Full data view for gene BPTF

Information The variants shown are described using the NM_004459.6 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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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     
+/+ _1_9i c.-121653_2922-3575del r.0 p.0 Unknown ACMG pathogenic g.65700188_65896330del g.67704072_67900214del - - BPTF_000004 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - ID 28942966-Pat4 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - F no - Latino - - - - 1 Bernt Popp
-?/. - c.244_246del r.(?) p.(Pro82del) Unknown - likely benign g.65822084_65822086del - BPTF(NM_182641.4):c.244_246delCCG (p.P82del) - BPTF_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.255dup r.(?) p.(Ser86Glnfs*43) Unknown - VUS g.65822095dup - BPTF(NM_004459.7):c.255dupC (p.S86Qfs*43) - BPTF_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.535A>G r.(?) p.(Met179Val) Unknown - likely benign g.65822375A>G - BPTF(NM_182641.4):c.535A>G (p.(Met179Val)) - BPTF_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.554_556del r.(?) p.(Asp185del) Unknown - benign g.65822394_65822396del g.67826278_67826280del BPTF(NM_182641.3):c.554_556delACG (p.(Asp185del)), BPTF(NM_182641.4):c.554_556delACG (p.D185del) - BPTF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.554_556del r.(?) p.(Asp185del) Unknown - likely benign g.65822394_65822396del - BPTF(NM_182641.3):c.554_556delACG (p.(Asp185del)), BPTF(NM_182641.4):c.554_556delACG (p.D185del) - BPTF_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.614-4160A>C r.(=) p.(=) Unknown - likely benign g.65845896A>C - BPTF(NM_182641.4):c.614-4160A>C - BPTF_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.649_651del r.(?) p.(Pro217del) Unknown - VUS g.65850091_65850093del - BPTF(NM_182641.4):c.649_651del (p.(Pro217del)) - BPTF_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.989del r.(?) p.(Leu330Argfs*28) Unknown ACMG pathogenic g.65850431del g.67854315del - - BPTF_000009 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - ID 28942966-Pat9 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - - - 1 Bernt Popp
?/. - c.1319C>G r.(?) p.(Pro440Arg) Unknown - VUS g.65850761C>G - BPTF(NM_182641.4):c.1319C>G (p.(Pro440Arg)) - BPTF_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1369C>T r.(?) p.(Arg457*) Unknown - likely pathogenic g.65850811C>T - - - BPTF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501G>A r.(?) p.(Ala501Thr) Unknown - likely benign g.65862644G>A - BPTF(NM_182641.3):c.1501G>A (p.(Ala501Thr)) - BPTF_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1527A>C r.(?) p.(Lys509Asn) Unknown - likely pathogenic g.65862670A>C - - - BPTF_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1657A>G r.(?) p.(Asn553Asp) Unknown - likely benign g.65862800A>G - BPTF(NM_004459.7):c.1657A>G (p.N553D) - BPTF_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1660+10G>A r.(=) p.(=) Unknown - likely benign g.65862813G>A - BPTF(NM_182641.4):c.1660+10G>A - BPTF_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1996G>A r.(?) p.(Asp666Asn) Unknown - likely benign g.65871803G>A - BPTF(NM_004459.7):c.1996G>A (p.D666N) - BPTF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2003_2005del r.(?) p.(Ser668del) Unknown - VUS g.65871810_65871812del - BPTF(NM_004459.7):c.2003_2005del (p.(Ser668del)) - BPTF_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2012C>A r.(?) p.(Ala671Glu) Unknown - likely benign g.65871819C>A - BPTF(NM_004459.6):c.2012C>A (p.(Ala671Glu)) - BPTF_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2053+6G>C r.(=) p.(=) Unknown - likely benign g.65871866G>C - BPTF(NM_004459.7):c.2053+6G>C - BPTF_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2114C>T r.(?) p.(Pro705Leu) Unknown - VUS g.65882304C>T - BPTF(NM_004459.7):c.2114C>T (p.P705L) - BPTF_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2180C>T r.(?) p.(Ala727Val) Unknown - likely benign g.65882370C>T - BPTF(NM_004459.6):c.2180C>T (p.(Ala727Val)) - BPTF_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2231A>G r.(?) p.(Gln744Arg) Unknown - VUS g.65882421A>G g.67886305A>G BPTF(NM_004459.6):c.2231A>G (p.(Gln744Arg)) - BPTF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2391C>T r.(?) p.(Ala797=) Unknown - likely benign g.65888108C>T g.67891992C>T BPTF(NM_182641.4):c.2013C>T (p.A671=) - BPTF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.2744del r.(?) p.(Asn915Thrfs*36) Unknown ACMG pathogenic g.65889796del g.67893680del - - BPTF_000011 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - - - - - - - - - - - - - - -
+/. - c.2780_2781insTGAT r.(?) p.(Ser928AspfsTer4) Unknown - pathogenic g.65889832_65889833insTGAT g.67893716_67893717insTGAT BPTF(NM_182641.4):c.2402_2403insTGAT (p.S802Dfs*4) - BPTF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2790-3C>T r.spl? p.? Unknown - VUS g.65890147C>T - - - BPTF_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.2860dup r.(?) p.(Glu954Glyfs*5) Unknown ACMG pathogenic g.65890220dup g.67894104dup - - BPTF_000001 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - ID 28942966-Pat1 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - yes - 1 Bernt Popp
-?/. - c.2879T>G r.(?) p.(Val960Gly) Unknown - likely benign g.65890239T>G - BPTF(NM_182641.3):c.2501T>G (p.(Val834Gly)) - BPTF_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9i_30_ c.2922-1506_*8577del r.0? p.0? Unknown ACMG likely pathogenic g.65898399_65986981del g.67902283_67990865del - - BPTF_000005 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - Unknown yes - - - - DNA SEQ-NG - - ID 28942966-Pat5 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - F no - Latino - - - - 1 Bernt Popp
-?/. - c.2922-69G>A r.(=) p.(=) Unknown - likely benign g.65899836G>A - BPTF(NM_182641.4):c.2544-69G>A - BPTF_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2922-3T>A r.spl? p.? Unknown - likely benign g.65899902T>A - BPTF(NM_182641.4):c.2544-3T>A - BPTF_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2943T>G r.(?) p.(Ile981Met) Unknown - likely benign g.65899926T>G g.67903810T>G BPTF(NM_004459.6):c.2943T>G (p.(Ile981Met)) - BPTF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2976del r.(?) p.(Glu993Argfs*16) Unknown - VUS g.65899959del - BPTF(NM_004459.7):c.2976delA (p.E993Rfs*16) - BPTF_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3051+19C>G r.(=) p.(=) Unknown - likely benign g.65900053C>G - BPTF(NM_182641.4):c.2673+19C>G - BPTF_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3233_3237del r.(?) p.(Arg1078MetfsTer13) Unknown - likely pathogenic g.65905740_65905744del - BPTF(NM_004459.6):c.3229_3233del (p.(Arg1078Metfs*13)) - BPTF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3328A>G r.(?) p.(Asn1110Asp) Unknown - likely benign g.65905835A>G g.67909719A>G BPTF(NM_004459.6):c.3328A>G (p.(Asn1110Asp)) - BPTF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12_12i c.3360_3370+1del r.spl p.0? Unknown ACMG pathogenic g.65905867_65905878del g.67909751_67909762del - - BPTF_000006 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - ID 28942966-Pat6 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - - - 1 Bernt Popp
?/. - c.3438_3440del r.(?) p.(Asp1147del) Unknown - VUS g.65907060_65907062del - BPTF(NM_182641.4):c.3060_3062del (p.(Asp1021del)) - BPTF_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3520A>G r.(?) p.(Arg1174Gly) Unknown - VUS g.65907142A>G - BPTF(NM_182641.3):c.3142A>G (p.(Arg1048Gly)) - BPTF_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3524C>T r.(?) p.(Thr1175Ile) Unknown - VUS g.65907146C>T - BPTF(NM_004459.7):c.3524C>T (p.T1175I) - BPTF_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3778G>A r.(?) p.(Glu1260Lys) Unknown - VUS g.65907400G>A - BPTF(NM_182641.4):c.3400G>A (p.(Glu1134Lys)) - BPTF_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3861T>G r.(?) p.(Tyr1287*) Unknown - likely pathogenic g.65907483T>G - BPTF(NM_182641.3):c.3483T>G (p.(Tyr1161*)) - BPTF_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4022T>C r.(?) p.(Ile1341Thr) Unknown - likely benign g.65907644T>C g.67911528T>C BPTF(NM_004459.6):c.4022T>C (p.(Ile1341Thr)) - BPTF_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4022T>C r.(?) p.(Ile1341Thr) Parent #2 - VUS g.65907644T>C - 3644T>C (Ile1215Thr) - BPTF_000025 - PubMed: Ackerman 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES CHTD patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
-?/. - c.4085C>T r.(?) p.(Pro1362Leu) Unknown - likely benign g.65907707C>T - BPTF(NM_182641.4):c.3707C>T (p.(Pro1236Leu)) - BPTF_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4292A>G r.(?) p.(Asp1431Gly) Unknown - likely benign g.65907914A>G g.67911798A>G BPTF(NM_004459.6):c.4292A>G (p.(Asp1431Gly)), BPTF(NM_004459.7):c.4292A>G (p.D1431G) - BPTF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4292A>G r.(?) p.(Asp1431Gly) Unknown - likely benign g.65907914A>G - BPTF(NM_004459.6):c.4292A>G (p.(Asp1431Gly)), BPTF(NM_004459.7):c.4292A>G (p.D1431G) - BPTF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4427C>T r.(?) p.(Pro1476Leu) Unknown - likely benign g.65908049C>T - BPTF(NM_182641.4):c.4049C>T (p.(Pro1350Leu)) - BPTF_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4531A>G r.(?) p.(Thr1511Ala) Unknown - likely benign g.65908153A>G - BPTF(NM_182641.4):c.4153A>G (p.(Thr1385Ala)) - BPTF_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.4555C>T r.(?) p.(Arg1519*) Unknown ACMG likely pathogenic g.65908177C>T g.67912061C>T - - BPTF_000076 - - - - Germline ? - - - - DNA SEQ-NG-I peripheral blood WES ID - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.4573G>A r.(?) p.(Gly1525Arg) Unknown - VUS g.65908195G>A - BPTF(NM_004459.7):c.4573G>A (p.G1525R) - BPTF_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4577A>G r.(?) p.(Gln1526Arg) Unknown - likely benign g.65908199A>G - BPTF(NM_182641.4):c.4199A>G (p.(Gln1400Arg)) - BPTF_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4630T>A r.(?) p.(Leu1544Met) Unknown - likely benign g.65908252T>A - BPTF(NM_182641.4):c.4252T>A (p.(Leu1418Met)) - BPTF_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4700A>G r.(?) p.(Asn1567Ser) Unknown - likely benign g.65908322A>G - BPTF(NM_182641.4):c.4322A>G (p.(Asn1441Ser)) - BPTF_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4808A>C r.(?) p.(Glu1603Ala) Unknown - likely benign g.65908430A>C - BPTF(NM_182641.3):c.4430A>C (p.(Glu1477Ala)) - BPTF_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4970T>A r.(?) p.(Val1657Glu) Unknown - VUS g.65908592T>A - BPTF(NM_182641.3):c.4592T>A (p.(Val1531Glu)) - BPTF_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5196A>T r.(?) p.(Glu1732Asp) Unknown - likely benign g.65908818A>T - BPTF(NM_182641.3):c.4818A>T (p.(Glu1606Asp)) - BPTF_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.5216_5217del r.(?) p.(Val1739Glyfs*96) Unknown ACMG pathogenic g.65908838_65908839del g.67912722_67912723del - - BPTF_000002 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG - - ID 28942966-Pat2 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - Latino - - yes - 1 Bernt Popp
?/. - c.5354C>T r.(?) p.(Thr1785Met) Unknown - VUS g.65908976C>T - BPTF(NM_182641.3):c.4976C>T (p.(Thr1659Met)) - BPTF_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5395G>A r.(?) p.(Val1799Ile) Unknown - likely benign g.65909017G>A - BPTF(NM_182641.3):c.5017G>A (p.(Val1673Ile)) - BPTF_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5674A>T r.(?) p.(Thr1892Ser) Unknown - VUS g.65909296A>T - BPTF(NM_182641.4):c.5296A>T (p.T1766S) - BPTF_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5731C>T r.(?) p.(Arg1911Trp) Unknown - VUS g.65914879C>T g.67918763C>T - - BPTF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 14 c.5770G>A r.(?) p.(Ala1924Thr) Unknown ACMG likely pathogenic g.65914918G>A g.67918802G>A - - BPTF_000007 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - ID 28942966-Pat7 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - white - - - - 1 Bernt Popp
?/. - c.5776G>T r.(?) p.(Ala1926Ser) Unknown - VUS g.65914924G>T - BPTF(NM_182641.4):c.5398G>T (p.(Ala1800Ser)) - BPTF_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5846_5848del r.(?) p.(Lys1949del) Unknown - VUS g.65916170_65916172del - BPTF(NM_182641.3):c.5468_5470delAGA (p.(Lys1823del)) - BPTF_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5936-1G>A r.spl? p.? Unknown - likely pathogenic g.65918955G>A - BPTF(NM_182641.4):c.5558-1G>A - BPTF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6161T>C r.(?) p.(Ile2054Thr) Unknown - likely benign g.65924502T>C - BPTF(NM_182641.3):c.5783T>C (p.(Ile1928Thr)) - BPTF_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6295C>T r.(?) p.(Pro2099Ser) Unknown - VUS g.65924636C>T - BPTF(NM_182641.4):c.5917C>T (p.(Pro1973Ser)) - BPTF_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6334C>T r.(?) p.(Gln2112Ter) Unknown - VUS g.65924675C>T g.67928559C>T BPTF(NM_182641.4):c.5956C>T (p.Q1986*) - BPTF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6469G>A r.(?) p.(Ala2157Thr) Unknown - likely benign g.65925544G>A - BPTF(NM_182641.3):c.6091G>A (p.(Ala2031Thr)) - BPTF_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6562A>C r.(?) p.(Thr2188Pro) Unknown - likely benign g.65928060A>C - BPTF(NM_182641.3):c.6184A>C (p.(Thr2062Pro)) - BPTF_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6607A>G r.(?) p.(Ile2203Val) Parent #1 - VUS g.65928105A>G - 6229A>G (Ile2077Val) - BPTF_000039 - PubMed: Ackerman 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES CHTD patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
-?/. - c.6607A>G r.(?) p.(Ile2203Val) Unknown - likely benign g.65928105A>G - BPTF(NM_182641.4):c.6229A>G (p.(Ile2077Val)) - BPTF_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6628G>C r.(?) p.(Val2210Leu) Unknown - VUS g.65928126G>C - BPTF(NM_182641.3):c.6250G>C (p.(Val2084Leu)) - BPTF_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6638-703C>T r.(=) p.(=) Unknown - likely benign g.65935852C>T - BPTF(NM_182641.4):c.6260-703C>T - BPTF_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6947C>A r.(?) p.(Pro2316Gln) Unknown - VUS g.65940357C>A - BPTF(NM_182641.3):c.6569C>A (p.(Pro2190Gln)) - BPTF_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7046C>T r.(?) p.(Thr2349Ile) Unknown - VUS g.65940456C>T - BPTF(NM_182641.3):c.6668C>T (p.(Thr2223Ile)) - BPTF_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7566+86T>G r.(=) p.(=) Unknown - likely benign g.65942098T>G - BPTF(NM_182641.3):c.7274T>G (p.(Ile2425Arg)) - BPTF_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7566+188A>C r.(=) p.(=) Unknown - likely benign g.65942200A>C - BPTF(NM_182641.3):c.7376A>C (p.(Gln2459Pro)) - BPTF_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7566+202C>T r.(=) p.(=) Unknown - likely benign g.65942214C>T - - - BPTF_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7732C>T r.(?) p.(Arg2578Cys) Unknown - VUS g.65944279C>T g.67948163C>T BPTF(NM_182641.4):c.7783C>T (p.R2595C) - BPTF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7733G>A r.(?) p.(Arg2578His) Unknown - likely benign g.65944280G>A - BPTF(NM_182641.4):c.7784G>A (p.(Arg2595His)) - BPTF_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7876-3533T>C r.(=) p.(=) Unknown - likely benign g.65952124T>C - BPTF(NM_182641.4):c.7927-3533T>C - BPTF_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8001_8002insGCCCCTCCAGCCCCTCCAGCCCCTCCA r.(?) p.(Ala2659_Pro2667dup) Unknown - likely benign g.65955782_65955783insGCCCCTCCAGCCCCTCCAGCCCCTCCA - BPTF(NM_004459.7):c.8001_8002insGCCCCTCCAGCCCCTCCAGCCCCTCCA (p.A2659_P2667dup) - BPTF_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8211-563_8211-562del r.(=) p.(=) Unknown - likely benign g.65959765_65959766del - BPTF(NM_182641.4):c.8262-563_8262-562del - BPTF_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 26i c.8211-2A>G r.spl p.0? Unknown ACMG pathogenic g.65960326A>G g.67964210A>G - - BPTF_000010 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - ID 28942966-Pat10 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - Latino - - - - 1 Bernt Popp
?/. - c.8368T>G r.(?) p.(Tyr2790Asp) Unknown - VUS g.65960485T>G - - - BPTF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8403+1G>A r.spl? p.? Unknown - VUS g.65960521G>A - - - BPTF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8405C>T r.(?) p.(Ala2802Val) Unknown - VUS g.65962689C>T - BPTF(NM_182641.3):c.8456C>T (p.(Ala2819Val)) - BPTF_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 29 c.8558T>G r.(?) p.(Met2853Arg) Unknown ACMG VUS g.65971957T>G g.67975841T>G - - BPTF_000008 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - Unknown ? - - - - DNA SEQ-NG - - ID 28942966-Pat8 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - ? ? - - - - - - 1 Bernt Popp
?/. - c.8558T>G r.(?) p.(Met2853Arg) Unknown - VUS g.65971957T>G g.67975841T>G - - BPTF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 29 c.8650A>T r.(?) p.(Lys2884*) Unknown ACMG pathogenic g.65972049A>T g.67975933A>T - - BPTF_000003 - PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - - De novo yes - - - - DNA SEQ-NG - - ID 28942966-Pat3 PubMed: Stankiewicz 2017, Journal: Stankiewicz 2017 - M no - Latino - - yes - 1 Bernt Popp
-?/. - c.8676-349_8676-348del r.(=) p.(=) Unknown - likely benign g.65978019_65978020del - BPTF(NM_182641.4):c.8727-349_8727-348del - BPTF_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*253T>C r.(=) p.(=) Unknown - VUS g.65978657T>C - BPTF(NM_182641.4):c.*253T>C - BPTF_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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