GHR[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1231710	NM_000163.5(GHR):c.-11-123C>T	GHR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1202951	NM_000163.5(GHR):c.-11-1G>C	GHR	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 353677	NM_000163.5(GHR):c.-10T>C	GHR	Single nucleotide variant (5 prime UTR variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 904301	NM_000163.5(GHR):c.-6A>G	GHR (T6A)	Single nucleotide variant (5 prime UTR variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 2734724	NM_000163.5(GHR):c.1A>G (p.Met1Val)	GHR (M8V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1967389	NM_000163.5(GHR):c.9C>T (p.Leu3=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734725	NM_000163.5(GHR):c.11G>A (p.Trp4Ter)	GHR (W11* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 492772	NM_000163.5(GHR):c.12G>C (p.Trp4Cys)	GHR (W4C +1 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 2753007	NM_000163.5(GHR):c.18G>T (p.Leu6=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994797	NM_000163.5(GHR):c.21G>A (p.Leu7=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994256	NM_000163.5(GHR):c.25A>G (p.Thr9Ala)	GHR (T16A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700297	NM_000163.5(GHR):c.33A>C (p.Ala11=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807401	NM_000163.5(GHR):c.34C>T (p.Leu12=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066245	NM_000163.5(GHR):c.40G>A (p.Gly14Arg)	GHR (G14R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559778	NM_000163.5(GHR):c.46A>C (p.Ser16Arg)	GHR (S16R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1993910	NM_000163.5(GHR):c.52G>A (p.Ala18Thr)	GHR (A18T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812710	NM_000163.5(GHR):c.56T>C (p.Phe19Ser)	GHR (F19S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966735	NM_000163.5(GHR):c.61G>A (p.Gly21Arg)	GHR (G21R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2845037	NM_000163.5(GHR):c.63A>C (p.Gly21=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 904302	NM_000163.5(GHR):c.68A>G (p.Glu23Gly)	GHR (E23G +1 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 2446354	NM_000163.5(GHR):c.70+1G>T	GHR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1332694	NM_000163.5(GHR):c.70+5G>A	GHR	Single nucleotide variant (intron variant)	Laron-type isolated somatotropin defect	GLikely pathogenic
Select item 2977136	NM_000163.5(GHR):c.70+19T>G	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245831	NM_000163.5(GHR):c.70+120A>T	GHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737265	NM_000163.5(GHR):c.82A>G (p.Ile28Val)	GHR (I28V +1 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect +2 more	GConflicting classifications of pathogenicity
Select item 1431063	NM_000163.5(GHR):c.98C>G (p.Pro33Arg)	GHR (P33R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 594102	NM_000163.5(GHR):c.99C>G (p.Pro33=)	GHR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 8657	NM_000163.5(GHR):c.102G>A (p.Trp34Ter)	GHR (W34* +1 more)	Single nucleotide variant (nonsense +1 more)	Growth hormone insensitivity syndrome	GPathogenic
Select item 3099731	NM_000163.5(GHR):c.132G>T (p.Lys44Asn)	GHR (K51N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 255403	NM_000163.5(GHR):c.137-35G>C	GHR	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2965237	NM_000163.5(GHR):c.137-10del	GHR	Deletion (intron variant)	not provided	GBenign
Select item 2784521	NM_000163.5(GHR):c.137-4G>A	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2297985	NM_000163.5(GHR):c.137A>T (p.Asn46Ile)	GHR (N46I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870585	NM_000163.5(GHR):c.140C>G (p.Ser47Cys)	GHR (S25C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2853625	NM_000163.5(GHR):c.141T>C (p.Ser47=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968480	NM_000163.5(GHR):c.151C>A (p.Pro51Thr)	GHR (P51T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8634	NM_000163.5(GHR):c.168C>A (p.Cys56Ter)	GHR (C56* +2 more)	Single nucleotide variant (nonsense)	Growth hormone insensitivity syndrome +1 more	GPathogenic/Likely pathogenic
Select item 905100	NM_000163.5(GHR):c.169C>T (p.Arg57Cys)	GHR (R35C +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 2597460	NM_000163.5(GHR):c.170G>A (p.Arg57His)	GHR (R35H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8633	NM_000163.5(GHR):c.181C>T (p.Arg61Ter)	GHR (R61* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 353678	NM_000163.5(GHR):c.182G>A (p.Arg61Gln)	GHR (R61Q +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 2736139	NM_000163.5(GHR):c.183A>T (p.Arg61=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8636	NM_000163.5(GHR):c.184G>A (p.Glu62Lys)	GHR (E62K +2 more)	Single nucleotide variant (missense variant)	Short stature due to partial GHR deficiency	GPathogenic
Select item 2825646	NM_000163.5(GHR):c.189T>C (p.Thr63=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206352	NM_000163.5(GHR):c.192_193del (p.Ser65fs)	GHR (S43fs +2 more)	Deletion (frameshift variant)	Laron-type isolated somatotropin defect +1 more	GPathogenic
Select item 197112	NM_000163.5(GHR):c.195A>G (p.Ser65=)	GHR	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3008178	NM_000163.5(GHR):c.198C>T (p.Cys66=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824242	NM_000163.5(GHR):c.203G>A (p.Trp68Ter)	GHR (W68* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 353679	NM_000163.5(GHR):c.206C>T (p.Thr69Ile)	GHR (T69I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2793093	NM_000163.5(GHR):c.207A>G (p.Thr69=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963564	NM_000163.5(GHR):c.213G>A (p.Glu71=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181305	NM_000163.5(GHR):c.214G>A (p.Val72Ile)	GHR (V72I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 449369	NM_000163.5(GHR):c.239G>T (p.Gly80Val)	GHR (G80V +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2754409	NM_000163.5(GHR):c.255C>T (p.Phe85=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881897	NM_000163.5(GHR):c.264A>G (p.Arg88=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 8640	NM_000163.5(GHR):c.266+1G>A	GHR	Single nucleotide variant (splice donor variant)	Laron-type isolated somatotropin defect	GPathogenic
Select item 2768697	NM_000163.5(GHR):c.266+7C>A	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619375	NM_000163.5(GHR):c.266+9A>G	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777743	NM_000163.5(GHR):c.266+15C>A	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743490	NM_000163.5(GHR):c.266+17T>C	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2203644	NM_000163.5(GHR):c.266+83G>T	GHR	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1259012	NM_000163.5(GHR):c.266+419G>A	GHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804177	NM_000163.5(GHR):c.267-1155_333del	GHR	Deletion (splice acceptor variant)	Laron-type isolated somatotropin defect	GPathogenic
Select item 1967723	NM_000163.5(GHR):c.267-17T>G	GHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2800268	NM_000163.5(GHR):c.267-11C>T	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894961	NM_000163.5(GHR):c.267-9T>C	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995705	NM_000163.5(GHR):c.267-3dup	GHR	Duplication (intron variant)	not provided	GBenign
Select item 905101	NM_000163.5(GHR):c.267-3T>C	GHR	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 869191	NM_000163.5(GHR):c.267-2A>G	GHR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 353680	NM_000163.5(GHR):c.273T>A (p.Thr91=)	GHR	Single nucleotide variant (synonymous variant)	Laron-type isolated somatotropin defect +1 more	GConflicting classifications of pathogenicity
Select item 397577	NM_000163.5(GHR):c.281G>A (p.Trp94Ter)	GHR (W94* +2 more)	Single nucleotide variant (nonsense)	Laron-type isolated somatotropin defect	GPathogenic
Select item 2799092	NM_000163.5(GHR):c.288A>G (p.Gln96=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2576042	NM_000163.5(GHR):c.289G>A (p.Glu97Lys)	GHR (E104K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8659	NM_000163.5(GHR):c.303C>A (p.Cys101Ter)	GHR (C101* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2583168	NM_000163.5(GHR):c.309T>A (p.Asp103Glu)	GHR (D103E +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 2585637	NM_000163.5(GHR):c.311A>G (p.Tyr104Cys)	GHR (Y104C +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 2716291	NM_000163.5(GHR):c.329A>T (p.Asn110Ile)	GHR (N117I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734726	NM_000163.5(GHR):c.335G>T (p.Cys112Phe)	GHR (C119F +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 8662	NM_000163.5(GHR):c.335G>C (p.Cys112Ser)	GHR (C112S +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GPathogenic
Select item 2704686	NM_000163.5(GHR):c.337del (p.Tyr113fs)	GHR (Y91fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1388347	NM_000163.5(GHR):c.338A>C (p.Tyr113Ser)	GHR (Y113S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 8632	NM_000163.5(GHR):c.341T>C (p.Phe114Ser)	GHR (F114S +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GPathogenic
Select item 807419	NM_000163.5(GHR):c.344A>C (p.Asn115Thr)	GHR (N115T +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GLikely pathogenic
Select item 2989206	NM_000163.5(GHR):c.351G>C (p.Ser117=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884962	NM_000163.5(GHR):c.351G>A (p.Ser117=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1346707	NM_000163.5(GHR):c.362T>G (p.Ile121Ser)	GHR (I121S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982672	NM_000163.5(GHR):c.363C>A (p.Ile121=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 492773	NM_000163.5(GHR):c.364T>C (p.Trp122Arg)	GHR (W122R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484001	NM_000163.5(GHR):c.367A>C (p.Ile123Leu)	GHR (I101L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2178137	NM_000163.5(GHR):c.375T>C (p.Tyr125=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824382	NM_000163.5(GHR):c.378T>C (p.Cys126=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502046	NM_000163.5(GHR):c.379A>G (p.Ile127Val)	GHR (I105V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654742	NM_000163.5(GHR):c.390T>G (p.Thr130=)	GHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707453	NM_000163.5(GHR):c.392G>A (p.Ser131Asn)	GHR (S131N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281867	NM_000163.5(GHR):c.401G>A (p.Gly134Asp)	GHR (G134D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1357267	NM_000163.5(GHR):c.406G>T (p.Val136Leu)	GHR (V136L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203372	NM_000163.5(GHR):c.411T>A (p.Asp137Glu)	GHR (D144E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855536	NM_000163.5(GHR):c.438del (p.Ile146fs)	GHR (I146fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 702838	NM_000163.5(GHR):c.439+9C>T	GHR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1996427	NM_000163.5(GHR):c.439+13T>G	GHR	Single nucleotide variant (intron variant)	not provided	GLikely benign

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