All variants in the BGN gene

Information The variants shown are described using the NM_001711.4 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

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     
-?/. - c.-50336C>T r.(?) p.(=) - likely benign g.152710247C>T g.153444789C>T TREX2(NM_080701.3):c.642G>A (p.E214=) - TREX2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-50318C>T r.(?) p.(=) - likely benign g.152710265C>T g.153444807C>T TREX2(NM_080701.3):c.624G>A (p.L208=) - TREX2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.-50287A>T r.(?) p.(=) - VUS g.152710296A>T g.153444838A>T TREX2(NM_080701.3):c.593T>A (p.L198H) - TREX2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-50235G>A r.(?) p.(=) - likely benign g.152710348G>A g.153444890G>A TREX2(NM_080701.3):c.541C>T (p.(Arg181Trp)) - TREX2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-50222G>A r.(?) p.(=) - likely benign g.152710361G>A - TREX2(NM_080701.3):c.528C>T (p.F176=) - BGN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-50175C>T r.(?) p.(=) - likely benign g.152710408C>T g.153444950C>T TREX2(NM_080701.3):c.481G>A (p.(Gly161Ser), p.G161S) - TREX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.-50175C>T r.(?) p.(=) - VUS g.152710408C>T g.153444950C>T TREX2(NM_080701.3):c.481G>A (p.(Gly161Ser), p.G161S) - TREX2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.-50161C>A r.(?) p.(=) - benign g.152710422C>A g.153444964C>A TREX2(NM_080701.3):c.467G>T (p.(Arg156Leu), p.R156L) - TREX2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.-50161C>A r.(?) p.(=) - VUS g.152710422C>A g.153444964C>A TREX2(NM_080701.3):c.467G>T (p.(Arg156Leu), p.R156L) - TREX2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-50139G>A r.(?) p.(=) - likely benign g.152710444G>A g.153444986G>A TREX2(NM_080701.3):c.445C>T (p.P149S) - TREX2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-50103G>A r.(?) p.(=) - VUS g.152710480G>A g.153445022G>A TREX2(NM_080701.3):c.409C>T (p.(Arg137Cys)) - TREX2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-50088G>A r.(?) p.(=) - VUS g.152710495G>A g.153445037G>A TREX2(NM_080701.3):c.394C>T (p.(Arg132Trp)) - TREX2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-50041G>T r.(?) p.(=) - VUS g.152710542G>T g.153445084G>T TREX2(NM_080701.3):c.347C>A (p.A116D) - TREX2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.-49953G>A r.(?) p.(=) - VUS g.152710630G>A g.153445172G>A TREX2(NM_080701.3):c.259C>T (p.(Arg87Ter)) - TREX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.-49925G>A r.(?) p.(=) - benign g.152710658G>A g.153445200G>A TREX2(NM_080701.3):c.231C>T (p.I77=) - TREX2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-49870T>C r.(?) p.(=) - likely benign g.152710713T>C g.153445255T>C TREX2(NM_080701.3):c.176A>G (p.(Lys59Arg)) - BGN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-49833C>T r.(?) p.(=) - likely benign g.152710750C>T - TREX2(NM_080701.3):c.139G>A (p.E47K) - BGN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-49804C>G r.(?) p.(=) - likely benign g.152710779C>G g.153445321C>G TREX2(NM_080701.3):c.110G>C (p.R37P) - BGN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.-49777_*836003dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.-49738A>T r.(?) p.(=) - likely benign g.152710845A>T g.153445387A>T TREX2(NM_080701.3):c.44T>A (p.L15Q) - TREX2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-49716C>T r.(?) p.(=) - likely benign g.152710867C>T g.153445409C>T TREX2(NM_080701.3):c.22G>A (p.(Glu8Lys)) - BGN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-49613G>A r.(?) p.(=) - likely benign g.152710970G>A g.153445512G>A TREX2(NM_080701.3):c.-65-17C>T - TREX2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.-47209A>G r.(?) p.(=) - likely benign g.152713374A>G g.153447916A>G HAUS7(NM_017518.7):c.1076-7T>C (p.(=)) - BGN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-40654G>A r.(?) p.(=) - VUS g.152719929G>A g.153454471G>A HAUS7(NM_017518.7):c.998C>T (p.(Ala333Val)) - HAUS7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-40592_-40577del r.(?) p.(=) - likely benign g.152719991_152720006del g.153454533_153454548del HAUS7(NM_017518.7):c.961-19_961-4del (p.?) - BGN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-40588_-40577del r.(?) p.(=) - VUS g.152719995_152720006del g.153454537_153454548del HAUS7(NM_017518.7):c.961-15_961-4del (p.?) - HAUS7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-39531G>A r.(?) p.(=) - likely benign g.152721052G>A g.153455594G>A HAUS7(NM_017518.7):c.908C>T (p.(Pro303Leu)) - HAUS7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-39509G>A r.(?) p.(=) - VUS g.152721074G>A g.153455616G>A HAUS7(NM_017518.7):c.886C>T (p.(Arg296Cys)) - HAUS7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-38847G>A r.(?) p.(=) - likely benign g.152721736G>A g.153456278G>A HAUS7(NM_017518.7):c.722C>T (p.A241V) - BGN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-38839C>T r.(?) p.(=) - likely benign g.152721744C>T - HAUS7(NM_017518.7):c.714G>A (p.K238=) - BGN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-38772G>C r.(?) p.(=) - likely benign g.152721811G>C g.153456353G>C HAUS7(NM_017518.7):c.647C>G (p.(Ser216Cys)) - BGN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-38563T>G r.(?) p.(=) - likely benign g.152722020T>G g.153456562T>G HAUS7(NM_017518.7):c.566A>C (p.N189T) - BGN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-38542G>T r.(?) p.(=) - VUS g.152722041G>T - HAUS7(NM_017518.7):c.545C>A (p.P182H) - BGN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-37951T>C r.(?) p.(=) - likely benign g.152722632T>C g.153457174T>C HAUS7(NM_017518.7):c.439A>G (p.I147V) - BGN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-32472T>C r.(?) p.(=) - likely benign g.152728111T>C g.153462653T>C HAUS7(NM_017518.7):c.341A>G (p.H114R) - BGN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-12743C>T r.(?) p.(=) - likely benign g.152747840C>T g.153482382C>T LOC100509091(XM_003960028.1):c.938C>T (p.(Pro313Leu)) - BGN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-12+300G>A r.(=) p.(=) - VUS g.152760871G>A g.153495413G>A - - BGN_000001 - - - - Germline - - - - - Yu Sun
?/. - c.-12+300G>A r.(=) p.(=) - VUS g.152760871G>A g.153495413G>A - - BGN_000001 - - - - Germline - - - - - Yu Sun
?/. - c.-11-209G>A r.(=) p.(=) - VUS g.152769870G>A g.153504412G>A - - BGN_000002 - - - - Germline - - - - - Yu Sun
?/. - c.-11-209G>A r.(=) p.(=) - VUS g.152769870G>A g.153504412G>A - - BGN_000002 - - - - Germline - - - - - Yu Sun
?/. - c.22G>A r.(?) p.(Val8Met) - VUS g.152770111G>A g.153504653G>A BGN(NM_001711.4):c.22G>A (p.(Val8Met)), BGN(NM_001711.5):c.22G>A (p.V8M) - BGN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.22G>A r.(?) p.(Val8Met) - likely benign g.152770111G>A g.153504653G>A BGN(NM_001711.4):c.22G>A (p.(Val8Met)), BGN(NM_001711.5):c.22G>A (p.V8M) - BGN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.111C>T r.(?) p.(Asn37=) - likely benign g.152770200C>T g.153504742C>T BGN(NM_001711.5):c.111C>T (p.N37=), BGN(NM_001711.6):c.111C>T (p.N37=) - BGN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.111C>T r.(?) p.(Asn37=) - likely benign g.152770200C>T g.153504742C>T BGN(NM_001711.5):c.111C>T (p.N37=), BGN(NM_001711.6):c.111C>T (p.N37=) - BGN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.111C>T r.(?) p.(Asn37=) - benign g.152770200C>T g.153504742C>T BGN(NM_001711.5):c.111C>T (p.N37=), BGN(NM_001711.6):c.111C>T (p.N37=) - BGN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.120A>G r.(?) p.(Glu40=) - benign g.152770209A>G g.153504751A>G BGN(NM_001711.5):c.120A>G (p.E40=) - BGN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.141G>A r.(?) p.(Ser47=) - benign g.152770230G>A g.153504772G>A BGN(NM_001711.5):c.141G>A (p.S47=) - BGN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.141G>A r.(=) p.(=) - likely benign g.152770230G>A g.153504772G>A S47S - BGN_000030 recurrent, found 89 times PubMed: Tarpey 2009 - - Germline - 89/208 cases - 0 - Lucy Raymond
-?/. - c.144C>A r.(?) p.(Gly48=) - likely benign g.152770233C>A g.153504775C>A BGN(NM_001711.5):c.144C>A (p.G48=) - BGN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.238+51G>A r.(=) p.(=) - VUS g.152770378G>A g.153504920G>A - - BGN_000003 - - - - Germline - - - - - Yu Sun
?/. - c.238+51G>A r.(=) p.(=) - VUS g.152770378G>A g.153504920G>A - - BGN_000003 - - - - Germline - - - - - Yu Sun
?/. - c.238+75A>G r.(=) p.(=) - VUS g.152770402A>G g.153504944A>G - - BGN_000004 - - - - Germline - - - - - Yu Sun
?/. - c.238+75A>G r.(=) p.(=) - VUS g.152770402A>G g.153504944A>G - - BGN_000004 - - - - Germline - - - - - Yu Sun
?/. - c.239-35_242del r.spl? p.? - VUS g.152770661_152770699del - BGN(NM_001711.5):c.239-39_239-1del - BGN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.257A>G r.(?) p.(Lys86Arg) - benign g.152770714A>G g.153505256A>G BGN(NM_001711.4):c.257A>G (p.(Lys86Arg)), BGN(NM_001711.5):c.257A>G (p.K86R) - BGN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.257A>G r.(?) p.(Lys86Arg) - VUS g.152770714A>G g.153505256A>G - - BGN_000031 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.257A>G r.(?) p.(Lys86Arg) - likely benign g.152770714A>G g.153505256A>G BGN(NM_001711.4):c.257A>G (p.(Lys86Arg)), BGN(NM_001711.5):c.257A>G (p.K86R) - BGN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.351+6G>A r.(=) p.(=) - likely benign g.152770814G>A g.153505356G>A BGN(NM_001711.5):c.351+6G>A, BGN(NM_001711.6):c.351+6G>A - BGN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.351+6G>A r.(=) p.(=) - likely benign g.152770814G>A - BGN(NM_001711.5):c.351+6G>A, BGN(NM_001711.6):c.351+6G>A - BGN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.352-198T>G r.(=) p.(=) - VUS g.152771123T>G g.153505665T>G - - BGN_000005 - - - - Germline - - - - - Yu Sun
?/. - c.352-107del r.(=) p.(=) - VUS g.152771214del g.153505756del - - BGN_000026 - - - - Germline - - - - - Yu Sun
-?/. - c.357C>T r.(?) p.(Leu119=) - likely benign g.152771326C>T g.153505868C>T BGN(NM_001711.5):c.357C>T (p.L119=), BGN(NM_001711.6):c.357C>T (p.L119=) - BGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.357C>T r.(?) p.(Leu119=) - likely benign g.152771326C>T g.153505868C>T BGN(NM_001711.5):c.357C>T (p.L119=), BGN(NM_001711.6):c.357C>T (p.L119=) - BGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.357C>T r.(?) p.(Leu119=) - likely benign g.152771326C>T - BGN(NM_001711.5):c.357C>T (p.L119=), BGN(NM_001711.6):c.357C>T (p.L119=) - BGN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.540C>T r.(?) p.(=) - VUS g.152771509C>T g.153506051C>T - - BGN_000007 - - - - Germline - - - - - Yu Sun
?/. - c.540C>T r.(?) p.(=) - VUS g.152771509C>T g.153506051C>T - - BGN_000007 - - - - Germline - - - - - Yu Sun
-/. - c.540C>T r.(?) p.(Ser180=) - benign g.152771509C>T g.153506051C>T BGN(NM_001711.5):c.540C>T (p.S180=) - BGN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.540C>T r.(=) p.(=) - likely benign g.152771509C>T g.153506051C>T S180S - BGN_000007 recurrent, found 77 times PubMed: Tarpey 2009 - - Germline - 77/208 cases - 0 - Lucy Raymond
-/. - c.564C>T r.(?) p.(Ile188=) - benign g.152771533C>T g.153506075C>T BGN(NM_001711.4):c.564C>T (p.(Ile188=)), BGN(NM_001711.5):c.564C>T (p.I188=) - BGN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.564C>T r.(=) p.(=) - likely benign g.152771533C>T g.153506075C>T I188I - BGN_000033 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.564C>T r.(?) p.(Ile188=) - likely benign g.152771533C>T g.153506075C>T BGN(NM_001711.4):c.564C>T (p.(Ile188=)), BGN(NM_001711.5):c.564C>T (p.I188=) - BGN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.565+164A>G r.(=) p.(=) - likely benign g.152771698A>G - BGN(NM_001711.5):c.565+164A>G - BGN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.566-7C>T r.(=) p.(=) - likely benign g.152771980C>T - BGN(NM_001711.5):c.566-7C>T - BGN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.636C>T r.(?) p.(Tyr212=) - likely benign g.152772057C>T g.153506599C>T BGN(NM_001711.5):c.636C>T (p.Y212=) - BGN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.677-13C>A r.(=) p.(=) - likely benign g.152772275C>A g.153506817C>A BGN(NM_001711.5):c.677-13C>A - BGN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.752G>A r.(?) p.(Arg251His) - VUS g.152772363G>A - BGN(NM_001711.5):c.752G>A (p.R251H) - BGN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.789C>T r.(?) p.(Asn263=) - likely benign g.152772523C>T g.153507065C>T BGN(NM_001711.5):c.789C>T (p.N263=) - BGN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.804C>T r.(?) p.(Ile268=) - likely benign g.152772538C>T - BGN(NM_001711.5):c.804C>T (p.I268=) - BGN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.833C>G r.(?) p.(Thr278Ser) - likely benign g.152772567C>G - BGN(NM_001711.5):c.833C>G (p.T278S) - BGN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.909+263A>G r.(=) p.(=) - VUS g.152772906A>G g.153507448A>G - - BGN_000020 - - - - Germline - - - - - Yu Sun
-/. - c.910-18C>T r.(=) p.(=) - benign g.152773688C>T g.153508230C>T BGN(NM_001711.5):c.910-18C>T - BGN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.968T>C r.(?) p.(Met323Thr) - likely benign g.152773764T>C - BGN(NM_001711.5):c.968T>C (p.M323T) - BGN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.970G>A r.(?) p.(Gly324Ser) - VUS g.152773766G>A g.153508308G>A BGN(NM_001711.5):c.970G>A (p.G324S) - BGN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1023C>G r.(?) p.(Pro341=) - likely benign g.152773819C>G g.153508361C>G BGN(NM_001711.5):c.1023C>G (p.P341=) - BGN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1047G>A r.(?) p.(Pro349=) - likely benign g.152773843G>A g.153508385G>A BGN(NM_001711.5):c.1047G>A (p.P349=) - BGN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1063G>A r.(?) p.(Val355Ile) - likely benign g.152773859G>A g.153508401G>A BGN(NM_001711.4):c.1063G>A (p.(Val355Ile)), BGN(NM_001711.5):c.1063G>A (p.V355I) - BGN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1063G>A r.(?) p.(Val355Ile) - VUS g.152773859G>A g.153508401G>A BGN(NM_001711.4):c.1063G>A (p.(Val355Ile)), BGN(NM_001711.5):c.1063G>A (p.V355I) - BGN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1101A>C r.(?) p.(Lys367Asn) - VUS g.152773897A>C - BGN(NM_001711.5):c.1101A>C (p.K367N) - BGN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*650_*661del r.(=) p.(=) - VUS g.152774553_152774564del g.153509095_153509106del - - BGN_000021 - - - - Germline - - - - - Yu Sun
?/. - c.*652_*661del r.(=) p.(=) - VUS g.152774555_152774564del g.153509097_153509106del - - BGN_000008 - - - - Germline - - - - - Yu Sun
?/. - c.*652_*661del r.(=) p.(=) - VUS g.152774555_152774564del g.153509097_153509106del - - BGN_000008 - - - - Germline - - - - - Yu Sun
?/. - c.*842A>G r.(=) p.(=) - VUS g.152774745A>G g.153509287A>G - - BGN_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*842A>G r.(=) p.(=) - VUS g.152774745A>G g.153509287A>G - - BGN_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*934_*958del r.(=) p.(=) - VUS g.152774837_152774861del g.153509379_153509403del - - BGN_000010 - - - - Germline - - - - - Yu Sun
?/. - c.*941_*965del r.(=) p.(=) - VUS g.152774844_152774868del g.153509386_153509410del - - BGN_000025 - - - - Germline - - - - - Yu Sun
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