Full data view for gene RERE

Information The variants shown are described using the NM_001042681.1 transcript reference sequence.

164 entries on 2 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     
+/. _1i_23_ c.(?_-145+74206)_*2683{0} r.? p.? Unknown - pathogenic (dominant) g.(?_8803013)_(11739523_?)del - - - RERE_000070 - PubMed: Zaveri 2014 - - De novo - - - - - DNA arrayCGH - - del 1p36 Pat6 PubMed: Zaveri 2014 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11i c.-625_(1203+16097_1204-14324){0} r.0? p.0? Unknown - pathogenic (dominant) g.(8497191_8509888)_(8803072_8813784)del - - - RERE_000067 - PubMed: Jordan 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - NDD Pat1 PubMed: Jordan 2018 - M - - Hispanic - - - - 1 Johan den Dunnen
+/. _1_12i_ c.-625_(1285-1599_?){0} r.? p.? Unknown - pathogenic (dominant) g.(pter)_(8427633_?)del - - - RERE_000053 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat42 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_2i_ c.-625_(326-2729_?){0} r.? p.? Unknown - pathogenic (dominant) g.(pter)_(8687168_?)del - - - RERE_000054 - PubMed: Paciorkowski 2011, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat1p105-C PubMed: Paciorkowski 2011, PubMed: Fregeau 2016 - - - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(pter)_(9251936_?)del - - - RERE_000055 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat44 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(pter)_(9953030_?)del - - - RERE_000055 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat45 PubMed: Shimada 2015, PubMed: Fregeau 2016 - M - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(pter)_(10001011_?)del - - - RERE_000055 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat46 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(pter)_(10247416_?)del - - - RERE_000055 - PubMed: Campeau 2008, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat1 PubMed: Campeau 2008, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(pter)_(11809959_?)del - - - RERE_000055 - PubMed: Bursztejn 2009, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 - PubMed: Bursztejn 2009, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(pter)_(12917483_?)del - - - RERE_000055 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat49 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_564205)_(10821909_?)del - - - RERE_000055 - PubMed: Arndt 2013, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat6 PubMed: Arndt 2013, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_564424)_(16177338_?)del - - - RERE_000055 - PubMed: Nicoulaz 2011, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 - PubMed: Nicoulaz 2011, PubMed: Fregeau 2016 - - - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_2080309)_(10869155_?)del - - - RERE_000055 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat47 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_2785042)_(12743178_?)del - - - RERE_000055 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat48 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_3224674)_(12540397_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 2353 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_3302941)_(12452716_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 1P-11-01 PubMed: Fregeau 2016 - F - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_3694647)_(15600085_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 ECARUCA 4725 PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_3768946)_(18563553_?)del - - - RERE_000055 - PubMed: Kang 2007, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat3 PubMed: Kang 2007, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_4089259)_(12054030_?)del - - - RERE_000055 - PubMed: Arndt 2013, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat16 PubMed: Arndt 2013, PubMed: Fregeau 2016 - M - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_4171067)_(12614542_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 ECARUCA 4874 PubMed: Fregeau 2016 - M - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_4317448)_(13867316_?)del - - - RERE_000055 - PubMed: Kang 2007, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat5 PubMed: Kang 2007, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_4737853)_(10402188_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 255695 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_4795388)_(17364849_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 2483 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_4843323)_(16397974_?)del - - - RERE_000055 - PubMed: Kang 2007, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat2 PubMed: Kang 2007, PubMed: Fregeau 2016 - M - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_5920313)_(10753137_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 2848 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_5943597)_(12540397_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 250349 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_6614950)_(16890814_?)del - - - RERE_000055 - PubMed: Shimada 2015, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat50 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_6731238)_(11945039_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 1P-08-01 PubMed: Fregeau 2016 - F - United States - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_6942678)_(15390930_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 255591 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_7812397)_(13488491_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 248448 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_8037608)_(12540406_?)del - - - RERE_000055 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 DECIPHER 252259 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_23_ c.-625_*2683{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_8395179)_(11362893_?)del - - - RERE_000055 - PubMed: Kang 2007, PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - del 1p36 Pat4 PubMed: Kang 2007, PubMed: Fregeau 2016 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.-145+47227G>A r.(=) p.(=) Unknown - likely benign g.8829992C>T - RERE(NM_001042681.2):c.-145+47227G>A - RERE_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-144-74051C>T r.(=) p.(=) Unknown - likely benign g.8790551G>A - RERE(NM_001042681.2):c.-144-74051C>T - RERE_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-144-41238G>A r.(=) p.(=) Unknown - likely benign g.8757738C>T - RERE(NM_001042681.2):c.-144-41238G>A - RERE_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30_35del r.(?) p.(Asp10_Lys11del) Unknown - likely benign g.8716342_8716347del g.8656283_8656288del RERE(NM_001042681.1):c.30_35delCAAAGA (p.(Asp10_Lys11del)) - RERE_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30_35dup r.(?) p.(Asp10_Lys11dup) Unknown - likely benign g.8716342_8716347dup - RERE(NM_012102.4):c.30_35dupCAAAGA (p.D10_K11dup) - RERE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45_50dup r.(?) p.(Asp20_Arg21dup) Unknown - benign g.8716313_8716318dup - RERE(NM_012102.3):c.45_50dupGGACCG (p.D20_R21dup) - RERE_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.55C>T r.(?) p.(Arg19Trp) Unknown - likely benign g.8716302G>A - RERE(NM_001042681.1):c.55C>T (p.(Arg19Trp)) - RERE_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182A>T r.(?) p.(Asn61Ile) Unknown - VUS g.8716175T>A g.8656116T>A - - RERE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232A>G r.(?) p.(Lys78Glu) Unknown - VUS g.8716125T>C - RERE(NM_001042681.1):c.232A>G (p.(Lys78Glu)) - RERE_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248dup r.(?) p.(Ser84ValfsTer4) Unknown - pathogenic (dominant) g.8716116dup g.8656057dup c.248dupA - RERE_000069 - PubMed: Jordan 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Jordan 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - - Hispanic - - - - 1 Johan den Dunnen
-?/. - c.253C>T r.(?) p.(Arg85Cys) Unknown - likely benign g.8716104G>A - RERE(NM_001042681.1):c.253C>T (p.(Arg85Cys)) - RERE_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.348del r.(?) p.(Arg117Glyfs*57) Unknown ACMG likely pathogenic (dominant) g.8684418del g.8624359del - - RERE_000051 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - NEDBEH 204274 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.355A>G r.(?) p.(Asn119Asp) Unknown - likely benign g.8684410T>C g.8624351T>C RERE(NM_012102.4):c.355A>G (p.N119D) - RERE_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488A>C r.(?) p.(Gln163Pro) Unknown - VUS g.8674654T>G - RERE(NM_001042681.1):c.488A>C (p.(Gln163Pro)) - RERE_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.522+6701T>C r.(=) p.(=) Unknown - likely benign g.8667919A>G - RERE(NM_001042681.2):c.522+6701T>C - RERE_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.571T>C r.(?) p.(Ser191Pro) Unknown - VUS g.8617534A>G g.8557475A>G RERE(NM_001042681.1):c.571T>C (p.(Ser191Pro)) - RERE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697G>A r.(?) p.(Val233Ile) Unknown - likely benign g.8616562C>T - RERE(NM_001042681.2):c.697G>A (p.(Val233Ile)), RERE(NM_012102.4):c.697G>A (p.V233I) - RERE_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.697G>A r.(?) p.(Val233Ile) Unknown - likely benign g.8616562C>T - RERE(NM_001042681.2):c.697G>A (p.(Val233Ile)), RERE(NM_012102.4):c.697G>A (p.V233I) - RERE_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797T>C r.(?) p.(Phe266Ser) Unknown - VUS g.8601306A>G - RERE(NM_012102.4):c.797T>C (p.F266S) - RERE_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831-7553dup r.(=) p.(=) Unknown - likely benign g.8576308dup - RERE(NM_001042681.2):c.831-7553dup - RERE_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831-6574G>C r.(=) p.(=) Unknown - likely benign g.8575308C>G - RERE(NM_001042681.2):c.831-6574G>C - RERE_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.880-4301C>G r.(=) p.(=) Unknown - likely benign g.8561890G>C - RERE(NM_001042681.2):c.880-4301C>G - RERE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031G>T r.(?) p.(Cys344Phe) Unknown - VUS g.8555196C>A - RERE(NM_012102.4):c.1031G>T (p.C344F) - RERE_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062C>T r.(?) p.(Val354=) Unknown - likely benign g.8555165G>A - RERE(NM_012102.4):c.1062C>T (p.V354=) - RERE_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104A>C r.(?) p.(=) Unknown - likely benign g.8555123T>G - RERE(NM_001042681.2):c.1104A>C (p.(Thr368=)) - RERE_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1104del r.spl p.? Unknown - likely pathogenic (dominant) g.8555123del g.8495063del 1104delA - RERE_000068 - PubMed: Fregeau 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected parents M - - Europe - - - - 1 Johan den Dunnen
-?/. - c.1105-2788C>T r.(=) p.(=) Unknown - likely benign g.8528871G>A - RERE(NM_001042681.2):c.1105-2788C>T - RERE_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169A>G r.(?) p.(Lys390Arg) Unknown - likely benign g.8526019T>C - RERE(NM_012102.4):c.1169A>G (p.K390R) - RERE_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1306T>G r.(?) p.(Tyr436Asp) Unknown - VUS g.8426013A>C g.8365953A>C RERE(NM_012102.3):c.1306T>G (p.(Tyr436Asp)) - RERE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1411G>A r.(?) p.(Val471Ile) Unknown - likely pathogenic (dominant) g.8425908C>T g.8365848C>T - - RERE_000066 - PubMed: Fregeau 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Fregeau 2016 affected twin brother M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.1411G>A r.(?) p.(Val471Ile) Unknown - likely benign g.8425908C>T - RERE(NM_001042681.2):c.1411G>A (p.(Val471Ile)) - RERE_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1418C>T r.(?) p.(Thr473Ile) Unknown - likely benign g.8425901G>A g.8365841G>A RERE(NM_001042681.2):c.1418C>T (p.(Thr473Ile)) - RERE_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1540+10C>T r.(=) p.(=) Unknown - likely benign g.8424796G>A g.8364736G>A RERE(NM_012102.3):c.1540+10C>T - RERE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1591G>A r.(?) p.(Asp531Asn) Unknown - VUS g.8424265C>T - RERE(NM_012102.4):c.1591G>A (p.D531N) - RERE_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1634T>C r.(?) p.(Ile545Thr) Unknown - VUS g.8424222A>G - RERE(NM_012102.4):c.1634T>C (p.I545T) - RERE_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1684dup r.(?) p.(Glu562GlyfsTer3) Unknown - VUS g.8424172dup - RERE(NM_012102.3):c.1684dupG (p.E562Gfs*3) - RERE_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1714A>G r.(?) p.(Met572Val) Unknown - likely benign g.8424142T>C - RERE(NM_012102.4):c.1714A>G (p.M572V) - RERE_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1725_1737dup r.(?) p.(Ser580Alafs*21) Unknown - likely pathogenic g.8424119_8424131dup - RERE(NM_012102.4):c.1725_1737dupGCGGAGTCGGGGC (p.S580Afs*21) - RERE_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1727G>A r.(?) p.(Arg576Gln) Unknown - VUS g.8424129C>T - RERE(NM_001042681.1):c.1727G>A (p.(Arg576Gln)) - RERE_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1745C>T r.(?) p.(Ser582Leu) Unknown - VUS g.8422900G>A - RERE(NM_001042681.1):c.1745C>T (p.(Ser582Leu)) - RERE_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1811A>G r.(?) p.(Glu604Gly) Unknown - VUS g.8422834T>C - RERE(NM_012102.4):c.1811A>G (p.E604G) - RERE_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1816A>G r.(?) p.(Ile606Val) Unknown - likely benign g.8422829T>C - RERE(NM_001042681.1):c.1816A>G (p.(Ile606Val)) - RERE_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1831C>G r.(?) p.(Arg611Gly) Unknown - VUS g.8422814G>C - RERE(NM_012102.4):c.1831C>G (p.R611G) - RERE_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1903-4G>A r.spl? p.? Unknown - likely benign g.8421940C>T - RERE(NM_012102.4):c.1903-4G>A - RERE_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1964C>T r.(?) p.(Ala655Val) Unknown - likely benign g.8421875G>A g.8361815G>A RERE(NM_001042681.1):c.1964C>T (p.(Ala655Val)), RERE(NM_012102.3):c.1964C>T (p.A655V) - RERE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1964C>T r.(?) p.(Ala655Val) Unknown - likely benign g.8421875G>A - RERE(NM_001042681.1):c.1964C>T (p.(Ala655Val)), RERE(NM_012102.3):c.1964C>T (p.A655V) - RERE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2030C>A r.(?) p.(Pro677His) Unknown - VUS g.8421537G>T - - - RERE_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2050G>A r.(?) p.(Glu684Lys) Unknown - VUS g.8421517C>T - RERE(NM_012102.4):c.2050G>A (p.E684K) - RERE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2086G>C r.(?) p.(Glu696Gln) Unknown - VUS g.8421481C>G - RERE(NM_012102.4):c.2086G>C (p.E696Q) - RERE_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2239G>T r.(?) p.(Val747Phe) Unknown - likely benign g.8421328C>A g.8361268C>A RERE(NM_001042681.1):c.2239G>T (p.(Val747Phe)) - RERE_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2249_2270dup r.(?) p.(Thr758SerfsTer36) Unknown - likely pathogenic (dominant) g.8421298_8421319dup g.8361238_8361259dup - - RERE_000065 - PubMed: Fregeau 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.2278C>T r.(?) p.(Gln760Ter) Unknown - likely pathogenic (dominant) g.8361229G>A g.8421289G>A - - RERE_000052 - PubMed: Krumm 2015, PubMed: Fregeau 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD 11654.p1;Pat10 PubMed: Krumm 2015, PubMed: Fregeau 2016 - F - United States - - - - - 1 Johan den Dunnen
?/. - c.2288C>T r.(?) p.(Thr763Met) Unknown - VUS g.8421279G>A g.8361219G>A RERE(NM_012102.4):c.2288C>T (p.T763M) - RERE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2422C>A r.(?) p.(Pro808Thr) Unknown - likely benign g.8421145G>T - RERE(NM_001042681.2):c.2422C>A (p.(Pro808Thr)) - RERE_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2439_2450del r.(?) p.(Pro817_Pro820del) Unknown - VUS g.8421118_8421129del - RERE(NM_012102.4):c.2439_2450delACCGCATCCCCC (p.P817_P820del) - RERE_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2449_2460dup r.(?) p.(Pro817_Pro820dup) Unknown - likely benign g.8421116_8421127dup g.8361056_8361067dup RERE(NM_012102.4):c.2449_2460dupCCGCCGCATCCC (p.P817_P820dup) - RERE_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2461_2463del r.(?) p.(Ser821del) Unknown - likely benign g.8421104_8421106del - RERE(NM_001042681.2):c.2461_2463del (p.(Ser821del)) - RERE_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2468_2476del r.(?) p.(His823_Pro825del) Unknown - likely benign g.8421092_8421100del - RERE(NM_001042681.2):c.2468_2476del (p.(His823_Pro825del)) - RERE_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2471C>T r.(?) p.(Pro824Leu) Unknown - likely benign g.8421096G>A - RERE(NM_001042681.1):c.2471C>T (p.(Pro824Leu)) - RERE_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2557G>A r.(?) p.(Gly853Ser) Unknown - likely benign g.8421010C>T - RERE(NM_001042681.1):c.2557G>A (p.(Gly853Ser)) - RERE_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2598A>T r.(?) p.(Pro866=) Unknown - likely benign g.8420969T>A - RERE(NM_012102.4):c.2598A>T (p.P866=) - RERE_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2675C>T r.(?) p.(Ala892Val) Unknown - VUS g.8420892G>A - RERE(NM_001042681.2):c.2675C>T (p.(Ala892Val)) - RERE_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2741G>A r.(?) p.(Arg914Gln) Unknown - likely benign g.8420826C>T - RERE(NM_001042681.1):c.2741G>A (p.(Arg914Gln)) - RERE_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2746C>T r.(?) p.(Gln916Ter) Unknown - VUS g.8420821G>A g.8360761G>A RERE(NM_001042681.1):c.2746C>T (p.(Gln916Ter)) - RERE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2842C>T r.(?) p.(Pro948Ser) Unknown - VUS g.8420725G>A - RERE(NM_001042681.1):c.2842C>T (p.(Pro948Ser)) - RERE_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2857G>T r.(?) p.(Gly953Trp) Unknown - VUS g.8420710C>A - RERE(NM_012102.4):c.2857G>T (p.G953W) - RERE_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2872T>C r.(?) p.(Ser958Pro) Unknown - VUS g.8420695A>G g.8360635A>G RERE(NM_012102.4):c.2872T>C (p.S958P) - RERE_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3058del r.(?) p.(His1020Thrfs*61) Unknown - VUS g.8420511del - RERE(NM_012102.4):c.3058delC (p.H1020Tfs*61) - RERE_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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