Full data view for gene GREB1L

Information The variants shown are described using the NM_001142966.1 transcript reference sequence.

109 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     
-?/. - c.-120+35993_-120+35994insTA r.(=) p.(=) Unknown - likely benign g.18858347_18858348insTA - GREB1L(NM_001142966.3):c.-120+35993_-120+35994insTA - GREB1L_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.37C>T r.(?) p.(Arg13*) Unknown - pathogenic g.18963516C>T g.21383555C>T - - GREB1L_000002 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT 29100090-FamDC8 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - - - - 1 Johan den Dunnen
?/. - c.170A>G r.(?) p.(Lys57Arg) Unknown - VUS g.18964179A>G - - - GREB1L_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251A>G r.(?) p.(Asn84Ser) Unknown - VUS g.18964260A>G - GREB1L(NM_001142966.1):c.251A>G (p.(Asn84Ser)) - GREB1L_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>A r.(?) p.(Glu93Lys) Unknown - VUS g.18964286G>A g.21384325G>A GREB1L(NM_001142966.2):c.277G>A (p.E93K) - GREB1L_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277G>A r.(?) p.(Glu93Lys) Unknown - likely benign g.18964286G>A - GREB1L(NM_001142966.2):c.277G>A (p.E93K) - GREB1L_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.277G>A r.spl? p.(Glu93Lys) Unknown ACMG VUS g.18964286G>A g.21384325G>A - - GREB1L_000029 - PubMed: Jacquinet 20209 - rs185578147 Germline/De novo (untested) - - - - - DNA MIPsm, SEQ - - ? U120 PubMed: Jacquinet 20209 - - - - - - - - - 1 Johan den Dunnen
+/. - c.277G>A r.spl? p.(Glu93Lys) Unknown ACMG VUS g.18964286G>A g.21384325G>A - - GREB1L_000029 - PubMed: Jacquinet 20209 - rs185578147 Germline/De novo (untested) - - - - - DNA MIPsm, SEQ - - ? U149 PubMed: Jacquinet 20209 - - - - - - - - - 1 Johan den Dunnen
+/. - c.277G>A r.spl? p.(Glu93Lys) Paternal (confirmed) ACMG VUS g.18964286G>A g.21384325G>A - - GREB1L_000029 - PubMed: Jacquinet 20209 - rs185578147 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9PatIII1 PubMed: Jacquinet 20209 3-generation family, 2 affected fetus sisters F - - - <0d - - - 3 Johan den Dunnen
+/. - c.277G>A r.spl? p.(Glu93Lys) Paternal (confirmed) ACMG VUS g.18964286G>A g.21384325G>A - - GREB1L_000029 - PubMed: Jacquinet 20209 - rs185578147 Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9PatIII2 PubMed: Jacquinet 20209 fetus sister F - - - <0d - - - 1 Johan den Dunnen
+/. - c.277G>A r.spl? p.(Glu93Lys) Parent #1 ACMG VUS g.18964286G>A g.21384325G>A - - GREB1L_000029 - PubMed: Jacquinet 20209 - rs185578147 Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES Healthy/Control Fam9PatII2 PubMed: Jacquinet 20209 father M - - - - - - - 1 Johan den Dunnen
+?/. - c.347C>T r.(?) p.(Thr116Ile) Maternal (confirmed) ACMG VUS (!) g.18964356C>T g.21384395C>T - - GREB1L_000056 ACMG PM2, PP2, PP3, PP4; reduced penetrance PubMed: Schrauwen 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES deafness Fam2 PubMed: Schrauwen 2020 2-generation family, 1 affected, unaffected carrier mother F no Egypt - - - - - 1 Johan den Dunnen
+/. 5 c.383G>A r.(?) p.(Arg128His) Unknown - pathogenic g.18975373G>A g.21395412G>A - - GREB1L_000003 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT 29100090-FamDC9 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.575G>T r.(?) p.(Arg192Leu) Maternal (confirmed) - pathogenic g.18981153G>T g.21401192G>T - - GREB1L_000019 - PubMed: de Tomasi 2017 - - Germline yes - - - - DNA SEQ - - CAKUT 29100091-Fam9 PubMed: de Tomasi 2017 2-generation family, 3 affecteds (2F, M) F;M - France - - - - - 3 Johan den Dunnen
-?/. - c.833-9G>A r.(=) p.(=) Unknown - likely benign g.19019473G>A - GREB1L(NM_001142966.2):c.833-9G>A - GREB1L_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.848A>G r.spl? p.(Asn283Ser) Paternal (confirmed) ACMG likely pathogenic (dominant) g.19019497A>G g.21439536A>G - - GREB1L_000055 possible loss exonic splice enhancer site; ACMG PM2, PP1-M, PP2, PP3 PubMed: Schrauwen 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES deafness Fam1PatI1?ii2/II3 PubMed: Schrauwen 2020 2-generation family, 3 affected (father, son, daughter) F;M - Pakistan - - - - - 3 Johan den Dunnen
-?/. - c.855C>T r.(?) p.(Ser285=) Unknown - likely benign g.19019504C>T - GREB1L(NM_001142966.2):c.855C>T (p.S285=) - GREB1L_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919C>G r.(?) p.(Pro307Ala) Unknown - VUS g.19019568C>G - - - GREB1L_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.982C>T r.(?) p.(Arg328Ter) Unknown - pathogenic (dominant) g.19020262C>T g.21440301C>T - - GREB1L_000054 - PubMed: Schrauwen 2018 SCV000611708 - De novo - - - - - DNA SEQ, SEQ-NG - WES deafness Pat2 PubMed: Schrauwen 2018 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.983G>A r.(?) p.(Arg328Gln) Maternal (confirmed) - pathogenic g.19020263G>A g.21440302G>A - - GREB1L_000024 - PubMed: de Tomasi 2017 - - Germline yes - - - - DNA SEQ - - CAKUT 29100091-Fam14 PubMed: de Tomasi 2017 2-generation family, 2 affecteds (F, M), unaffected carrier sib F;M - France - - - - - 2 Johan den Dunnen
?/. - c.988C>G r.(?) p.(Arg330Gly) Unknown - VUS g.19020268C>G - GREB1L(NM_001142966.1):c.988C>G (p.(Arg330Gly)) - GREB1L_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1208-3C>A r.spl? p.? Unknown - VUS g.19024182C>A - GREB1L(NM_001142966.3):c.1208-3C>A - GREB1L_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278C>G r.(?) p.(Cys426Trp) Unknown - likely benign g.19024255C>G - GREB1L(NM_001142966.3):c.1278C>G (p.(Cys426Trp)) - GREB1L_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1370C>T r.(?) p.(Thr457Met) Unknown - VUS g.19024347C>T - GREB1L(NM_001142966.3):c.1370C>T (p.(Thr457Met)) - GREB1L_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1394-6A>G r.(=) p.(=) Unknown - benign g.19029465A>G - GREB1L(NM_001142966.2):c.1394-6A>G - GREB1L_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1513G>A r.(?) p.(Gly505Arg) Unknown - VUS g.19029590G>A - GREB1L(NM_001142966.1):c.1513G>A (p.(Gly505Arg)) - GREB1L_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1582del r.(?) p.(Gln528Argfs*12) Maternal (confirmed) - pathogenic g.19029659del g.21449698del 1582delC - GREB1L_000011 - PubMed: de Tomasi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CAKUT 29100091-Fam1 PubMed: de Tomasi 2017 2-generation family, 3 affecteds (F, 2M), unaffected carrier mother F;M - France - - - - - 3 Johan den Dunnen
?/. - c.1595C>T r.(?) p.(Ala532Val) Unknown - VUS g.19029672C>T - - - GREB1L_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1678G>A r.(?) p.(Ala560Thr) Unknown - VUS g.19029755G>A - GREB1L(NM_001142966.2):c.1678G>A (p.A560T) - GREB1L_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1678G>A r.(?) p.(Ala560Thr) Unknown - likely benign g.19029755G>A - GREB1L(NM_001142966.2):c.1678G>A (p.A560T) - GREB1L_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1721-12T>C r.(=) p.(=) Unknown - likely benign g.19030972T>C - GREB1L(NM_001142966.2):c.1721-12T>C - GREB1L_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1780G>T r.(?) p.(Glu594*) Maternal (confirmed) - pathogenic g.19031043G>T g.21451082G>T - - GREB1L_000012 - PubMed: de Tomasi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CAKUT 29100091-Fam2 PubMed: de Tomasi 2017 2-generation family, 4 affecteds (3F, M) F;M - France - - - - - 4 Johan den Dunnen
+/. - c.1813A>C r.(?) p.(Ser605Arg) Paternal (confirmed) - pathogenic g.19031076A>C g.21451115A>C - - GREB1L_000025 - PubMed: de Tomasi 2017 - - Germline - - - - - DNA SEQ - - CAKUT 29100091-Fam15 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier father F - France - - - - - 1 Johan den Dunnen
+/. - c.1852G>A r.(?) p.(Asp618Asn) Unknown ACMG VUS g.19032046G>A g.21452085G>A - - GREB1L_000057 - PubMed: Jacquinet 20209 - - Germline/De novo (untested) - - - - - DNA MIPsm, SEQ - - ? U113 PubMed: Jacquinet 20209 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1852_1863del r.(?) p.(Asp618_Asp621del) Unknown - benign g.19032046_19032057del - GREB1L(NM_001142966.2):c.1852_1863delGATGACCTAGAC (p.D618_D621del) - GREB1L_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1906G>C r.(?) p.(Val636Leu) Unknown - likely benign g.19032100G>C - GREB1L(NM_001142966.1):c.1906G>C (p.(Val636Leu)) - GREB1L_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1936T>C r.(?) p.(Cys646Arg) Unknown ACMG VUS g.19032130T>C g.21452169T>C - - GREB1L_000058 - PubMed: Jacquinet 20209 - - Germline/De novo (untested) - - - - - DNA MIPsm, SEQ - - ? U098 PubMed: Jacquinet 20209 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1985-6T>G r.(=) p.(=) Unknown - VUS g.19034321T>G - GREB1L(NM_001142966.2):c.1985-6T>G - GREB1L_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2148G>T r.(?) p.(Leu716Phe) Unknown - pathogenic g.19034490G>T g.21454529G>T - - GREB1L_000026 - PubMed: de Tomasi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CAKUT 29100091-Fam16 PubMed: de Tomasi 2017 2-generation family, 1 affected M - France - - - - - 1 Johan den Dunnen
-?/. i c.2182+6956A>C r.(=) p.(=) Parent #1 - likely benign g.19041480A>C g.21461519A>C - - GREB1L_000001 - PubMed: Jang 2015, Journal: Jang 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Jang 2015, Journal: Jang 2015 4-generation family, 8 affecteds (5F, 3M) - - Korea - - - - - 8 Johan den Dunnen
+/. - c.2227del r.(?) p.(Gln743ArgfsTer10) Maternal (confirmed) ACMG pathogenic g.19053036del g.21473075del - - GREB1L_000059 - PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6PatIV1 PubMed: Jacquinet 20209 4-generation family, 3 affected (3F), fetus daughter (unaffected carrier mother) F - - - <0d - - - 3 Johan den Dunnen
+/. - c.2227del r.(?) p.(Gln743ArgfsTer10) Maternal (inferred) ACMG pathogenic g.19053036del g.21473075del - - GREB1L_000059 - PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6PatIII5 PubMed: Jacquinet 20209 relative F - - - - - - - 1 Johan den Dunnen
+/. - c.2227del r.(?) p.(Gln743ArgfsTer10) Maternal (inferred) ACMG pathogenic g.19053036del g.21473075del - - GREB1L_000059 - PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam6PatIII4 PubMed: Jacquinet 20209 aunt F - - - - - - - 1 Johan den Dunnen
+/. - c.2251C>T r.(?) p.(Arg751Cys) Maternal (confirmed) - pathogenic g.19053060C>T g.21473099C>T - - GREB1L_000018 - PubMed: de Tomasi 2017 - - Germline yes - - - - DNA SEQ - - CAKUT 29100091-Fam8 PubMed: de Tomasi 2017 2-generation family, 3 affecteds - - France - - - - - 3 Johan den Dunnen
+/. - c.2252G>A r.(?) p.(Arg751His) Maternal (confirmed) - pathogenic g.19053061G>A g.21473100G>A - - GREB1L_000023 - PubMed: de Tomasi 2017 - - Germline - - - - - DNA SEQ - - CAKUT 29100091-Fam13 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier mother M - France - - - - - 1 Johan den Dunnen
+/. 16 c.2281G>C r.(?) p.(Glu761Gln) Paternal (confirmed) - pathogenic g.19053090G>C g.21473129G>C - - GREB1L_000004 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT 29100090-FamDC10 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2312C>T r.(?) p.(Pro771Leu) Paternal (confirmed) ACMG VUS (!) g.19053121C>T g.21473160C>T - - GREB1L_000060 father asymptomatic PubMed: Jacquinet 20209 - - Germline - - - - - DNA MIPsm, SEQ - - ? U042 PubMed: Jacquinet 20209 fetus, unaffected heterozygous carrier father - - - - - - - - 1 Johan den Dunnen
+/. - c.2333T>A r.(?) p.(Val778Asp) Paternal (confirmed) - pathogenic (dominant) g.19053142T>A - - - GREB1L_000030 - PubMed: Wang 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES RHDA family 3-generation family, 4 affected (F, 2M, fetus) - F;M - China - - - - - 1 Johan den Dunnen
-?/. - c.2383T>C r.(?) p.(Ser795Pro) Unknown - likely benign g.19057144T>C - GREB1L(NM_001142966.3):c.2383T>C (p.S795P) - GREB1L_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2488_2489insT r.(?) p.(Thr830Ilefs*10) Unknown - pathogenic g.19057249_19057250insT - GREB1L(NM_001142966.2):c.2488_2489insT (p.T830Ifs*10) - GREB1L_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2494C>T r.(?) p.(Gln832*) Unknown - VUS g.19057255C>T - - - GREB1L_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2690+8G>A r.(=) p.(=) Unknown - likely benign g.19065722G>A - GREB1L(NM_001142966.2):c.2690+8G>A - GREB1L_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2787_2788del r.(?) p.(Asp930ProfsTer12) Maternal (confirmed) ACMG pathogenic (!) g.19070069_19070070del g.21490108_21490109del - - GREB1L_000061 reduced penetrance PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5PatIV1 PubMed: Jacquinet 20209 4-generation family, 5 affected (2F, 3M), fetus son M - - - <0d - - - 5 Johan den Dunnen
+/. - c.2787_2788del r.(?) p.(Asp930ProfsTer12) Paternal (confirmed) ACMG pathogenic (!) g.19070069_19070070del g.21490108_21490109del - - GREB1L_000061 reduced penetrance PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5PatIII2 PubMed: Jacquinet 20209 mother F - - - - - - - 1 Johan den Dunnen
+/. - c.2787_2788del r.(?) p.(Asp930ProfsTer12) Unknown ACMG pathogenic (!) g.19070069_19070070del g.21490108_21490109del - - GREB1L_000061 reduced penetrance PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam5PatII1 PubMed: Jacquinet 20209 grandfather M - - - - - - - 1 Johan den Dunnen
+/. - c.2787_2788del r.(?) p.(Asp930ProfsTer12) Maternal (inferred) ACMG pathogenic (!) g.19070069_19070070del g.21490108_21490109del - - GREB1L_000061 asymptomatic PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES Healthy/Control Fam5PatIII5 PubMed: Jacquinet 20209 asymptomatic relative F - - - - - - - 1 Johan den Dunnen
-?/. - c.2799A>G r.(?) p.(Thr933=) Unknown - likely benign g.19070081A>G - GREB1L(NM_001142966.2):c.2799A>G (p.T933=) - GREB1L_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2799A>G r.(?) p.(Thr933=) Unknown - likely benign g.19070081A>G - GREB1L(NM_001142966.2):c.2799A>G (p.T933=) - GREB1L_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2926C>T r.(?) p.(Gln976*) Maternal (confirmed) - pathogenic g.19070208C>T g.21490247C>T - - GREB1L_000013 - PubMed: de Tomasi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CAKUT 29100091-Fam3 PubMed: de Tomasi 2017 2-generation family, 4 affecteds (F, 3M) F;M - France - - - - - 4 Johan den Dunnen
+/. - c.3041G>A r.(?) p.(Gly1014Glu) Unknown ACMG pathogenic (dominant) g.19075641G>A g.21495680G>A - - GREB1L_000052 father not analysed PubMed: Adadey 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I Blood - DFNA FamPatIII8 PubMed: Adadey 2022 3-generation family, 1 affected (1M), 15 unaffected (8F, 7M), three individuals screened (proband, mother, brother) M no Ghana Africa - - - - 1 Yacouba Dia
-?/. - c.3146+5A>G r.spl? p.? Unknown - likely benign g.19075751A>G - GREB1L(NM_001142966.3):c.3146+5A>G - GREB1L_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21 c.3197G>C r.(?) p.(Arg1066Pro) Unknown - pathogenic g.19076465G>C g.21496504G>C - - GREB1L_000005 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT FamDC11 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - - - - 1 Paula Rozenfeld
?/. - c.3256C>T r.(?) p.(Arg1086Trp) Unknown - VUS g.19076524C>T - GREB1L(NM_001142966.1):c.3256C>T (p.(Arg1086Trp)) - GREB1L_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3271_3278del r.(?) p.(Ala1091Profs*13) Unknown - pathogenic g.19076539_19076546del - - - GREB1L_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3323A>G r.(?) p.(Asp1108Gly) Unknown - VUS g.19076591A>G - GREB1L(NM_001142966.2):c.3323A>G (p.D1108G) - GREB1L_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3328G>A r.(?) p.(Asp1110Asn) Unknown - likely benign g.19076596G>A - GREB1L(NM_001142966.2):c.3328G>A (p.D1110N) - GREB1L_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3492G>T r.spl? p.? Unknown ACMG VUS g.19079790G>T g.21499829G>T - - GREB1L_000062 - PubMed: Jacquinet 20209 - - Germline/De novo (untested) - - - - - DNA MIPsm, SEQ - - ? U147 PubMed: Jacquinet 20209 - - - - - - - - - 1 Johan den Dunnen
-/. - c.3555A>G r.(?) p.(Glu1185=) Unknown - benign g.19079853A>G g.21499892A>G GREB1L(NM_001142966.2):c.3555A>G (p.E1185=) - GREB1L_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3578T>C r.(?) p.(Met1193Thr) Unknown - likely benign g.19079876T>C - GREB1L(NM_001142966.1):c.3578T>C (p.(Met1193Thr)) - GREB1L_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3702A>G r.(?) p.(Leu1234=) Unknown - likely benign g.19080000A>G - GREB1L(NM_001142966.2):c.3702A>G (p.L1234=) - GREB1L_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3784G>A r.(?) p.(Val1262Met) Unknown - VUS g.19080082G>A - GREB1L(NM_001142966.2):c.3784G>A (p.V1262M) - GREB1L_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3970-20A>G r.[3969_3970ins3970-19_3970-1,?] p.[Val1324Leufs*34,?] Paternal (confirmed) ACMG likely pathogenic (!) g.19080481A>G g.21500520A>G - - GREB1L_000063 reduced penetrance PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9PatIII1 PubMed: Jacquinet 20209 3-generation family, 2 affected fetus sisters F - - - <0d - - - 3 Johan den Dunnen
+/. - c.3970-20A>G r.[3969_3970ins3970-19_3970-1,?] p.[Val1324Leufs*34,?] Paternal (confirmed) ACMG likely pathogenic (!) g.19080481A>G g.21500520A>G - - GREB1L_000063 reduced penetrance PubMed: Jacquinet 20209 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Fam9PatIII2 PubMed: Jacquinet 20209 fetus sister F - - - <0d - - - 1 Johan den Dunnen
+/. - c.3970-20A>G r.[3969_3970ins3970-19_3970-1,?] p.[Val1324Leufs*34,?] Parent #1 ACMG likely pathogenic (!) g.19080481A>G g.21500520A>G - - GREB1L_000063 asymptomatic PubMed: Jacquinet 20209 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES Healthy/Control Fam9PatII2 PubMed: Jacquinet 20209 father M - - - - - - - 1 Johan den Dunnen
+/. - c.3983G>A r.(?) p.(Gly1328Asp) Unknown ACMG VUS g.19080514G>A g.21500553G>A - - GREB1L_000064 - PubMed: Jacquinet 20209 - - Germline/De novo (untested) - - - - - DNA MIPsm, SEQ - - ? U125 PubMed: Jacquinet 20209 - - - - - - - - - 1 Johan den Dunnen
+/. 23 c.4000dup r.(?) p.(Leu1334Profs*18) Maternal (confirmed) - pathogenic g.19080531dup g.21500570dup 3998_3999insC - GREB1L_000006 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT FamDC12 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 affected mother F - - - - - - - 1 Paula Rozenfeld
-?/. - c.4030C>A r.(?) p.(Leu1344Ile) Unknown - likely benign g.19080561C>A - GREB1L(NM_001142966.2):c.4030C>A (p.L1344I) - GREB1L_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4200T>C r.(?) p.(=) Unknown - likely benign g.19085500T>C - GREB1L(NM_001142966.2):c.4200T>C (p.Y1400=) - GREB1L_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4228+1G>C r.spl? p.? Unknown - likely pathogenic g.19085529G>C - GREB1L(NM_001142966.2):c.4228+1G>C, GREB1L(NM_001142966.3):c.4228+1G>C - GREB1L_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4228+1G>C r.spl? p.? Unknown - likely pathogenic g.19085529G>C - GREB1L(NM_001142966.2):c.4228+1G>C, GREB1L(NM_001142966.3):c.4228+1G>C - GREB1L_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4268G>A r.(?) p.(Arg1423Gln) Unknown - likely pathogenic g.19085810G>A - - - GREB1L_000037 - - - rs1027409544 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4268G>C r.(?) p.(Arg1423Pro) Unknown - VUS g.19085810G>C - GREB1L(NM_001142966.3):c.4268G>C (p.(Arg1423Pro)) - GREB1L_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4276G>A r.(?) p.(Val1426Ile) Unknown - likely benign g.19085818G>A - GREB1L(NM_001142966.1):c.4276G>A (p.(Val1426Ile)) - GREB1L_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4368G>T r.spl p.? Unknown - pathogenic (dominant) g.19085910G>T g.21505949G>T - - GREB1L_000053 predicted to affect splicing PubMed: Schrauwen 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES deafness Pat1 PubMed: Schrauwen 2018 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.4369-9C>G r.(=) p.(=) Unknown - likely benign g.19088070C>G - GREB1L(NM_001142966.3):c.4369-9C>G - GREB1L_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4369-1G>C r.spl p.? Maternal (confirmed) - pathogenic g.19088078G>C g.21508117G>C - - GREB1L_000014 - PubMed: de Tomasi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CAKUT 29100091-Fam4 PubMed: de Tomasi 2017 2-generation family, 2 affecteds (F, M), unaffected carrier mother F;M - France - - - - - 2 Johan den Dunnen
+/. - c.4505T>C r.(?) p.(Met1502Thr) Maternal (confirmed) - pathogenic g.19088215T>C g.21508254T>C - - GREB1L_000016 - PubMed: de Tomasi 2017 - - Germline - - - - - DNA SEQ - - CAKUT 29100091-Fam6 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier mother M - France - - - - - 1 Johan den Dunnen
+/. - c.4526A>T r.(?) p.(Asp1509Val) Unknown - pathogenic g.19088236A>T g.21508275A>T - - GREB1L_000021 - PubMed: de Tomasi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CAKUT 29100091-Fam11 PubMed: de Tomasi 2017 2-generation family, 1 affected M - France - - - - - 1 Johan den Dunnen
+/. - c.4607A>G r.(?) p.(His1536Arg) Unknown - pathogenic g.19088424A>G g.21508463A>G - - GREB1L_000015 de novo in mother PubMed: de Tomasi 2017 - - De novo - - - - - DNA SEQ - - CAKUT 29100091-Fam5 PubMed: de Tomasi 2017 2-generation family, 3 affecteds (2F, M) F;M - France - - - - - 3 Johan den Dunnen
+/. - c.4672C>A r.(?) p.(Arg1558Ser) Maternal (confirmed) - pathogenic g.19088489C>A g.21508528C>A - - GREB1L_000017 - PubMed: de Tomasi 2017 - - Germline - - - - - DNA SEQ - - CAKUT 29100091-Fam7 PubMed: de Tomasi 2017 2-generation family, 1 affected, unaffected carrier mother F - France - - - - - 1 Johan den Dunnen
+/. 27 c.4680C>A r.(?) p.(Tyr1560*) Maternal (confirmed) - pathogenic g.19088497C>A g.21508536C>A - - GREB1L_000007 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT FamDC13 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 affected sister (VUR), mother (uterus anomaly) M - - - - - - - 1 Paula Rozenfeld
+/. 27 c.4700T>C r.(?) p.(Leu1567Pro) Unknown - pathogenic g.19088517T>C g.21508556T>C - - GREB1L_000008 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - De novo - - - - - DNA SEQ - WES CAKUT FamDC14 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - F - - - - - - - 1 Paula Rozenfeld
-?/. - c.4711G>A r.(?) p.(Gly1571Ser) Unknown - likely benign g.19088528G>A - GREB1L(NM_001142966.2):c.4711G>A (p.G1571S) - GREB1L_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4727C>T r.(?) p.(Ala1576Val) Unknown - pathogenic g.19088544C>T g.21508583C>T - - GREB1L_000020 - PubMed: de Tomasi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CAKUT 29100091-Fam10 PubMed: de Tomasi 2017 2-generation family, 1 affected M - France - - - - - 1 Johan den Dunnen
+?/. - c.4751T>C r.(?) p.(Leu1584Pro) Unknown - likely pathogenic g.19093797T>C - - - GREB1L_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 28 c.4796G>A r.? p.(Arg1599His) Paternal (confirmed) ACMG pathogenic g.19093842G>A g.21513881G>A - - GREB1L_000087 segregates with phenotype, observed in multiple affected individuals in single family with variable renal abnormalities - ClinVar-4086073 - Germline yes - - - - DNA SEQ-NG-I peripheral blood WES renal failure - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
-?/. - c.4840A>G r.(?) p.(Ile1614Val) Unknown - likely benign g.19093886A>G - GREB1L(NM_001142966.1):c.4840A>G (p.(Ile1614Val)) - GREB1L_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4843G>A r.(?) p.(Val1615Ile) Unknown - VUS g.19093889G>A - GREB1L(NM_001142966.1):c.4843G>A (p.(Val1615Ile)) - GREB1L_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29 c.4991A>G r.(?) p.(Tyr1664Cys) Unknown - pathogenic g.19095467A>G g.21515506A>G 4991A>C (Tyr1664Cys) - GREB1L_000009 variant DNA/protein did not match PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT FamDC15 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - M - - - - - - - 1 Paula Rozenfeld
+/. 29 c.5068G>A r.(?) p.(Val1690Met) Maternal (confirmed) - pathogenic g.19095544G>A g.21515583G>A - - GREB1L_000010 - PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - Germline - - - - - DNA SEQ - WES CAKUT FamDC16 PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 affected sister (VUR), fatehr (?) F - - - - - - - 1 Paula Rozenfeld
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