All variants in the GHRHR gene

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the NM_000823.3 transcript reference sequence.

119 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. - c.-7816034_*1913175del r.0? p.0? - pathogenic g.23187650_32932034del - - - ADCYAP1R1_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. - c.8G>A r.(?) p.(Arg3His) - likely benign g.31003691G>A - GHRHR(NM_000823.3):c.8G>A (p.(Arg3His)) - GHRHR_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.10C>T r.(?) p.(Arg4Trp) - benign g.31003693C>T g.30964078C>T - - GHRHR_000022 - - - - Germline - - enzocohen - - Enzo Cohen
-?/. - c.10C>T r.(?) p.(Arg4Trp) - likely benign g.31003693C>T - GHRHR(NM_000823.3):c.10C>T (p.(Arg4Trp)) - GHRHR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.22_23insA r.(?) p.(Ala8Aspfs*22) - pathogenic g.31003705_31003706insA g.30964090_30964091insA - - GHRHR_000021 - - - - Germline - - - - - Enzo Cohen
-?/. - c.27C>T r.(?) p.(His9=) - likely benign g.31003710C>T - GHRHR(NM_000823.3):c.27C>T (p.(His9=)) - GHRHR_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.29T>G r.(?) p.(Val10Gly) - VUS g.31003712T>G g.30964097T>G GHRHR(NM_000823.3):c.29T>G (p.(Val10Gly)) - GHRHR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.29T>G r.(?) p.(Val10Gly) - VUS g.31003712T>G g.30964097T>G GHRHR(NM_000823.3):c.29T>G (p.(Val10Gly)) - GHRHR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.47C>T r.(?) p.(Pro16Leu) - benign g.31003730C>T g.30964115C>T - - GHRHR_000023 - - - - Germline - - - - - Enzo Cohen
-?/. - c.47C>T r.(?) p.(Pro16Leu) - likely benign g.31003730C>T - GHRHR(NM_000823.3):c.47C>T (p.(Pro16Leu)) - GHRHR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.53C>T r.(?) p.(Pro18Leu) - likely benign g.31003736C>T - GHRHR(NM_000823.3):c.53C>T (p.(Pro18Leu)) - GHRHR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.57+2T>G r.spl p.? - pathogenic g.31003742T>G g.30964127T>G - - GHRHR_000007 - - - - Germline - - - - - Enzo Cohen
-?/. - c.61T>C r.(?) p.(=) - likely benign g.31008452T>C - GHRHR(NM_000823.3):c.61T>C (p.(Leu21=)) - GHRHR_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.109G>A r.(?) p.(Asp37Asn) - likely benign g.31008500G>A - GHRHR(NM_000823.3):c.109G>A (p.(Asp37Asn)) - GHRHR_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.161-1G>A r.spl p.? - pathogenic g.31008677G>A g.30969062G>A - - GHRHR_000005 - - - - Germline - - - - - Enzo Cohen
+/. - c.161-1G>A r.spl? p.? - pathogenic g.31008677G>A g.30969062G>A - - GHRHR_000005 - - - - Germline - - - - - Enzo Cohen
-?/. - c.170C>T r.(?) p.(Ala57Val) - likely benign g.31008687C>T g.30969072C>T GHRHR(NM_000823.3):c.170C>T (p.A57V, p.(Ala57Val)) - GHRHR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.170C>T r.(?) p.(Ala57Val) - likely benign g.31008687C>T g.30969072C>T GHRHR(NM_000823.3):c.170C>T (p.A57V, p.(Ala57Val)) - GHRHR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.171G>A r.(?) p.(=) - likely benign g.31008688G>A - GHRHR(NM_000823.3):c.171G>A (p.(Ala57=)) - GHRHR_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.174C>A r.(?) p.(Thr58=) - likely benign g.31008691C>A - GHRHR(NM_000823.3):c.174C>A (p.(Thr58=)) - GHRHR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.190T>G r.(?) p.(Cys64Gly) - likely pathogenic g.31008707T>G - GHRHR(NM_000823.3):c.190T>G (p.(Cys64Gly)) - GHRHR_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.214G>T r.(?) p.(Glu72*) - pathogenic g.31008731G>T g.30969116G>T - - GHRHR_000003 - - - - Germline - - - - - Enzo Cohen
-?/. - c.237G>A r.(?) p.(Pro79=) - likely benign g.31008754G>A - GHRHR(NM_000823.3):c.237G>A (p.(Pro79=)) - GHRHR_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.269-3del r.spl? p.? - likely benign g.31009479del - GHRHR(NM_000823.3):c.269-3del (p.?) - GHRHR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.270G>A r.(?) p.(=) - likely benign g.31009483G>A - GHRHR(NM_000823.3):c.270G>A (p.(=)) - GHRHR_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.271dup r.(?) p.(Ala91Glyfs*13) - pathogenic g.31009484dup g.30969869dup 271dupG - GHRHR_000020 - - - - Germline - - - - - Enzo Cohen
-?/. - c.272C>T r.(?) p.(Ala91Val) - likely benign g.31009485C>T - GHRHR(NM_000823.3):c.272C>T (p.(Ala91Val)) - GHRHR_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.281G>A r.(?) p.(Arg94Gln) - pathogenic g.31009494G>A g.30969879G>A - - GHRHR_000018 - - - - Germline - - - - - Enzo Cohen
?/. - c.281G>A r.(?) p.(Arg94Gln) - VUS g.31009494G>A g.30969879G>A GHRHR(NM_000823.3):c.281G>A (p.R94Q, p.(Arg94Gln)) - GHRHR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.281G>A r.(?) p.(Arg94Gln) - likely pathogenic g.31009494G>A - GHRHR(NM_000823.3):c.281G>A (p.R94Q, p.(Arg94Gln)) - GHRHR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.310C>G r.(?) p.(Pro104Ala) - VUS g.31009523C>G - GHRHR(NM_000823.3):c.310C>G (p.(Pro104Ala)) - GHRHR_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.325C>G r.(?) p.(Pro109Ala) - likely benign g.31009538C>G - GHRHR(NM_000823.3):c.325C>G (p.(Pro109Ala)) - GHRHR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.352C>A r.(?) p.(Leu118Met) - VUS g.31009565C>A - GHRHR(NM_000823.3):c.352C>A (p.(Leu118Met)) - GHRHR_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.359C>T r.(?) p.(Ala120Val) - likely benign g.31009572C>T - GHRHR(NM_000823.3):c.359C>T (p.(Ala120Val)) - GHRHR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.363G>T r.(?) p.(Glu121Asp) - benign g.31009576G>T g.30969961G>T GHRHR(NM_000823.3):c.363G>T (p.(Glu121Asp)) - GHRHR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.366+13T>G r.(=) p.(=) - benign g.31009592T>G g.30969977T>G GHRHR(NM_000823.3):c.366+13T>G (p.(=)) - GHRHR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.376T>C r.(?) p.(Phe126Leu) - VUS g.31010743T>C - GHRHR(NM_000823.3):c.376T>C (p.(Phe126Leu)) - GHRHR_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.380C>T r.(?) p.(Ser127Phe) - VUS g.31010747C>T - GHRHR(NM_000823.3):c.380C>T (p.(Ser127Phe)) - GHRHR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.403G>A r.(?) p.(Val135Met) - likely benign g.31010770G>A - GHRHR(NM_000823.3):c.403G>A (p.(Val135Met)) - GHRHR_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.425T>C r.(?) p.(Val142Ala) - likely benign g.31010792T>C g.30971177T>C GHRHR(NM_000823.3):c.425T>C (p.(Val142Ala)) - GHRHR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.431T>A r.(?) p.(Leu144His) - pathogenic g.31010798T>A g.30971183T>A - - GHRHR_000009 - - - - Germline - - - - - Enzo Cohen
+/. - c.431T>A r.(?) p.(Leu144His) - pathogenic g.31010798T>A g.30971183T>A - - GHRHR_000009 - - - - Germline - - - - - Enzo Cohen
+/. - c.458C>A r.(?) p.(Ala153Asp) - pathogenic g.31010825C>A g.30971210C>A - - GHRHR_000017 - - - - Germline - - - - - Enzo Cohen
+/. - c.465-91_1105-119del r.(?) p.(Arg156Alafs*15) - pathogenic g.31011487_31016777del g.30971872_30977162del 465-91_1105-119del5291 - GHRHR_000016 - - - - Germline - - - - - Enzo Cohen
?/. - c.465-2A>G r.spl? p.? - VUS g.31011576A>G - GHRHR(NM_000823.3):c.465-2A>G (p.?) - GHRHR_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.481C>T r.(?) p.(Arg161Trp) - pathogenic g.31011594C>T g.30971979C>T - - GHRHR_000015 - - - - Germline - - - - - Enzo Cohen
?/. - c.482G>A r.(?) p.(Arg161Gln) - VUS g.31011595G>A - GHRHR(NM_000823.3):c.482G>A (p.(Arg161Gln)) - GHRHR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.485A>T r.(?) p.(Asn162Ile) - VUS g.31011598A>T - GHRHR(NM_000823.3):c.485A>T (p.(Asn162Ile)) - GHRHR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.489C>T r.(=) p.(Tyr163=) - likely benign g.31011602C>T g.30971987C>T - - GHRHR_000024 - PubMed: Helbig 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.489C>T r.(?) p.(Tyr163=) - likely benign g.31011602C>T g.30971987C>T GHRHR(NM_000823.3):c.489C>T (p.Y163=, p.(Tyr163=)) - GHRHR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.489C>T r.(?) p.(Tyr163=) - likely benign g.31011602C>T - GHRHR(NM_000823.3):c.489C>T (p.Y163=, p.(Tyr163=)) - GHRHR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.490G>A r.(?) p.(Val164Ile) - likely benign g.31011603G>A - GHRHR(NM_000823.3):c.490G>A (p.(Val164Ile)) - GHRHR_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.491T>C r.(?) p.(Val164Ala) - pathogenic g.31011604T>C g.30971989T>C - - GHRHR_000014 - - - - Germline - - - - - Enzo Cohen
+/. - c.507C>G r.(?) p.(Phe169Leu) - pathogenic g.31011620C>G g.30972005C>G - - GHRHR_000013 - - - - Germline - - - - - Enzo Cohen
+?/. - c.507C>G r.(?) p.(Phe169Leu) - likely pathogenic g.31011620C>G - GHRHR(NM_000823.4):c.507C>G (p.F169L) - GHRHR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.512C>G r.(?) p.(Thr171Ser) - likely benign g.31011625C>G - GHRHR(NM_000823.3):c.512C>G (p.(Thr171Ser)) - GHRHR_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.527C>T r.(?) p.(Ala176Val) - pathogenic g.31011640C>T g.30972025C>T - - GHRHR_000012 - - - - Germline - - - - - Enzo Cohen
-/. - c.564C>T r.(?) p.(His188=) - benign g.31011677C>T g.30972062C>T GHRHR(NM_000823.3):c.564C>T (p.(=)) - GHRHR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.570C>T r.(?) p.(=) - likely benign g.31011683C>T - GHRHR(NM_000823.3):c.570C>T (p.(Asp190=)) - GHRHR_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.597+7G>T r.(=) p.(=) - likely benign g.31011717G>T - GHRHR(NM_000823.3):c.597+7G>T (p.(=)) - GHRHR_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.597+14G>A r.(=) p.(=) - likely benign g.31011724G>A - GHRHR(NM_000823.3):c.597+14G>A (p.(=)) - GHRHR_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.597+153_883-273del r.(?) p.(Leu201_Val295del) - pathogenic g.31011863_31015119del g.30972248_30975504del 597+153_883-273del3257 - GHRHR_000011 - - - - Germline - - - - - Enzo Cohen
?/. - c.598-9G>A r.(=) p.(=) - VUS g.31013591G>A - GHRHR(NM_000823.3):c.598-9G>A (p.(=)) - GHRHR_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.598-7C>A r.(=) p.(=) - likely benign g.31013593C>A - GHRHR(NM_000823.3):c.598-7C>A (p.(=)) - GHRHR_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.598-5C>T r.spl? p.? - likely benign g.31013595C>T - GHRHR(NM_000823.3):c.598-5C>T (p.?) - GHRHR_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.620C>T r.(?) p.(Ala207Val) - likely benign g.31013622C>T - GHRHR(NM_000823.3):c.620C>T (p.(Ala207Val)) - GHRHR_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.621C>T r.(?) p.(=) - likely benign g.31013623C>T - GHRHR(NM_000823.3):c.621C>T (p.(Ala207=)) - GHRHR_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.660G>A r.(?) p.(Leu220=) - likely benign g.31013662G>A - GHRHR(NM_000823.3):c.660G>A (p.(Leu220=)) - GHRHR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.673G>A r.(?) p.(Val225Ile) - likely benign g.31013675G>A g.30974060G>A GHRHR(NM_000823.3):c.673G>A (p.(Val225Ile)) - GHRHR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.674_677delinsGCTGTTGGCAGAAG r.(?) p.(Val225Glyfs*165) - pathogenic g.31013676_31013679delinsGCTGTTGGCAGAAG g.30974061_30974064delinsGCTGTTGGCAGAAG - - GHRHR_000019 - - - - Germline - - - - - Enzo Cohen
-?/. - c.675C>G r.(?) p.(=) - likely benign g.31013677C>G - GHRHR(NM_000823.3):c.675C>G (p.(Val225=)) - GHRHR_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.728G>A r.(?) p.(Trp243*) - pathogenic g.31013730G>A g.30974115G>A - - GHRHR_000010 - - - - Germline - - Inserm U933 - - Enzo Cohen
-?/. - c.741C>T r.(?) p.(Leu247=) - likely benign g.31013743C>T g.30974128C>T GHRHR(NM_000823.3):c.741C>T (p.(Leu247=)) - GHRHR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.751+12G>A r.(=) p.(=) - likely benign g.31013765G>A g.30974150G>A GHRHR(NM_000823.3):c.751+12G>A (p.(=)) - GHRHR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.751+15C>T r.(=) p.(=) - VUS g.31013768C>T g.30974153C>T GHRHR(NM_000823.3):c.751+15C>T (p.(=)) - GHRHR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.751+16G>A r.(=) p.(=) - VUS g.31013769G>A - GHRHR(NM_000823.3):c.751+16G>A (p.(=)) - GHRHR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.751+16G>T r.(=) p.(=) - likely benign g.31013769G>T g.30974154G>T GHRHR(NM_000823.3):c.751+16G>T (p.(=)) - GHRHR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.751+18G>T r.(=) p.(=) - likely benign g.31013771G>T g.30974156G>T GHRHR(NM_000823.3):c.751+18G>T (p.(=)) - GHRHR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.776C>A r.(?) p.(Thr259Lys) - pathogenic g.31014068C>A g.30974453C>A - - GHRHR_000008 - - - - Germline - - - - - Enzo Cohen
-?/. - c.777G>A r.(?) p.(Thr259=) - likely benign g.31014069G>A g.30974454G>A GHRHR(NM_000823.3):c.777G>A (p.(=)) - GHRHR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.801C>T r.(?) p.(=) - likely benign g.31014093C>T - GHRHR(NM_000823.3):c.801C>T (p.(=)) - GHRHR_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.826G>A r.(?) p.(Asp276Asn) - likely benign g.31014599G>A - GHRHR(NM_000823.3):c.826G>A (p.(Asp276Asn)) - GHRHR_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.828C>T r.(?) p.(Asp276=) - likely benign g.31014601C>T - GHRHR(NM_000823.3):c.828C>T (p.(=)) - GHRHR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.847T>C r.(?) p.(Trp283Arg) - pathogenic g.31014620T>C g.30975005T>C - - GHRHR_000004 - - - - Germline - - - - - Enzo Cohen
?/. - c.862C>T r.(?) p.(Pro288Ser) - VUS g.31014635C>T - GHRHR(NM_000823.3):c.862C>T (p.(Pro288Ser)) - GHRHR_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.875C>T r.(?) p.(Ser292Leu) - VUS g.31014648C>T - GHRHR(NM_000823.3):c.875C>T (p.(Ser292Leu)) - GHRHR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.876G>A r.(?) p.(Ser292=) - VUS g.31014649G>A - GHRHR(NM_000823.3):c.876G>A (p.(Ser292=)) - GHRHR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.880G>A r.(?) p.(Gly294Arg) - VUS g.31014653G>A - GHRHR(NM_000823.3):c.880G>A (p.(Gly294Arg)) - GHRHR_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.882+12G>C r.(=) p.(=) - likely benign g.31014667G>C - GHRHR(NM_000823.3):c.882+12G>C (p.(=)) - GHRHR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.882+15_882+17del r.(=) p.(=) - likely benign g.31014670_31014672del - GHRHR(NM_000823.3):c.882+15_882+17del (p.(=)) - GHRHR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.882+18T>A r.(=) p.(=) - likely benign g.31014673T>A g.30975058T>A GHRHR(NM_000823.3):c.882+18T>A (p.(=)) - GHRHR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.882+18T>C r.(=) p.(=) - likely benign g.31014673T>C - GHRHR(NM_000823.3):c.882+18T>C (p.(=)) - GHRHR_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.914G>A r.(?) p.(Arg305His) - VUS g.31015423G>A - GHRHR(NM_000823.3):c.914G>A (p.(Arg305His)) - GHRHR_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.960C>T r.(?) p.(Thr320=) - likely benign g.31015469C>T - GHRHR(NM_000823.3):c.960C>T (p.(Thr320=)) - GHRHR_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.965C>G r.(?) p.(Ser322Cys) - VUS g.31015474C>G - GHRHR(NM_000823.3):c.965C>G (p.(Ser322Cys)) - GHRHR_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.975-18G>A r.(=) p.(=) - benign g.31016026G>A g.30976411G>A GHRHR(NM_000823.3):c.975-18G>A (p.(=)) - GHRHR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.975-9T>C r.(=) p.(=) - likely benign g.31016035T>C - GHRHR(NM_000823.3):c.975-9T>C (p.(=)) - GHRHR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.975-6C>A r.(=) p.(=) - likely benign g.31016038C>A g.30976423C>A GHRHR(NM_000823.3):c.975-6C>A (p.(=)), GHRHR(NM_000823.4):c.975-6C>A - GHRHR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.975-6C>A r.(=) p.(=) - likely benign g.31016038C>A - GHRHR(NM_000823.3):c.975-6C>A (p.(=)), GHRHR(NM_000823.4):c.975-6C>A - GHRHR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1027A>C r.(?) p.(Ile343Leu) - likely benign g.31016096A>C - GHRHR(NM_000823.3):c.1027A>C (p.(Ile343Leu)) - GHRHR_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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