GHSR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +304 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 155535	GRCh38/hg38 3q26.31(chr3:171960150-172473569)x1	FNDC3B, GHSR +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 154453	GRCh38/hg38 3q26.31(chr3:171968610-173131280)x1	LOC112935909, LOC112935910 +35 more	Copy number loss	See cases	GLikely pathogenic
Select item 369417	NM_198407.2(GHSR):c.*1880delA	GHSR	Deletion (genic downstream transcript variant)	Short stature due to partial GHR deficiency	GBenign
Select item 901263	NM_198407.2(GHSR):c.*1857G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344173	NM_198407.2(GHSR):c.*1832G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344174	NM_198407.2(GHSR):c.*1815C>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 901802	NM_198407.2(GHSR):c.*1805G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 901803	NM_198407.2(GHSR):c.*1775G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 901804	NM_198407.2(GHSR):c.*1736A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GBenign
Select item 901805	NM_198407.2(GHSR):c.*1728A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 901806	NM_198407.2(GHSR):c.*1712T>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344175	NM_198407.2(GHSR):c.1676_1679del	GHSR	Deletion (3 prime UTR variant)	Short stature due to partial GHR deficiency	GLikely benign
Select item 344176	NM_198407.2(GHSR):c.*1608C>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344177	NM_198407.2(GHSR):c.*1554C>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to partial GHR deficiency	GUncertain significance
Select item 901807	NM_198407.2(GHSR):c.*1532C>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344178	NM_198407.2(GHSR):c.*1506C>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 902707	NM_198407.2(GHSR):c.*1445A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344179	NM_198407.2(GHSR):c.*1345G>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344180	NM_198407.2(GHSR):c.*1308T>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GBenign
Select item 344181	NM_198407.2(GHSR):c.*1268T>C	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 902708	NM_198407.2(GHSR):c.*1161C>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 902709	NM_198407.2(GHSR):c.*1158G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 344182	NM_198407.2(GHSR):c.*1109G>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GBenign
Select item 900160	NM_198407.2(GHSR):c.*1073A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344183	NM_198407.2(GHSR):c.*1046T>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344184	NM_198407.2(GHSR):c.*1024G>C	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GBenign
Select item 900161	NM_198407.2(GHSR):c.*950A>C	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344185	NM_198407.2(GHSR):c.*842T>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 900162	NM_198407.2(GHSR):c.*840A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344186	NM_198407.2(GHSR):c.*834C>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GBenign
Select item 344187	NM_198407.2(GHSR):c.*829C>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 344188	NM_198407.2(GHSR):c.*813A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 344189	NM_198407.2(GHSR):c.*796A>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GBenign
Select item 344190	NM_198407.2(GHSR):c.*792G>C	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GBenign
Select item 344191	NM_198407.2(GHSR):c.*758G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 901325	NM_198407.2(GHSR):c.*747G>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 901326	NM_198407.2(GHSR):c.*676C>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344192	NM_198407.2(GHSR):c.561_568del	GHSR	Deletion (3 prime UTR variant)	Short stature due to partial GHR deficiency	GBenign
Select item 901327	NM_198407.2(GHSR):c.*512A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344193	NM_198407.2(GHSR):c.*472C>T	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 901870	NM_198407.2(GHSR):c.*398T>C	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 901871	NM_198407.2(GHSR):c.*378T>C	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GLikely benign
Select item 344194	NM_198407.2(GHSR):c.*300G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344195	NM_198407.2(GHSR):c.*294C>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344196	NM_198407.2(GHSR):c.*122C>T	GHSR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 344197	NM_198407.2(GHSR):c.*114A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 902773	NM_198407.2(GHSR):c.*5G>A	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 2869309	NM_198407.2(GHSR):c.1088G>A (p.Ser363Asn)	GHSR (S363N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628610	NM_198407.2(GHSR):c.1086T>A (p.Ser362=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1033260	NM_198407.2(GHSR):c.1072G>A (p.Ala358Thr)	GHSR (A358T)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 902774	NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln)	GHSR (R357Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985552	NM_198407.2(GHSR):c.1069C>T (p.Arg357Trp)	GHSR (R357W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281357	NM_198407.2(GHSR):c.1065T>G (p.Ser355Arg)	GHSR (S355R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1981240	NM_198407.2(GHSR):c.1065T>A (p.Ser355Arg)	GHSR (S355R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 344198	NM_198407.2(GHSR):c.1051C>T (p.Leu351=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 2987504	NM_198407.2(GHSR):c.1049C>G (p.Thr350Ser)	GHSR (T350S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025005	NM_198407.2(GHSR):c.1044del (p.Ser349fs)	GHSR (S349fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1398404	NM_198407.2(GHSR):c.1042C>T (p.Leu348Phe)	GHSR (L348F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738419	NM_198407.2(GHSR):c.1029C>T (p.Phe343=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767346	NM_198407.2(GHSR):c.1020C>T (p.Phe340=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 344199	NM_198407.2(GHSR):c.1017A>G (p.Gly339=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2000412	NM_198407.2(GHSR):c.1014G>A (p.Leu338=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3099749	NM_198407.2(GHSR):c.998C>T (p.Ala333Val)	GHSR (A333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902775	NM_198407.2(GHSR):c.994G>C (p.Val332Leu)	GHSR (V332L)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 1967433	NM_198407.2(GHSR):c.991C>T (p.Arg331Trp)	GHSR (R331W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621003	NM_198407.2(GHSR):c.978G>A (p.Met326Ile)	GHSR (M326I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3012759	NM_198407.2(GHSR):c.974T>A (p.Ile325Asn)	GHSR (I325N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593300	NM_198407.2(GHSR):c.972C>T (p.Asn324=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934677	NM_198407.2(GHSR):c.959C>A (p.Pro320His)	GHSR (P320H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2279034	NM_198407.2(GHSR):c.940C>T (p.Leu314Phe)	GHSR (L314F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761566	NM_198407.2(GHSR):c.924C>G (p.Ser308=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2791944	NM_198407.2(GHSR):c.894T>C (p.Ala298=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523969	NM_198407.2(GHSR):c.878del (p.Gly293fs)	GHSR (G293fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2023295	NM_198407.2(GHSR):c.874C>T (p.Pro292Ser)	GHSR (P292S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949226	NM_198407.2(GHSR):c.866C>T (p.Ser289Phe)	GHSR (S289F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338909	NM_198407.2(GHSR):c.852T>C (p.Tyr284=)	GHSR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 488915	NM_198407.2(GHSR):c.847C>T (p.Arg283Ter)	GHSR (R283*)	Single nucleotide variant (nonsense)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GUncertain significance
Select item 1448801	NM_198407.2(GHSR):c.834del (p.Phe279fs)	GHSR (F279fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2503200	NM_198407.2(GHSR):c.832C>A (p.Pro278Thr)	GHSR (P278T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924288	NM_198407.2(GHSR):c.831C>T (p.Leu277=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972583	NM_198407.2(GHSR):c.829C>T (p.Leu277Phe)	GHSR (L277F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 902776	NM_198407.2(GHSR):c.824G>C (p.Cys275Ser)	GHSR (C275S)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 900225	NM_198407.2(GHSR):c.823T>C (p.Cys275Arg)	GHSR (C275R)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GConflicting classifications of pathogenicity
Select item 985301	NM_198407.2(GHSR):c.820C>T (p.Leu274Phe)	GHSR (L274F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2966631	NM_198407.2(GHSR):c.819C>T (p.Ile273=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916984	NM_198407.2(GHSR):c.817A>G (p.Ile273Val)	GHSR (I273V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1566129	NM_198407.2(GHSR):c.816C>T (p.Phe272=)	GHSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183733	NM_198407.2(GHSR):c.800T>C (p.Val267Ala)	GHSR (V267A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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