"Illumina Laboratory Services, Illumina"[submitter] AND "GHSR"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Short stature due to growth hormone secretagogue receptor deficiency +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 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 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 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 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 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 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 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)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 263110	NM_198407.2(GHSR):c.477G>A (p.Arg159=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +2 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 900227	NM_198407.2(GHSR):c.354C>T (p.Leu118=)	GHSR	Single nucleotide variant (synonymous variant)	not provided +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 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 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 263109	NM_198407.2(GHSR):c.171C>T (p.Gly57=)	GHSR	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 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 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 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 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 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic

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Items: 71