ClinVar for MedGen (Select 1633096) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432121	NM_198407.2(GHSR):c.575dup (p.Trp193fs)	GHSR (W193fs)	Duplication (frameshift variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 1683614	NM_198407.2(GHSR):c.75dup (p.Gly26fs)	GHSR (G26fs)	Duplication (frameshift variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 1349055	NM_198407.2(GHSR):c.755C>T (p.Ser252Leu)	GHSR (S252L)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GUncertain significance
Select item 1339488	NM_198407.2(GHSR):c.545T>C (p.Val182Ala)	GHSR (V182A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1209321	NM_198407.2(GHSR):c.422G>C (p.Arg141Pro)	GHSR (R141P)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +2 more	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 983070	NM_198407.2(GHSR):c.617G>C (p.Arg206Pro)	GHSR (R206P)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency	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 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 902774	NM_198407.2(GHSR):c.1070G>A (p.Arg357Gln)	GHSR (R357Q)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 901383	NM_198407.2(GHSR):c.68C>T (p.Ala23Val)	GHSR (A23V)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 901382	NM_198407.2(GHSR):c.84C>T (p.Asp28=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 901381	NM_198407.2(GHSR):c.102G>A (p.Leu34=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 901380	NM_198407.2(GHSR):c.124C>G (p.Leu42Val)	GHSR (L42V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 901379	NM_198407.2(GHSR):c.210C>T (p.Arg70=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GBenign/Likely benign
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 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 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 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 900228	NM_198407.2(GHSR):c.231C>G (p.Thr77=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 900227	NM_198407.2(GHSR):c.354C>T (p.Leu118=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 900226	NM_198407.2(GHSR):c.777G>T (p.Lys259Asn)	GHSR (K259N)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GUncertain significance
Select item 900225	NM_198407.2(GHSR):c.823T>C (p.Cys275Arg)	GHSR (C275R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 761566	NM_198407.2(GHSR):c.924C>G (p.Ser308=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GConflicting classifications of pathogenicity
Select item 698146	NM_198407.2(GHSR):c.144C>T (p.Ala48=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GBenign
Select item 698005	NM_198407.2(GHSR):c.531C>A (p.Pro177=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 344203	NM_198407.2(GHSR):c.-23G>A	GHSR	Single nucleotide variant (5 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency	GUncertain significance
Select item 344202	NM_198407.2(GHSR):c.60C>T (p.Asp20=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GBenign
Select item 344201	NM_198407.2(GHSR):c.271C>T (p.Leu91Phe)	GHSR (L91F)	Single nucleotide variant (missense variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GBenign
Select item 344200	NM_198407.2(GHSR):c.447C>G (p.Leu149=)	GHSR	Single nucleotide variant (synonymous variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GBenign
Select item 344199	NM_198407.2(GHSR):c.1017A>G (p.Gly339=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 344197	NM_198407.2(GHSR):c.*114A>G	GHSR	Single nucleotide variant (3 prime UTR variant)	Short stature due to growth hormone secretagogue receptor deficiency +1 more	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 263110	NM_198407.2(GHSR):c.477G>A (p.Arg159=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 263109	NM_198407.2(GHSR):c.171C>T (p.Gly57=)	GHSR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 8637	NM_000163.5(GHR):c.535C>T (p.Arg179Cys)	GHR (R179C +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 7634	NM_198407.2(GHSR):c.709A>T (p.Arg237Trp)	GHSR (R237W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 7633	NM_198407.2(GHSR):c.6G>A (p.Trp2Ter)	GHSR (W2*)	Single nucleotide variant (nonsense)	Short stature due to growth hormone secretagogue receptor deficiency	GPathogenic
Select item 7632	NM_198407.2(GHSR):c.611C>A (p.Ala204Glu)	GHSR (A204E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 76