ClinVar for MedGen (Select 346958) - ClinVar - NCBI

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Items: 19

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14277641.	NM_000163.5(GHR):c.484G>T (p.Val162Phe) GRCh37: Chr5:42699970 GRCh38: Chr5:42699868	GHR	V140F, V162F, V169F	not provided, Short stature due to partial GHR deficiency, Hypercholesterolemia, familial, 1, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 13763962.	NM_000163.5(GHR):c.1589T>C (p.Met530Thr) GRCh37: Chr5:42719198 GRCh38: Chr5:42719096	GHR	M537T, M508T, M530T	not provided, Inborn genetic diseases, Short stature due to partial GHR deficiency	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9316223.	NM_000163.5(GHR):c.-12+643G>A GRCh37: Chr5:42424700 GRCh38: Chr5:42424598	GHR, LOC107963950	G4S	Short stature due to partial GHR deficiency	Uncertain significance (Dec 4, 2019)	criteria provided, single submitter
Select item 9303234.	NM_000163.5(GHR):c.1003G>A (p.Glu335Lys) GRCh37: Chr5:42718612 GRCh38: Chr5:42718510	GHR	E342K, E313K, E335K	Inborn genetic diseases, Short stature due to partial GHR deficiency	Uncertain significance (Jan 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3694175.	NM_198407.2(GHSR):c.*1880delA GRCh37: Chr3:172161071 GRCh38: Chr3:172443281	GHSR		Short stature due to partial GHR deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3441926.	NM_198407.2(GHSR):c.561_568del GRCh37: Chr3:172162383-172162390 GRCh38: Chr3:172444593-172444600	GHSR		Short stature due to partial GHR deficiency	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3441777.	NM_198407.2(GHSR):c.*1554C>T GRCh37: Chr3:172161397 GRCh38: Chr3:172443607	GHSR		Short stature due to partial GHR deficiency	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3441758.	NM_198407.2(GHSR):c.1676_1679del GRCh37: Chr3:172161272-172161275 GRCh38: Chr3:172443482-172443485	GHSR		Short stature due to partial GHR deficiency	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 2816569.	NM_000163.5(GHR):c.686G>A (p.Arg229His) GRCh37: Chr5:42711376 GRCh38: Chr5:42711274	GHR	R229H, R236H, R207H	Laron-type isolated somatotropin defect, Short stature due to partial GHR deficiency, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 25418010.	NM_000163.5(GHR):c.559T>C (p.Trp187Arg) GRCh37: Chr5:42700045 GRCh38: Chr5:42699943	GHR	W187R, W165R, W194R	Short stature due to partial GHR deficiency	Pathogenic	no assertion criteria provided
Select item 22537411.	NM_000163.5(GHR):c.497G>A (p.Gly166Glu) GRCh37: Chr5:42699983 GRCh38: Chr5:42699881	GHR	G166E, G173E, G144E	Short stature due to partial GHR deficiency	Uncertain significance (Mar 18, 2016)	criteria provided, single submitter
Select item 19839812.	NM_000163.5(GHR):c.718T>C (p.Tyr240His) GRCh37: Chr5:42711408 GRCh38: Chr5:42711306	GHR	Y240H, Y218H, Y247H	not provided, Laron-type isolated somatotropin defect, Short stature due to partial GHR deficiency, Disproportionate short-limb short stature, Genu varum, Relative macrocephaly, Mesomelic/rhizomelic limb shortening, Specific learning disability, Seizure, Short stature	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 19805113.	NM_000163.5(GHR):c.558A>G (p.Gly186=) GRCh37: Chr5:42700044 GRCh38: Chr5:42699942	GHR		not specified, not provided, Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 865814.	NM_000163.5(GHR):c.1630A>C (p.Ile544Leu) GRCh37: Chr5:42719239 GRCh38: Chr5:42719137	GHR	I544L, I522L, I551L	not specified, not provided, Laron-type isolated somatotropin defect, Short stature due to partial GHR deficiency	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 865215.	NM_000163.5(GHR):c.484G>A (p.Val162Ile) GRCh37: Chr5:42699970 GRCh38: Chr5:42699868	GHR	V162I, V140I, V169I	not provided, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 864616.	NM_000163.5(GHR):c.876-1G>C GRCh37: Chr5:42718153 GRCh38: Chr5:42718051	GHR		Short stature due to partial GHR deficiency	Pathogenic (May 1, 1997)	no assertion criteria provided
Select item 863817.	NM_000163.5(GHR):c.726G>C (p.Glu242Asp) GRCh37: Chr5:42711416 GRCh38: Chr5:42711314	GHR	E242D, E220D, E249D	not provided, Short stature due to partial GHR deficiency	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 863718.	NM_000163.5(GHR):c.535C>T (p.Arg179Cys) GRCh37: Chr5:42700021 GRCh38: Chr5:42699919	GHR	R179C, R157C, R186C	GHR-related condition, Laron-type isolated somatotropin defect, Short stature due to partial GHR deficiency, Laron-type isolated somatotropin defect, Hypercholesterolemia, familial, 1, Short stature due to partial GHR deficiency, Short stature due to growth hormone secretagogue receptor deficiency, not provided, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (May 16, 2023)	criteria provided, conflicting interpretations
Select item 863619.	NM_000163.5(GHR):c.184G>A (p.Glu62Lys) GRCh37: Chr5:42689039 GRCh38: Chr5:42688937	GHR	E62K, E40K, E69K	Short stature due to partial GHR deficiency	Pathogenic (Oct 26, 1995)	no assertion criteria provided