Full data view for gene GHR

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the NM_000163.4 transcript reference sequence.

222 entries on 3 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     
+/. 2i c.[71-?_136+?; 267-?_618+?] r.? p.? Parent #1 - pathogenic g.? - non-consecutive deletion exons 2,3 and 5 - GHR_000003 - PubMed: Godowski 1989, OMIM:var0001 - - Germline - - - - - DNA Southern - - Laron - PubMed: Godowski 1989 - M yes (United States) Jewish;Iraq - - - - 1 Johan den Dunnen
+/. 2i c.[71-?_136+?; 267-?_618+?] r.? p.? Parent #1 - pathogenic g.? - non-consecutive deletion exons 2,3 and 5 - GHR_000003 - PubMed: Godowski 1989, OMIM:var0001 - - Germline - - - - - DNA Southern - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - PubMed: Godowski 1989 - F yes United States Jewish;Iraq - - - - 1 Johan den Dunnen
+/. 2i c.[71-?_136+?; 267-?_618+?] r.? p.? Parent #2 - pathogenic g.? - non-consecutive deletion exons 2,3 and 5 - GHR_000003 - PubMed: Godowski 1989, OMIM:var0001 - - Germline - - - - - DNA Southern - - Laron - PubMed: Godowski 1989 - M yes (United States) Jewish;Iraq - - - - 1 Johan den Dunnen
+/. 2i c.[71-?_136+?; 267-?_618+?] r.? p.? Parent #2 - pathogenic g.? - non-consecutive deletion exons 2,3 and 5 - GHR_000003 - PubMed: Godowski 1989, OMIM:var0001 - - Germline - - - - - DNA Southern - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - PubMed: Godowski 1989 - F yes United States Jewish;Iraq - - - - 1 Johan den Dunnen
-?/. - c.-12+646A>T r.(=) p.(=) Unknown - likely benign g.42424703A>T - GHR(NM_000163.4):c.-12+646A>T (p.(=)) - GHR_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12+648G>A r.(=) p.(=) Unknown - likely benign g.42424705G>A - GHR(NM_000163.4):c.-12+648G>A - GHR_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12+662G>A r.(=) p.(=) Unknown - likely benign g.42424719G>A - GHR(NM_000163.4):c.-12+662G>A (p.(=)) - GHR_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12+1088C>G r.(=) p.(=) Unknown - likely benign g.42425145C>G - GHR(NM_000163.4):c.-12+1088C>G (p.(=)) - GHR_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11-1G>C r.spl? p.? Unknown - VUS g.42565965G>C - GHR(NM_000163.4):c.-11-1G>C (p.(=)) - GHR_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10T>C r.(?) p.(=) Unknown - VUS g.42565967T>C - GHR(NM_000163.4):c.-10T>C (p.(=)) - GHR_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8C>G r.(?) p.(=) Unknown - likely benign g.42565969C>G - GHR(NM_000163.4):c.-8C>G (p.(=)) - GHR_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5A>T r.(?) p.(Asp2Val) Unknown - VUS g.42565981A>T - GHR(NM_000163.4):c.5A>T (p.(Asp2Val)) - GHR_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.21G>A r.(?) p.(Leu7=) Unknown - likely benign g.42565997G>A - GHR(NM_000163.4):c.21G>A (p.(=)) - GHR_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25A>T r.(?) p.(Thr9Ser) Unknown - VUS g.42566001A>T - GHR(NM_000163.4):c.25A>T (p.(Thr9Ser)) - GHR_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42A>G r.(?) p.(=) Unknown - likely benign g.42566018A>G - GHR(NM_000163.4):c.42A>G (p.(Gly14=)) - GHR_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.70+1G>A r.spl? p.del? Paternal (inferred) - pathogenic g.42566047G>A g.42565945G>A - - GHR_000001 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. 2i c.70+1G>A r.spl? p.del? Paternal (inferred) - pathogenic g.42566047G>A g.42565945G>A - - GHR_000001 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. 2i c.70+1G>A r.spl? p.del? Maternal (inferred) - pathogenic g.42566047G>A g.42565945G>A - - GHR_000001 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. 2i c.70+1G>A r.spl? p.del? Maternal (inferred) - pathogenic g.42566047G>A g.42565945G>A - - GHR_000001 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.99C>G r.(?) p.(=) Unknown - benign g.42629168C>G - GHR(NM_000163.4):c.99C>G (p.(Pro33=)) - GHR_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.102G>A r.(?) p.(Trp34*) Maternal (confirmed) - likely benign g.42629171G>A g.42629069G>A c.W16X - GHR_000002 - PubMed: Pantel 2003 - - Germline - - HinfI- - - RNA, DNA PCRdig, PCRm, SEQ - - Laron - PubMed: Pantel 2003 - M no Germany - - - - - 1 Johan den Dunnen
-/. - c.136+17243T>A r.(=) p.(=) Unknown - benign g.42646448T>A g.42646346T>A GHR(NM_001242400.2):c.136+17243T>A - GHR_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.137A>T r.(?) p.(Asn46Ile) Unknown - VUS g.42688992A>T - GHR(NM_001242400.2):c.137A>T (p.N46I) - GHR_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.138C>A r.(?) p.(Cys56*) Paternal (confirmed) - likely benign g.42688993C>A g.42688891C>A c.C38X - GHR_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Pantel 2003 - - Germline - - MaeIII+ - - RNA, DNA PCRdig, PCRm, SEQ - - Laron - PubMed: Pantel 2003 - M no Germany - - - - - 1 Johan den Dunnen
-?/. - c.150G>A r.(?) p.(Glu50=) Unknown - likely benign g.42689005G>A - GHR(NM_000163.4):c.150G>A (p.(=)) - GHR_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151C>G r.(?) p.(Pro51Ala) Unknown ACMG VUS g.42689006C>G g.42688904C>G - - GHR_000090 ACMG: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. 4 c.162del r.(?) p.(Lys55SerfsTer25) Paternal (inferred) - pathogenic g.42689017del g.42688915del - - GHR_000005 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - no Slovenia - - - - - 1 Johan den Dunnen
+/. 4 c.162del r.(?) p.(Lys55SerfsTer25) Maternal (inferred) - pathogenic g.42689017del g.42688915del - - GHR_000005 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - no Slovenia - - - - - 1 Johan den Dunnen
+/. 4 c.166T>A r.(?) p.(Cys56Ser) Paternal (inferred) - pathogenic g.42689021T>A g.42688919T>A C38S - GHR_000006 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - - Algeria - - - - - 1 Johan den Dunnen
+/. 4 c.166T>A r.(?) p.(Cys56Ser) Maternal (inferred) - pathogenic g.42689021T>A g.42688919T>A C38S - GHR_000006 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - - Algeria - - - - - 1 Johan den Dunnen
+/. 4 c.168C>A r.(?) p.(Cys56*) Parent #1 - pathogenic g.42689023C>A g.42688921C>A C38X - GHR_000007 - PubMed: Amselem 1991, OMIM:var0004 - - Germline - - - - - DNA SEQ, Southern - - Laron - PubMed: Amselem 1991 - M yes - - - - - - 1 Johan den Dunnen
+/. 4 c.168C>A r.(?) p.(Cys56*) Parent #2 - pathogenic g.42689023C>A g.42688921C>A C38X - GHR_000007 - PubMed: Amselem 1991, OMIM:var0004 - - Germline - - - - - DNA SEQ, Southern - - Laron - PubMed: Amselem 1991 - M yes - - - - - - 1 Johan den Dunnen
+/. - c.168C>A r.(?) p.(Cys56*) Unknown - pathogenic g.42689023C>A - GHR(NM_000163.4):c.168C>A (p.(Cys56*)) - GHR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169C>T r.(?) p.(Arg57Cys) Unknown - VUS g.42689024C>T - GHR(NM_000163.4):c.169C>T (p.(Arg57Cys)) - GHR_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.170G>A r.(?) p.(Arg57His) Unknown - VUS g.42689025G>A - GHR(NM_000163.4):c.170G>A (p.(Arg57His)) - GHR_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.173C>T r.(?) p.(Ser58Leu) Paternal (inferred) - pathogenic g.42689028C>T g.42688926C>T S40L - GHR_000008 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - yes Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.173C>T r.(?) p.(Ser58Leu) Maternal (inferred) - pathogenic g.42689028C>T g.42688926C>T S40L - GHR_000008 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.176C>T r.(?) p.(Pro59Leu) Unknown - VUS g.42689031C>T - GHR(NM_000163.4):c.176C>T (p.(Pro59Leu)) - GHR_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.178G>A r.(?) p.(Glu60Lys) Unknown - pathogenic g.42689033G>A g.42688931G>A Glu42Lys - GHR_000009 Reference to: Chen X (2003). PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - China - - - - - 1 Johan den Dunnen
?/. - c.178G>C r.(?) p.(Glu60Gln) Unknown - VUS g.42689033G>C - GHR(NM_000163.4):c.178G>C (p.(Glu60Gln)) - GHR_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.181C>T r.(?) p.(Arg61*) Parent #1 - pathogenic g.42689036C>T g.42688934C>T R43X - GHR_000010 recurrent variant PubMed: Amselem 1991, OMIM:var0003 - - Germline - - - - - DNA SEQ, Southern - - Laron - PubMed: Amselem 1991 - F yes - - - - - - 1 Johan den Dunnen
+/. 4 c.181C>T r.(?) p.(Arg61*) Parent #1 - pathogenic g.42689036C>T g.42688934C>T R43X - GHR_000010 recurrent variant PubMed: Amselem 1991, OMIM:var0003 - - Germline - - - - - DNA SEQ, Southern - - Laron - PubMed: Amselem 1991 - - yes - - - - - - 1 Johan den Dunnen
+/. 4 c.181C>T r.(?) p.Arg61* Paternal (inferred) - pathogenic g.42689036C>T g.42688934C>T R43X - GHR_000010 recurrent variant, different haplotype PubMed: Berg 1993, OMIM:var0003 - - Germline - - - - - DNA DGGE - - Laron - PubMed: Berg 1993 - F yes Ecuador - - - - - 1 Johan den Dunnen
+/. 4 c.181C>T r.(?) p.(Arg61*) Parent #2 - pathogenic g.42689036C>T g.42688934C>T R43X - GHR_000010 recurrent variant PubMed: Amselem 1991, OMIM:var0003 - - Germline - - - - - DNA SEQ, Southern - - Laron - PubMed: Amselem 1991 - F yes - - - - - - 1 Johan den Dunnen
+/. 4 c.181C>T r.(?) p.(Arg61*) Parent #2 - pathogenic g.42689036C>T g.42688934C>T R43X - GHR_000010 recurrent variant PubMed: Amselem 1991, OMIM:var0003 - - Germline - - - - - DNA SEQ, Southern - - Laron - PubMed: Amselem 1991 - - yes - - - - - - 1 Johan den Dunnen
+/. 4 c.181C>T r.(?) p.Arg61* Maternal (inferred) - pathogenic g.42689036C>T g.42688934C>T R43X - GHR_000010 recurrent variant, different haplotype PubMed: Berg 1993, OMIM:var0003 - - Germline - - - - - DNA DGGE - - Laron - PubMed: Berg 1993 - F yes Ecuador - - - - - 1 Johan den Dunnen
+/. 4 c.184G>A r.184g>a p.Glu62Lys Paternal (confirmed) - pathogenic g.42689039G>A g.42688937G>A Glu44Lys - GHR_000011 - PubMed: Goddard 1995, OMIM:var0006 - - Germline - - - - - RNA, DNA SEQ, SSCA - - stature, short - PubMed: Goddard 1995 - M no - - - - - not responsive to GH 1 Johan den Dunnen
+/. 4 c.184G>A r.(?) p.(Glu62Lys) Unknown - pathogenic g.42689039G>A g.42688937G>A Glu44Lys - GHR_000011 - PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - - - - - - - 1 Johan den Dunnen
?/. - c.186_187del r.(?) p.(Glu62Aspfs*9) Unknown - VUS g.42689041_42689042del - GHR(NM_000163.4):c.186_187delGA (p.(Glu62fs)) - GHR_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.192_193del r.(?) p.(fs*) Paternal (inferred) - pathogenic g.42689047_42689048del g.42688945_42688946del 46delTT - GHR_000012 - PubMed: Berg 1993 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Berg 1993 - F yes Spain Spain - - - - 1 Johan den Dunnen
+/. 4 c.192_193del r.(?) p.(fs*) Unknown - pathogenic g.42689047_42689048del g.42688945_42688946del 46delTT - GHR_000012 - PubMed: Berg 1993 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Berg 1993 - F no Spain - - - - - 1 Johan den Dunnen
+/. 4 c.192_193del r.(?) p.(fs*) Maternal (inferred) - pathogenic g.42689047_42689048del g.42688945_42688946del 46delTT - GHR_000012 - PubMed: Berg 1993 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Berg 1993 - F yes Spain Spain - - - - 1 Johan den Dunnen
+/. - c.192_193del r.(?) p.(Ser65MetfsTer6) Unknown - pathogenic g.42689047_42689048del g.42688945_42688946del GHR(NM_000163.4):c.192_193del (p.(Ser65MetfsTer6)), GHR(NM_001242400.2):c.192_193delTT (p.S65Mfs*6) - GHR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.192_193del r.(?) p.(Ser65MetfsTer6) Unknown - pathogenic g.42689047_42689048del - GHR(NM_000163.4):c.192_193del (p.(Ser65MetfsTer6)), GHR(NM_001242400.2):c.192_193delTT (p.S65Mfs*6) - GHR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.202T>C r.(?) p.(Trp68Arg) Parent #1 - pathogenic g.42689057T>C g.42688955T>C W50R - GHR_000013 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - no Germany - - - - - 1 Johan den Dunnen
+/. 4 c.206C>T r.(?) p.(Thr69Ile) Maternal (confirmed) - pathogenic g.42689061C>T g.42688959C>T T51I - GHR_000014 older brother and mother (normal height) were also heterozygous for this variant PubMed: Sakurai 2002 - - Germline - - - - - DNA PCR, SEQ - - stature, short - PubMed: Sakurai 2002 - M - Japan - - - - - 1 Johan den Dunnen
?/. - c.206C>T r.(?) p.(Thr69Ile) Unknown - VUS g.42689061C>T - GHR(NM_000163.4):c.206C>T (p.(Thr69Ile)) - GHR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239G>T r.(?) p.(Gly80Val) Unknown - likely benign g.42689094G>T - GHR(NM_000163.4):c.239G>T (p.(Gly80Val)) - GHR_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.247C>T r.(?) p.(Gln83*) Paternal (inferred) - pathogenic g.42689102C>T g.42689000C>T 197C>T Q65X - GHR_000015 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - - India - - - - - 1 Johan den Dunnen
+/. 4 c.247C>T r.(?) p.(Gln83*) Maternal (inferred) - pathogenic g.42689102C>T g.42689000C>T 197C>T Q65X - GHR_000015 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - - India - - - - - 1 Johan den Dunnen
+/. 4i c.266+1G>A r.spl? p.del? Unknown - pathogenic g.42689122G>A g.42689020G>A 71+1G>A - GHR_000017 - PubMed: Berg 1993 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Berg 1993 - F no Spain - - - - - 1 Johan den Dunnen
-?/. - c.267-3T>C r.spl? p.? Unknown - likely benign g.42695016T>C g.42694914T>C GHR(NM_000163.4):c.267-3T>C (p.?), GHR(NM_001242400.2):c.267-3T>C - GHR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267-3T>C r.spl? p.? Unknown - likely benign g.42695016T>C g.42694914T>C GHR(NM_000163.4):c.267-3T>C (p.?), GHR(NM_001242400.2):c.267-3T>C - GHR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273T>A r.(?) p.(Thr91=) Unknown - likely benign g.42695025T>A g.42694923T>A GHR(NM_000163.4):c.273T>A (p.(Thr91=)), GHR(NM_001242400.2):c.273T>A (p.T91=) - GHR_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273T>A r.(?) p.(Thr91=) Unknown - likely benign g.42695025T>A - GHR(NM_000163.4):c.273T>A (p.(Thr91=)), GHR(NM_001242400.2):c.273T>A (p.T91=) - GHR_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.293G>A r.(?) p.(Trp98*) Parent #2 - pathogenic g.42695045G>A g.42694943G>A W80X - GHR_000018 - PubMed: Sobrier 1997 - - Germline - - - - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Sobrier 1997 - - no Germany - - - - - 1 Johan den Dunnen
+/. 5 c.310T>G r.(?) p.(Tyr104Asp) Unknown - pathogenic g.42695062T>G g.42694960T>G Tyr86Asp - GHR_000019 Reference to: Shevah O (2004). PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - Iran - - - - - 1 Johan den Dunnen
+/. 5 c.335G>C r.(?) p.(Cys112Ser) Paternal (inferred) - pathogenic g.42695087G>C g.42694985G>C Cys94Ser - GHR_000020 de novo, in patient (paternal allele) PubMed: Fang 2007 - - De novo - - - - - RNA, DNA PCRdig, SEQ, Western - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - PubMed: Fang 2007 {FILE17405847fam.jpg:pedigree} F - Austria white - - - - 1 Johan den Dunnen
+/. 5 c.335G>C r.(?) p.(Cys112Ser) Paternal (inferred) - pathogenic g.42695087G>C g.42694985G>C Cys94Ser - GHR_000020 de novo, in patient (paternal allele) PubMed: Fang 2007 - - De novo - - - - - RNA, DNA PCRdig, SEQ, Western - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - PubMed: Fang 2007 father and sister-2 heterozygous for C94S. mother and sister-1 heterozygous for H150Q. F - Austria white - - - - 1 Johan den Dunnen
+?/. 5 c.336T>C r.(?) p.(=) Parent #1 - likely pathogenic g.42695088T>C g.42694986T>C T>C C94C - GHR_000021 not in 100 control chromosomes PubMed: Bonioli 2005 - - Germline - 1/74 - - - DNA PCR, SEQ - - stature, short - PubMed: Bonioli 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 5 c.338dup r.(?) p.(Tyr113*) Paternal (inferred) - pathogenic g.42695090dup g.42694988dup - - GHR_000070 not in 100 control chromosomes PubMed: Diniz 2008 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Diniz 2008 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 5 c.338dup r.(?) p.(Tyr113*) Maternal (inferred) - pathogenic g.42695090dup g.42694988dup - - GHR_000070 not in 100 control chromosomes PubMed: Diniz 2008 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Diniz 2008 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 5 c.341T>C r.(?) p.(Phe114Ser) Unknown - pathogenic g.42695093T>C g.42694991T>C Phe96Ser - GHR_000022 Reference to: Amselem S (1989). PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - - Mediterranean - - - - 1 Johan den Dunnen
+/. - c.344A>C r.(?) p.(Asn115Thr) Unknown - pathogenic g.42695096A>C - GHR(NM_000163.4):c.344A>C (p.(Asn115Thr)) - GHR_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.347C>A r.(?) p.(Ser116*) Unknown - pathogenic g.42695099C>A g.42694997C>A Cys83X - GHR_000023 Reference to: Tiulpakov A (2005) PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - - - - - - - 1 Johan den Dunnen
?/. - c.374A>T r.(?) p.(Tyr125Phe) Unknown - VUS g.42695126A>T - GHR(NM_000163.4):c.374A>T (p.(Tyr125Phe)) - GHR_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.406G>T r.(?) p.(Val136Leu) Unknown - likely benign g.42695158G>T - GHR(NM_000163.4):c.406G>T (p.(Val136Leu)) - GHR_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409G>C r.(?) p.(Asp137His) Unknown - VUS g.42695161G>C g.42695059G>C GHR(NM_000163.4):c.409G>C (p.(Asp137His)) - GHR_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.411T>A r.(?) p.(Asp137Glu) Unknown - likely benign g.42695163T>A - GHR(NM_000163.4):c.411T>A (p.(Asp137Glu)) - GHR_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.420T>A r.420u>a p.Cys122* Maternal (confirmed) - pathogenic g.42695172T>A g.42695070T>A Cys122stop - GHR_000024 most likely a null mutation, with no functional protein being produced PubMed: Goddard 1995 - - Germline - - - - - RNA, DNA SEQ, SSCA - - ? - PubMed: Goddard 1995 patient inherited variant from mother, but was more severely affected suggesting he inherited an as yes undefined variant from his father M no - - - - - - 1 Johan den Dunnen
-?/. - c.439+9C>T r.(=) p.(=) Unknown - likely benign g.42695200C>T - GHR(NM_000163.4):c.439+9C>T (p.(=)) - GHR_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.446C>A r.(?) p.Pro149Gln Paternal (inferred) - pathogenic g.42699932C>A g.42699830C>A P131Q - GHR_000027 parents and 3 siblings (2 girls and a boy) heterozygous for this variant PubMed: Walker 1998 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Walker 1998 - F no Viet Nam - - - - - 1 Johan den Dunnen
+/. 6 c.446C>A r.(?) p.Pro149Gln Maternal (inferred) - pathogenic g.42699932C>A g.42699830C>A P131Q - GHR_000027 parents and 3 siblings (2 girls and a boy) heterozygous for this variant PubMed: Walker 1998 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Walker 1998 - F no Viet Nam - - - - - 1 Johan den Dunnen
+/. 6 c.476T>A r.(?) p.(Leu159*) Unknown - pathogenic g.42699962T>A g.42699860T>A Leu141X - GHR_000028 Reference to: Shevah O (2003). PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.484G>A r.(?) p.(Val144Ile) Maternal (confirmed) - pathogenic g.42699970G>A g.42699868G>A A>G V144I - GHR_000029 variant also in patient's younger brother and mother (also determined heterozygous (A/G) for the previously reported polymorphism in exon 6 at pos. G168. The patient's father and older brother were homozygous (C/C) at this locus. PubMed: Sanchez 1998 - - Germline - - HSP92II+ - - DNA PCRdig, HD, SEQ, SSCA - - Laron - PubMed: Sanchez 1998 The GHBP level of the younger brother was 105pmol/L and the older brother's GHBP level was 222pmol/L. The patient, his mother and younger brother also had a heterozygous polymorphism in exon 6. M - Cuba white, Florida - - - - 1 Johan den Dunnen
-?/. - c.484G>A r.(?) p.(Val162Ile) Unknown - likely benign g.42699970G>A - GHR(NM_000163.4):c.484G>A (p.(Val162Ile)), GHR(NM_000163.5):c.484G>A (p.V162I) - GHR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484G>A r.(?) p.(Val162Ile) Unknown - likely benign g.42699970G>A - GHR(NM_000163.4):c.484G>A (p.(Val162Ile)), GHR(NM_000163.5):c.484G>A (p.V162I) - GHR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.485T>C r.(?) p.(Val162Ala) Parent #1 - likely pathogenic g.42699971T>C g.42699869T>C T>C V144A - GHR_000031 not in 100 control chromosomes PubMed: Bonioli 2005 - - Germline - 1/74 - - - DNA PCR, SEQ - - stature, short - PubMed: Bonioli 2005 - - - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.504T>G r.(?) p.(His168Gln) Maternal (inferred) - pathogenic g.42699990T>G g.42699888T>G His150Gln - GHR_000032 de novo, in patient (maternal allele) PubMed: Fang 2007 - - De novo - - - - - RNA, DNA PCRdig, SEQ, Western - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - PubMed: Fang 2007 {FILE17405847fam.jpg:pedigree} F - Austria white - - - - 1 Johan den Dunnen
+/. 6 c.504T>G r.(?) p.(His168Gln) Paternal (inferred) - pathogenic g.42699990T>G g.42699888T>G His150Gln - GHR_000032 de novo, in patient (maternal allele) PubMed: Fang 2007 - - De novo - - - - - RNA, DNA PCRdig, SEQ, Western - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - PubMed: Fang 2007 father and sister-2 heterozygous for C94S. mother and sister-1 heterozygous for H150Q. F - Austria white - - - - 1 Johan den Dunnen
?/. - c.504T>G r.(?) p.(His168Gln) Unknown - VUS g.42699990T>G - - - GHR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.508G>C r.(?) p.(Asp170His) Paternal (inferred) - pathogenic g.42699994G>C g.42699892G>C G>C D152H - GHR_000033 not in 220 control chromosomes PubMed: Wojcik 1998 - - Germline - - EcoRV- - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Wojcik 1998 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 6 c.508G>C r.(?) p.(Asp170His) Maternal (inferred) - pathogenic g.42699994G>C g.42699892G>C G>C D152H - GHR_000033 not in 220 control chromosomes PubMed: Wojcik 1998 - - Germline - - EcoRV- - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Wojcik 1998 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. 6 c.509A>G r.(?) p.(Asp170Gly) Unknown - pathogenic g.42699995A>G g.42699893A>G Asp152Gly - GHR_000034 Reference to: Yang C (2004). PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 6 c.512T>C r.(?) p.(Ile171Thr) Unknown - pathogenic g.42699998T>C g.42699896T>C T>C I153T - GHR_000035 not in 220 control chromosomes PubMed: Wojcik 1998 - - Germline - - EcoRV- - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Wojcik 1998 - F no - white - - - - 1 Johan den Dunnen
+/. 6 c.512T>C r.(?) p.(Ile171Thr) Unknown - pathogenic g.42699998T>C g.42699896T>C Ile153Thr - GHR_000035 Reference to: Wojcik J (1998). PubMed: Savage 2006 - - Germline - - - - - DNA SEQ - - Laron - PubMed: Savage 2006 - - - - white - - - - 1 Johan den Dunnen
+/. 6 c.515A>C r.(?) p.(Gln172Pro) Paternal (inferred) - pathogenic g.42700001A>C g.42699899A>C A>C Q154P - GHR_000036 not in 220 control chromosomes PubMed: Wojcik 1998 - - Germline - - BstXI+ - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Wojcik 1998 - M no Spain Hispanic - - - - 1 Johan den Dunnen
+/. 6 c.515A>C r.(?) p.(Gln172Pro) Maternal (inferred) - pathogenic g.42700001A>C g.42699899A>C A>C Q154P - GHR_000036 not in 220 control chromosomes PubMed: Wojcik 1998 - - Germline - - BstXI+ - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Wojcik 1998 - M no Spain Hispanic - - - - 1 Johan den Dunnen
+/. 6 c.518T>G r.(?) p.(Val173Glu) Paternal (inferred) - pathogenic g.42700004T>G g.42699902T>G T>G V155G - GHR_000037 not in 220 control chromosomes PubMed: Wojcik 1998 - - Germline - - Styl+ - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Wojcik 1998 - F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 6 c.518T>G r.(?) p.(Val173Glu) Maternal (inferred) - pathogenic g.42700004T>G g.42699902T>G T>G V155G - GHR_000037 not in 220 control chromosomes PubMed: Wojcik 1998 - - Germline - - Styl+ - - DNA DGGE, PCR, SEQ - - Laron - PubMed: Wojcik 1998 - F yes Saudi Arabia - - - - - 1 Johan den Dunnen
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