2690[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 153578	GRCh38/hg38 5p13.1-12(chr5:41876210-42913877)x1	CCDC152, FBXO4 +18 more	Copy number loss	See cases	GUncertain significance
Select item 144612	GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1	CCDC152, FBXO4 +16 more	Copy number loss	See cases	GPathogenic
Select item 907633	NM_000163.5(GHR):c.-176A>G	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353676	NM_000163.5(GHR):c.-164A>G	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 907634	NM_000163.5(GHR):c.-150C>A	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect	GLikely benign
Select item 904296	NM_000163.5(GHR):c.-118C>T	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 904297	NM_000163.5(GHR):c.-89G>T	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 904298	NM_000163.5(GHR):c.-76C>T	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 904299	NM_000163.5(GHR):c.-74C>T	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 904300	NM_000163.5(GHR):c.-39G>C	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 1290974	NM_000163.5(GHR):c.-12+217GT[27]	GHR, LOC107963950	Microsatellite (intron variant)	not provided	GBenign
Select item 1274890	NM_000163.5(GHR):c.-12+217GT[26]	GHR, LOC107963950	Microsatellite (intron variant)	not provided	GBenign
Select item 931622	NM_000163.5(GHR):c.-12+643G>A	GHR, LOC107963950 (G4S)	Single nucleotide variant (missense variant +2 more)	Short stature due to partial GHR deficiency	GUncertain significance
Select item 3035850	NM_000163.5(GHR):c.-12+646A>T	GHR, LOC107963950	Single nucleotide variant (intron variant)	GHR-related condition	GBenign
Select item 1338844	GRCh38/hg38 5p12(chr5:42502606-42696476)	GHR, LOC107963949	Copy number gain	Diaphragmatic hernia	GUncertain significance
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)	Inborn genetic diseases +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 specified +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 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
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)	Laron-type isolated somatotropin defect +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

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