430G>C MAGEL2(NM_019066.4):c.313C>G (p.P105A) - MAGEL2_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324G>A r.(?) p.(Leu108=) Unknown - likely benign g.23892566C>T - MAGEL2(NM_019066.4):c.324G>A (p.L108=) - MAGEL2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341C>T r.(?) p.(Pro114Leu) Unknown - VUS g.23892549G>A g.23647402G>A MAGEL2(NM_019066.4):c.341C>T (p.P114L, p.(Pro114Leu)) - MAGEL2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341C>T r.(?) p.(Pro114Leu) Unknown - VUS g.23892549G>A g.23647402G>A MAGEL2(NM_019066.4):c.341C>T (p.P114L, p.(Pro114Leu)) - MAGEL2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.385A>G r.(?) p.(Met129Val) Unknown - likely benign g.23892505T>C g.23647358T>C MAGEL2(NM_019066.4):c.385A>G (p.M129V), MAGEL2(NM_019066.5):c.385A>G (p.M129V) - MAGEL2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.385A>G r.(?) p.(Met129Val) Unknown - likely benign g.23892505T>C - MAGEL2(NM_019066.4):c.385A>G (p.M129V), MAGEL2(NM_019066.5):c.385A>G (p.M129V) - MAGEL2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>A r.(?) p.(Gly136Arg) Unknown - likely benign g.23892484C>T - MAGEL2(NM_019066.5):c.406G>A (p.G136R) - MAGEL2_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.434C>T r.(?) p.(Pro145Leu) Unknown - likely benign g.23892456G>A - MAGEL2(NM_019066.4):c.434C>T (p.P145L) - MAGEL2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435G>A r.(?) p.(Pro145=) Unknown - likely benign g.23892455C>T g.23647308C>T MAGEL2(NM_019066.4):c.435G>A (p.P145=) - MAGEL2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448T>A r.(?) p.(Ser150Thr) Unknown - likely benign g.23892442A>T g.23647295A>T MAGEL2(NM_019066.4):c.448T>A (p.S150T) - MAGEL2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448_477del r.(?) p.(Ser150_Met159del) Unknown - likely benign g.23892431_23892460del - MAGEL2(NM_019066.5):c.448_477delTCCCACCCTCCCCCTCCGGGGACCCCAATG (p.S150_M159del) - MAGEL2_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453C>T r.(?) p.(His151=) Unknown - likely benign g.23892437G>A g.23647290G>A MAGEL2(NM_019066.4):c.453C>T (p.H151=) - MAGEL2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459C>T r.(?) p.(Pro153=) Unknown - likely benign g.23892431G>A g.23647284G>A MAGEL2(NM_019066.4):c.459C>T (p.P153=) - MAGEL2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461C>A r.(?) p.(Pro154His) Unknown - likely benign g.23892429G>T g.23647282G>T MAGEL2(NM_019066.4):c.461C>A (p.P154H) - MAGEL2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465G>A r.(?) p.(Pro155=) Unknown - likely benign g.23892425C>T - MAGEL2(NM_019066.4):c.465G>A (p.P155=) - MAGEL2_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474A>G r.(?) p.(Pro158=) Unknown - likely benign g.23892416T>C g.23647269T>C MAGEL2(NM_019066.4):c.474A>G (p.P158=) - MAGEL2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474_503del r.(?) p.(Ala170_Met179del) Unknown - VUS g.23892401_23892430del g.23647254_23647283del MAGEL2(NM_019066.4):c.474_503del (p.(Ala160_Met169del)), MAGEL2(NM_019066.5):c.474_503delAATGGCCCATCCTCCTCCTCCGGGGACCCC (p.A170_M179del) - MAGEL2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.474_503del r.(?) p.(Ala170_Met179del) Unknown - likely benign g.23892401_23892430del - MAGEL2(NM_019066.4):c.474_503del (p.(Ala160_Met169del)), MAGEL2(NM_019066.5):c.474_503delAATGGCCCATCCTCCTCCTCCGGGGACCCC (p.A170_M179del) - MAGEL2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474_503del r.(?) p.(Ala170_Met179del) Unknown - VUS g.23892401_23892430del - MAGEL2(NM_019066.4):c.474_503del (p.(Ala160_Met169del)), MAGEL2(NM_019066.5):c.474_503delAATGGCCCATCCTCCTCCTCCGGGGACCCC (p.A170_M179del) - MAGEL2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475A>G r.(?) p.(Met159Val) Unknown - VUS g.23892415T>C g.23647268T>C MAGEL2(NM_019066.4):c.475A>G (p.M159V) - MAGEL2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T r.(?) p.(Pro165Leu) Unknown - likely benign g.23892396G>A g.23647249G>A MAGEL2(NM_019066.4):c.494C>T (p.P165L), MAGEL2(NM_019066.5):c.494C>T (p.P165L) - MAGEL2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T r.(?) p.(Pro165Leu) Unknown - likely benign g.23892396G>A - MAGEL2(NM_019066.4):c.494C>T (p.P165L), MAGEL2(NM_019066.5):c.494C>T (p.P165L) - MAGEL2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.504G>A r.(?) p.(Pro168=) Unknown - likely benign g.23892386C>T g.23647239C>T MAGEL2(NM_019066.4):c.504G>A (p.P168=) - MAGEL2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509C>T r.(?) p.(Ala170Val) Unknown - VUS g.23892381G>A g.23647234G>A MAGEL2(NM_019066.4):c.509C>T (p.(Ala170Val)) - MAGEL2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509_538del r.(?) p.(Ala170_Met179del) Unknown - likely benign g.23892386_23892415del g.23647239_23647268del MAGEL2(NM_019066.4):c.509_538del (p.(Ala170_Met179del)), MAGEL2(NM_019066.5):c.509_538delCCCATCCTCCTCCTCCGGGGACCCCGATGG (p.A170_M179del) - MAGEL2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509_538del r.(?) p.(Ala170_Met179del) Unknown - likely benign g.23892386_23892415del - MAGEL2(NM_019066.4):c.509_538del (p.(Ala170_Met179del)), MAGEL2(NM_019066.5):c.509_538delCCCATCCTCCTCCTCCGGGGACCCCGATGG (p.A170_M179del) - MAGEL2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509_538del r.(?) p.(Ala170_Met179del) Unknown - likely benign g.23892386_23892415del - MAGEL2(NM_019066.4):c.509_538del (p.(Ala170_Met179del)), MAGEL2(NM_019066.5):c.509_538delCCCATCCTCCTCCTCCGGGGACCCCGATGG (p.A170_M179del) - MAGEL2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>G r.(?) p.(Ala170=) Unknown - likely benign g.23892380G>C g.23647233G>C MAGEL2(NM_019066.4):c.510C>G (p.A170=) - MAGEL2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.539_568del r.(?) p.(Val180_Met189del) Unknown - likely benign g.23892350_23892379del - MAGEL2(NM_019066.5):c.539_568delTGCATCCTCCTCCTCCGGGGACCCCGATGG (p.V180_M189del) - MAGEL2_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547C>T r.(?) p.(Pro183Ser) Unknown - VUS g.23892343G>A - MAGEL2(NM_019066.4):c.547C>T (p.P183S) - MAGEL2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549T>C r.(?) p.(Pro183=) Unknown - likely benign g.23892341A>G - MAGEL2(NM_019066.4):c.549T>C (p.P183=), MAGEL2(NM_019066.5):c.549T>C (p.P183=) - MAGEL2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549T>C r.(?) p.(Pro183=) Unknown - likely benign g.23892341A>G - MAGEL2(NM_019066.4):c.549T>C (p.P183=), MAGEL2(NM_019066.5):c.549T>C (p.P183=) - MAGEL2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.558del r.(?) p.(Thr187ProfsTer52) Unknown - likely pathogenic g.23892335del g.23647188del MAGEL2(NM_019066.4):c.558delG (p.(Thr187ProfsTer52)) - MAGEL2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.579C>T r.(?) p.(Pro193=) Unknown - likely benign g.23892311G>A - MAGEL2(NM_019066.4):c.579C>T (p.P193=) - MAGEL2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.593C>T r.(?) p.(Pro198Leu) Unknown - likely benign g.23892297G>A - MAGEL2(NM_019066.5):c.593C>T (p.P198L) - MAGEL2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.609_638del r.(?) p.(His221_Ala230del) Unknown - VUS g.23892299_23892328del g.23647152_23647181del MAGEL2(NM_019066.4):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del), MAGEL2(NM_019066.5):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p...) - MAGEL2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609_638del r.(?) p.(His221_Ala230del) Unknown - likely benign g.23892299_23892328del - MAGEL2(NM_019066.4):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del), MAGEL2(NM_019066.5):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p...) - MAGEL2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609_638del r.(?) p.(His221_Ala230del) Unknown - likely benign g.23892299_23892328del - MAGEL2(NM_019066.4):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del), MAGEL2(NM_019066.5):c.609_638delCCCTCCGGGGACACCGATGGCTCATCCTCC (p...) - MAGEL2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.630_689del r.(?) p.(His211_Ala230del) Unknown - likely benign g.23892212_23892271del g.23647065_23647124del MAGEL2(NM_019066.5):c.630_689del (p.H211_A230del) - MAGEL2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639A>C r.(?) p.(Pro213=) Unknown - likely benign g.23892251T>G g.23647104T>G MAGEL2(NM_019066.4):c.639A>C (p.P213=), MAGEL2(NM_019066.5):c.639A>C (p.P213=) - MAGEL2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639A>C r.(?) p.(Pro213=) Unknown - likely benign g.23892251T>G g.23647104T>G MAGEL2(NM_019066.4):c.639A>C (p.P213=), MAGEL2(NM_019066.5):c.639A>C (p.P213=) - MAGEL2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639_668del r.(?) p.(His221_Ala230del) Unknown - likely benign g.23892251_23892280del - MAGEL2(NM_019066.4):c.639_668delACCTCCGGGGACACCGATGGCTCATCCTCC (p.H221_A230del) - MAGEL2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.652C>T r.(?) p.(Pro218Ser) Unknown - likely benign g.23892238G>A - MAGEL2(NM_019066.5):c.652C>T (p.P218S) - MAGEL2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653C>T r.(?) p.(Pro218Leu) Unknown - likely benign g.23892237G>A - MAGEL2(NM_019066.5):c.653C>T (p.P218L) - MAGEL2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.660_689del r.(?) p.(His221_Ala230del) Unknown - VUS g.23892212_23892241del g.23647065_23647094del MAGEL2(NM_019066.4):c.660_689del (p.(His221_Ala230del)) - MAGEL2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.678T>G r.(?) p.(Gly226=) Unknown - benign g.23892212A>C g.23647065A>C MAGEL2(NM_019066.4):c.678T>G (p.G226=) - MAGEL2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680C>T r.(?) p.(Thr227Ile) Unknown - VUS g.23892210G>A g.23647063G>A MAGEL2(NM_019066.4):c.680C>T (p.T227I, p.(Thr227Ile)) - MAGEL2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680C>T r.(?) p.(Thr227Ile) Unknown - VUS g.23892210G>A g.23647063G>A MAGEL2(NM_019066.4):c.680C>T (p.T227I, p.(Thr227Ile)) - MAGEL2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687G>A r.(?) p.(Met229Ile) Unknown - likely benign g.23892203C>T g.23647056C>T MAGEL2(NM_019066.4):c.687G>A (p.(Met229Ile)) - MAGEL2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.694C>T r.(?) p.(Pro232Ser) Unknown - VUS g.23892196G>A - MAGEL2(NM_019066.4):c.694C>T (p.P232S) - MAGEL2_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.764C>T r.(?) p.(Pro255Leu) Unknown - likely benign g.23892126G>A g.23646979G>A MAGEL2(NM_019066.4):c.764C>T (p.P255L) - MAGEL2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774G>A r.(?) p.(Pro258=) Unknown - likely benign g.23892116C>T - MAGEL2(NM_019066.4):c.774G>A (p.P258=) - MAGEL2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.780C>T r.(?) p.(Val260=) Unknown - likely benign g.23892110G>A - MAGEL2(NM_019066.5):c.780C>T (p.V260=) - MAGEL2_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.784C>A r.(?) p.(Pro262Thr) Unknown - VUS g.23892106G>T - MAGEL2(NM_019066.4):c.784C>A (p.P262T) - MAGEL2_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.785_794del r.(?) p.(Pro262Glnfs*3) Unknown - likely pathogenic g.23892102_23892111del - MAGEL2(NM_019066.5):c.785_794delCGCCTCCAGC (p.P262Qfs*3) - MAGEL2_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.807C>A r.(?) p.(Thr269=) Unknown - benign g.23892083G>T - MAGEL2(NM_019066.4):c.807C>A (p.T269=), MAGEL2(NM_019066.5):c.807C>A (p.T269=) - MAGEL2_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807C>A r.(?) p.(Thr269=) Unknown - likely benign g.23892083G>T - MAGEL2(NM_019066.4):c.807C>A (p.T269=), MAGEL2(NM_019066.5):c.807C>A (p.T269=) - MAGEL2_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.812C>G r.(?) p.(Pro271Arg) Unknown - likely benign g.23892078G>C g.23646931G>C MAGEL2(NM_019066.4):c.812C>G (p.P271R) - MAGEL2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.846A>G r.(?) p.(Pro282=) Unknown - likely benign g.23892044T>C - MAGEL2(NM_019066.4):c.846A>G (p.P282=) - MAGEL2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.853G>A r.(?) p.(Gly285Arg) Unknown - benign g.23892037C>T g.23646890C>T MAGEL2(NM_019066.4):c.853G>A (p.G285R, p.(Gly285Arg)) - MAGEL2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.853G>A r.(?) p.(Gly285Arg) Unknown - likely benign g.23892037C>T g.23646890C>T MAGEL2(NM_019066.4):c.853G>A (p.G285R, p.(Gly285Arg)) - MAGEL2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.901C>T r.(?) p.(Pro301Ser) Unknown - likely benign g.23891989G>A g.23646842G>A MAGEL2(NM_019066.4):c.901C>T (p.(Pro301Ser)), MAGEL2(NM_019066.5):c.901C>T (p.P301S) - MAGEL2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901C>T r.(?) p.(Pro301Ser) Unknown - VUS g.23891989G>A g.23646842G>A MAGEL2(NM_019066.4):c.901C>T (p.(Pro301Ser)), MAGEL2(NM_019066.5):c.901C>T (p.P301S) - MAGEL2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919C>T r.(?) p.(Pro307Ser) Unknown - likely benign g.23891971G>A g.23646824G>A MAGEL2(NM_019066.4):c.919C>T (p.P307S), MAGEL2(NM_019066.5):c.919C>T (p.P307S) - MAGEL2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919C>T r.(?) p.(Pro307Ser) Unknown - likely benign g.23891971G>A g.23646824G>A MAGEL2(NM_019066.4):c.919C>T (p.P307S), MAGEL2(NM_019066.5):c.919C>T (p.P307S) - MAGEL2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919C>T r.(?) p.(Pro307Ser) Unknown - likely benign g.23891971G>A - MAGEL2(NM_019066.4):c.919C>T (p.P307S), MAGEL2(NM_019066.5):c.919C>T (p.P307S) - MAGEL2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949C>G r.(?) p.(Gln317Glu) Unknown - VUS g.23891941G>C - MAGEL2(NM_019066.5):c.949C>G (p.Q317E) - MAGEL2_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960_980del r.(?) p.(Pro321_Ala327del) Unknown - likely benign g.23891934_23891954del g.23646787_23646807del MAGEL2(NM_019066.4):c.960_980del (p.(Pro321_Ala327del)), MAGEL2(NM_019066.4):c.960_980delCCCACCTGCACAGCCGATGGC (p.P321_A327del), MAGEL2(NM_019066....) - MAGEL2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960_980del r.(?) p.(Pro321_Ala327del) Unknown - likely benign g.23891934_23891954del g.23646787_23646807del MAGEL2(NM_019066.4):c.960_980del (p.(Pro321_Ala327del)), MAGEL2(NM_019066.4):c.960_980delCCCACCTGCACAGCCGATGGC (p.P321_A327del), MAGEL2(NM_019066....) - MAGEL2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.960_980del r.(?) p.(Pro321_Ala327del) Unknown - benign g.23891934_23891954del g.23646787_23646807del MAGEL2(NM_019066.4):c.960_980del (p.(Pro321_Ala327del)), MAGEL2(NM_019066.4):c.960_980delCCCACCTGCACAGCCGATGGC (p.P321_A327del), MAGEL2(NM_019066....) - MAGEL2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1003C>A r.(?) p.(Pro335Thr) Unknown - VUS g.23891887G>T - - - MAGEL2_000242 - - - rs1054820321 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1021C>T r.(?) p.(Gln341Ter) Unknown - pathogenic g.23891869G>A g.23646722G>A MAGEL2(NM_019066.5):c.1021C>T (p.Q341*) - MAGEL2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1021C>T r.(?) p.(Gln341Ter) Unknown - likely pathogenic g.23891869G>A - MAGEL2(NM_019066.5):c.1021C>T (p.Q341*) - MAGEL2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1022A>T r.(?) p.(Gln341Leu) Unknown - VUS g.23891868T>A g.23646721T>A MAGEL2(NM_019066.4):c.1022A>T (p.Q341L) - MAGEL2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1025C>A r.(?) p.(Ser342Tyr) Unknown - VUS g.23891865G>T - MAGEL2(NM_019066.4):c.1025C>A (p.S342Y) - MAGEL2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037G>T r.(?) p.(Arg346Met) Unknown - VUS g.23891853C>A g.23646706C>A MAGEL2(NM_019066.4):c.1037G>T (p.R346M) - MAGEL2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1038G>C r.(?) p.(Arg346Ser) Unknown - benign g.23891852C>G g.23646705C>G MAGEL2(NM_019066.4):c.1038G>C (p.(Arg346Ser)), MAGEL2(NM_019066.5):c.1038G>C (p.R346S) - MAGEL2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038G>C r.(?) p.(Arg346Ser) Unknown - likely benign g.23891852C>G g.23646705C>G MAGEL2(NM_019066.4):c.1038G>C (p.(Arg346Ser)), MAGEL2(NM_019066.5):c.1038G>C (p.R346S) - MAGEL2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1044T>C r.(?) p.(Pro348=) Unknown - likely benign g.23891846A>G g.23646699A>G MAGEL2(NM_019066.4):c.1044T>C (p.P348=) - MAGEL2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1072C>A r.(?) p.(Pro358Thr) Unknown - VUS g.23891818G>T g.23646671G>T MAGEL2(NM_019066.4):c.1072C>A (p.P358T) - MAGEL2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1079C>T r.(?) p.(Ala360Val) Unknown - benign g.23891811G>A g.23646664G>A MAGEL2(NM_019066.4):c.1079C>T (p.(Ala360Val)), MAGEL2(NM_019066.5):c.1079C>T (p.A360V) - MAGEL2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1079C>T r.(?) p.(Ala360Val) Unknown - likely benign g.23891811G>A g.23646664G>A MAGEL2(NM_019066.4):c.1079C>T (p.(Ala360Val)), MAGEL2(NM_019066.5):c.1079C>T (p.A360V) - MAGEL2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1175C>T r.(?) p.(Thr392Met) Unknown - VUS g.23891715G>A g.23646568G>A MAGEL2(NM_019066.4):c.1175C>T (p.T392M) - MAGEL2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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