ClinVar for MedGen (Select 78776) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25856371.	NM_000163.5(GHR):c.311A>G (p.Tyr104Cys) GRCh37: Chr5:42695063 GRCh38: Chr5:42694961	GHR	Y104C, Y82C, Y111C	Laron-type isolated somatotropin defect	Uncertain significance	criteria provided, single submitter
Select item 25831682.	NM_000163.5(GHR):c.309T>A (p.Asp103Glu) GRCh37: Chr5:42695061 GRCh38: Chr5:42694959	GHR	D103E, D110E, D81E	Laron-type isolated somatotropin defect	Uncertain significance (Oct 6, 2023)	criteria provided, single submitter
Select item 18041773.	NM_000163.5(GHR):c.267-1155_333del GRCh37: Chr5:42693862-42695083 GRCh38: Chr5:42693760-42694981	GHR		Laron-type isolated somatotropin defect	Pathogenic	criteria provided, single submitter
Select item 17053334.	NM_000163.5(GHR):c.723C>T (p.Gly241=) GRCh37: Chr5:42711413 GRCh38: Chr5:42711311	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 14277645.	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 13326946.	NM_000163.5(GHR):c.70+5G>A GRCh37: Chr5:42566051 GRCh38: Chr5:42565949	GHR		Laron-type isolated somatotropin defect	Likely pathogenic	criteria provided, single submitter
Select item 12063527.	NM_000163.5(GHR):c.192_193del (p.Ser65fs) GRCh37: Chr5:42689044-42689045 GRCh38: Chr5:42688942-42688943	GHR	S43fs, S65fs, S72fs	Laron-type isolated somatotropin defect	Pathogenic (Dec 13, 2022)	criteria provided, single submitter
Select item 9077608.	NM_000163.5(GHR):c.*832G>A GRCh37: Chr5:42720358 GRCh38: Chr5:42720256	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9077599.	NM_000163.5(GHR):c.*724G>T GRCh37: Chr5:42720250 GRCh38: Chr5:42720148	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90771110.	NM_000163.5(GHR):c.1002C>T (p.Pro334=) GRCh37: Chr5:42718611 GRCh38: Chr5:42718509	GHR		Laron-type isolated somatotropin defect, not provided	Conflicting interpretations of pathogenicity (May 27, 2022)	criteria provided, conflicting interpretations
Select item 90771011.	NM_000163.5(GHR):c.814A>G (p.Ile272Val) GRCh37: Chr5:42713560 GRCh38: Chr5:42713458	GHR	I250V, I279V, I272V	Laron-type isolated somatotropin defect, not provided	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90770912.	NM_000163.5(GHR):c.743A>G (p.Tyr248Cys) GRCh37: Chr5:42711433 GRCh38: Chr5:42711331	GHR	Y226C, Y248C, Y255C	Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90770813.	NM_000163.5(GHR):c.724G>A (p.Glu242Lys) GRCh37: Chr5:42711414 GRCh38: Chr5:42711312	GHR	E220K, E242K, E249K	Laron-type isolated somatotropin defect, not provided	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90763414.	NM_000163.5(GHR):c.-150C>A GRCh37: Chr5:42423919 GRCh38: Chr5:42423817	GHR, LOC107963950		Laron-type isolated somatotropin defect	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90763315.	NM_000163.5(GHR):c.-176A>G GRCh37: Chr5:42423893 GRCh38: Chr5:42423791	GHR, LOC107963950		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90681816.	NM_000163.5(GHR):c.*2376A>G GRCh37: Chr5:42721902 GRCh38: Chr5:42721800	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90681717.	NM_000163.5(GHR):c.*1936T>C GRCh37: Chr5:42721462 GRCh38: Chr5:42721360	GHR		Laron-type isolated somatotropin defect	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90676418.	NM_000163.5(GHR):c.*534G>C GRCh37: Chr5:42720060 GRCh38: Chr5:42719958	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90676319.	NM_000163.5(GHR):c.*474C>A GRCh37: Chr5:42720000 GRCh38: Chr5:42719898	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90676220.	NM_000163.5(GHR):c.*461T>G GRCh37: Chr5:42719987 GRCh38: Chr5:42719885	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90676121.	NM_000163.5(GHR):c.*390A>G GRCh37: Chr5:42719916 GRCh38: Chr5:42719814	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90676022.	NM_000163.5(GHR):c.*61C>T GRCh37: Chr5:42719587 GRCh38: Chr5:42719485	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90668223.	NM_000163.5(GHR):c.486C>T (p.Val162=) GRCh37: Chr5:42699972 GRCh38: Chr5:42699870	GHR		not provided, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 90523324.	NM_000163.5(GHR):c.*1797G>C GRCh37: Chr5:42721323 GRCh38: Chr5:42721221	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90523225.	NM_000163.5(GHR):c.*1747G>A GRCh37: Chr5:42721273 GRCh38: Chr5:42721171	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90516926.	NM_000163.5(GHR):c.1745G>A (p.Gly582Glu) GRCh37: Chr5:42719354 GRCh38: Chr5:42719252	GHR	G582E, G560E, G589E	Laron-type isolated somatotropin defect, not provided	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90516827.	NM_000163.5(GHR):c.1664A>G (p.His555Arg) GRCh37: Chr5:42719273 GRCh38: Chr5:42719171	GHR	H533R, H555R, H562R	Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90510228.	NM_000163.5(GHR):c.440-7T>C GRCh37: Chr5:42699919 GRCh38: Chr5:42699817	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90510129.	NM_000163.5(GHR):c.267-3T>C GRCh37: Chr5:42695016 GRCh38: Chr5:42694914	GHR		Laron-type isolated somatotropin defect, not provided	Conflicting interpretations of pathogenicity (Sep 22, 2022)	criteria provided, conflicting interpretations
Select item 90510030.	NM_000163.5(GHR):c.169C>T (p.Arg57Cys) GRCh37: Chr5:42689024 GRCh38: Chr5:42688922	GHR	R35C, R57C, R64C	Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90443731.	NM_000163.5(GHR):c.*1611G>A GRCh37: Chr5:42721137 GRCh38: Chr5:42721035	GHR		Laron-type isolated somatotropin defect	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90443632.	NM_000163.5(GHR):c.*1531G>A GRCh37: Chr5:42721057 GRCh38: Chr5:42720955	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90443533.	NM_000163.5(GHR):c.*1032T>C GRCh37: Chr5:42720558 GRCh38: Chr5:42720456	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90437034.	NM_000163.5(GHR):c.1601A>G (p.Tyr534Cys) GRCh37: Chr5:42719210 GRCh38: Chr5:42719108	GHR	Y512C, Y541C, Y534C	Laron-type isolated somatotropin defect	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90430235.	NM_000163.5(GHR):c.68A>G (p.Glu23Gly) GRCh37: Chr5:42566044 GRCh38: Chr5:42565942	GHR	E23G, E30G	Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90430136.	NM_000163.5(GHR):c.-6A>G GRCh37: Chr5:42565971 GRCh38: Chr5:42565869	GHR	T6A	Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90430037.	NM_000163.5(GHR):c.-39G>C GRCh37: Chr5:42424030 GRCh38: Chr5:42423928	GHR, LOC107963950		Laron-type isolated somatotropin defect	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90429938.	NM_000163.5(GHR):c.-74C>T GRCh37: Chr5:42423995 GRCh38: Chr5:42423893	GHR, LOC107963950		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90429839.	NM_000163.5(GHR):c.-76C>T GRCh37: Chr5:42423993 GRCh38: Chr5:42423891	GHR, LOC107963950		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90429740.	NM_000163.5(GHR):c.-89G>T GRCh37: Chr5:42423980 GRCh38: Chr5:42423878	GHR, LOC107963950		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90429641.	NM_000163.5(GHR):c.-118C>T GRCh37: Chr5:42423951 GRCh38: Chr5:42423849	GHR, LOC107963950		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 86919142.	NM_000163.5(GHR):c.267-2A>G GRCh37: Chr5:42695017 GRCh38: Chr5:42694915	GHR		Laron-type isolated somatotropin defect	Pathogenic	criteria provided, single submitter
Select item 80741943.	NM_000163.5(GHR):c.344A>C (p.Asn115Thr) GRCh37: Chr5:42695096 GRCh38: Chr5:42694994	GHR	N115T, N122T, N93T	Laron-type isolated somatotropin defect	Likely pathogenic (Oct 23, 2018)	criteria provided, single submitter
Select item 73726544.	NM_000163.5(GHR):c.82A>G (p.Ile28Val) GRCh37: Chr5:42629151 GRCh38: Chr5:42629049	GHR	I28V, I35V	not provided, Inborn genetic diseases, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Feb 6, 2023)	criteria provided, conflicting interpretations
Select item 71747445.	NM_000163.5(GHR):c.1146C>T (p.Gly382=) GRCh37: Chr5:42718755 GRCh38: Chr5:42718653	GHR		not provided, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 70333446.	NM_000163.5(GHR):c.1542T>G (p.Cys514Trp) GRCh37: Chr5:42719151 GRCh38: Chr5:42719049	GHR	C492W, C521W, C514W	not provided, Laron-type isolated somatotropin defect	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59410247.	NM_000163.5(GHR):c.99C>G (p.Pro33=) GRCh37: Chr5:42629168 GRCh38: Chr5:42629066	GHR		Laron-type isolated somatotropin defect, not specified, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 49277448.	NM_000163.5(GHR):c.945G>A (p.Lys315=) GRCh37: Chr5:42718223 GRCh38: Chr5:42718121	GHR		Laron-type isolated somatotropin defect	Pathogenic (Jan 4, 2018)	criteria provided, single submitter
Select item 49277349.	NM_000163.5(GHR):c.364T>C (p.Trp122Arg) GRCh37: Chr5:42695116 GRCh38: Chr5:42695014	GHR	W122R, W129R, W100R	not provided	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 49277250.	NM_000163.5(GHR):c.12G>C (p.Trp4Cys) GRCh37: Chr5:42565988 GRCh38: Chr5:42565886	GHR	W4C, W11C	Laron-type isolated somatotropin defect	Uncertain significance (Mar 30, 2009)	no assertion criteria provided
Select item 39757751.	NM_000163.5(GHR):c.281G>A (p.Trp94Ter) GRCh37: Chr5:42695033 GRCh38: Chr5:42694931	GHR	W94, W101, W72*	Laron-type isolated somatotropin defect	Pathogenic (Nov 4, 2020)	no assertion criteria provided
Select item 35372052.	NM_000163.5(GHR):c.*2294A>G GRCh37: Chr5:42721820 GRCh38: Chr5:42721718	GHR		Laron-type isolated somatotropin defect	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35371953.	NM_000163.5(GHR):c.*2292A>G GRCh37: Chr5:42721818 GRCh38: Chr5:42721716	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35371854.	NM_000163.5(GHR):c.*2169C>T GRCh37: Chr5:42721695 GRCh38: Chr5:42721593	GHR		Laron-type isolated somatotropin defect	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 35371755.	NM_000163.5(GHR):c.*2042A>G GRCh37: Chr5:42721568 GRCh38: Chr5:42721466	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35371656.	NM_000163.5(GHR):c.*2018T>C GRCh37: Chr5:42721544 GRCh38: Chr5:42721442	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35371557.	NM_000163.5(GHR):c.*1934T>C GRCh37: Chr5:42721460 GRCh38: Chr5:42721358	GHR		Laron-type isolated somatotropin defect	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35371458.	NM_000163.5(GHR):c.*1916T>G GRCh37: Chr5:42721442 GRCh38: Chr5:42721340	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35371359.	NM_000163.5(GHR):c.*1892T>A GRCh37: Chr5:42721418 GRCh38: Chr5:42721316	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35371260.	NM_000163.5(GHR):c.*1847T>G GRCh37: Chr5:42721373 GRCh38: Chr5:42721271	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35371161.	NM_000163.5(GHR):c.*1790G>A GRCh37: Chr5:42721316 GRCh38: Chr5:42721214	GHR		Laron-type isolated somatotropin defect	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35371062.	NM_000163.5(GHR):c.*1770G>C GRCh37: Chr5:42721296 GRCh38: Chr5:42721194	GHR		Laron-type isolated somatotropin defect	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35370963.	NM_000163.5(GHR):c.*1689A>T GRCh37: Chr5:42721215 GRCh38: Chr5:42721113	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35370864.	NM_000163.5(GHR):c.*1554G>A GRCh37: Chr5:42721080 GRCh38: Chr5:42720978	GHR		Laron-type isolated somatotropin defect	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35370765.	NM_000163.5(GHR):c.*1539G>A GRCh37: Chr5:42721065 GRCh38: Chr5:42720963	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35370666.	NM_000163.5(GHR):c.*1498TTG[6] GRCh37: Chr5:42721024-42721026 GRCh38: Chr5:42720922-42720924	GHR		Laron-type isolated somatotropin defect	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35370567.	NM_000163.5(GHR):c.1253_1256del GRCh37: Chr5:42720776-42720779 GRCh38: Chr5:42720674-42720677	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35370468.	NM_000163.5(GHR):c.*981G>A GRCh37: Chr5:42720507 GRCh38: Chr5:42720405	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 35370369.	NM_000163.5(GHR):c.*941A>G GRCh37: Chr5:42720467 GRCh38: Chr5:42720365	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35370270.	NM_000163.5(GHR):c.*913C>T GRCh37: Chr5:42720439 GRCh38: Chr5:42720337	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35370171.	NM_000163.5(GHR):c.*836G>C GRCh37: Chr5:42720362 GRCh38: Chr5:42720260	GHR		Laron-type isolated somatotropin defect	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35370072.	NM_000163.5(GHR):c.*781T>A GRCh37: Chr5:42720307 GRCh38: Chr5:42720205	GHR		Laron-type isolated somatotropin defect	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35369973.	NM_000163.5(GHR):c.*693G>A GRCh37: Chr5:42720219 GRCh38: Chr5:42720117	GHR		Laron-type isolated somatotropin defect	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35369874.	NM_000163.5(GHR):c.*692C>A GRCh37: Chr5:42720218 GRCh38: Chr5:42720116	GHR		Laron-type isolated somatotropin defect	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35369775.	NM_000163.5(GHR):c.*670T>C GRCh37: Chr5:42720196 GRCh38: Chr5:42720094	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35369676.	NM_000163.5(GHR):c.*629G>A GRCh37: Chr5:42720155 GRCh38: Chr5:42720053	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35369577.	NM_000163.5(GHR):c.542_543insA GRCh37: Chr5:42720068-42720069 GRCh38: Chr5:42719966-42719967	GHR		Laron-type isolated somatotropin defect	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 35369478.	NM_000163.5(GHR):c.*364C>T GRCh37: Chr5:42719890 GRCh38: Chr5:42719788	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35369379.	NM_000163.5(GHR):c.*300G>A GRCh37: Chr5:42719826 GRCh38: Chr5:42719724	GHR		not provided, Laron-type isolated somatotropin defect	Benign (Nov 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 35369280.	NM_000163.5(GHR):c.*154G>A GRCh37: Chr5:42719680 GRCh38: Chr5:42719578	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35369181.	NM_000163.5(GHR):c.*36A>T GRCh37: Chr5:42719562 GRCh38: Chr5:42719460	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35369082.	NM_000163.5(GHR):c.1899G>A (p.Leu633=) GRCh37: Chr5:42719508 GRCh38: Chr5:42719406	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35368983.	NM_000163.5(GHR):c.1832C>T (p.Ala611Val) GRCh37: Chr5:42719441 GRCh38: Chr5:42719339	GHR	A611V, A618V, A589V	Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35368884.	NM_000163.5(GHR):c.1788C>G (p.Thr596=) GRCh37: Chr5:42719397 GRCh38: Chr5:42719295	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35368785.	NM_000163.5(GHR):c.1699A>T (p.Ile567Phe) GRCh37: Chr5:42719308 GRCh38: Chr5:42719206	GHR	I567F, I574F, I545F	not provided, Laron-type isolated somatotropin defect	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35368686.	NM_000163.5(GHR):c.1640C>T (p.Ala547Val) GRCh37: Chr5:42719249 GRCh38: Chr5:42719147	GHR	A547V, A525V, A554V	Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35368587.	NM_000163.5(GHR):c.1483C>A (p.Pro495Thr) GRCh37: Chr5:42719092 GRCh38: Chr5:42718990	GHR	P495T, P473T, P502T	not provided, Laron-type isolated somatotropin defect	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35368488.	NM_000163.5(GHR):c.1025G>T (p.Trp342Leu) GRCh37: Chr5:42718634 GRCh38: Chr5:42718532	GHR	W342L, W349L, W320L	Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35368389.	NM_000163.5(GHR):c.876-15T>G GRCh37: Chr5:42718139 GRCh38: Chr5:42718037	GHR		not provided, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 35368290.	NM_000163.5(GHR):c.875+10G>C GRCh37: Chr5:42713631 GRCh38: Chr5:42713529	GHR		not provided, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 35368191.	NM_000163.5(GHR):c.660G>T (p.Leu220Phe) GRCh37: Chr5:42711350 GRCh38: Chr5:42711248	GHR	L220F, L198F, L227F	Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35368092.	NM_000163.5(GHR):c.273T>A (p.Thr91=) GRCh37: Chr5:42695025 GRCh38: Chr5:42694923	GHR		not provided, Laron-type isolated somatotropin defect	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 35367993.	NM_000163.5(GHR):c.206C>T (p.Thr69Ile) GRCh37: Chr5:42689061 GRCh38: Chr5:42688959	GHR	T69I, T47I, T76I	not provided, Laron-type isolated somatotropin defect, not specified	Conflicting interpretations of pathogenicity (Feb 3, 2023)	criteria provided, conflicting interpretations
Select item 35367894.	NM_000163.5(GHR):c.182G>A (p.Arg61Gln) GRCh37: Chr5:42689037 GRCh38: Chr5:42688935	GHR	R61Q, R68Q, R39Q	Laron-type isolated somatotropin defect	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35367795.	NM_000163.5(GHR):c.-10T>C GRCh37: Chr5:42565967 GRCh38: Chr5:42565865	GHR		Laron-type isolated somatotropin defect	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35367696.	NM_000163.5(GHR):c.-164A>G GRCh37: Chr5:42423905 GRCh38: Chr5:42423803	GHR, LOC107963950		not provided, Laron-type isolated somatotropin defect	Benign (Jun 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 28165697.	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 28109698.	NM_000163.5(GHR):c.1735C>A (p.Pro579Thr) GRCh37: Chr5:42719344 GRCh38: Chr5:42719242	GHR	P579T, P557T, P586T	not specified, not provided, Laron-type isolated somatotropin defect	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28109599.	NM_000163.5(GHR):c.1319G>T (p.Cys440Phe) GRCh37: Chr5:42718928 GRCh38: Chr5:42718826	GHR	C440F, C447F, C418F	not specified, not provided, Laron-type isolated somatotropin defect	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 255408100.	NM_000163.5(GHR):c.785-9G>A GRCh37: Chr5:42713522 GRCh38: Chr5:42713420	GHR		Laron-type isolated somatotropin defect, not specified, not provided	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts

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