ClinVar for MedGen (Select 78776) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 131

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367179	NM_000163.5(GHR):c.599A>G (p.Asn200Ser)	GHR (N178S +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 3068226	NM_000163.5(GHR):c.655T>C (p.Ser219Pro)	GHR (S197P +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 3024216	NC_000005.10:g.(42700003_42711206)_(42719424_?)del	GHR	Deletion	Laron-type isolated somatotropin defect	GLikely pathogenic
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 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 1804177	NM_000163.5(GHR):c.267-1155_333del	GHR	Deletion (splice acceptor variant)	Laron-type isolated somatotropin defect	GPathogenic
Select item 1705333	NM_000163.5(GHR):c.723C>T (p.Gly241=)	GHR	Single nucleotide variant (synonymous variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 1442875	NM_000163.5(GHR):c.784+6A>G	GHR	Single nucleotide variant (intron variant)	Laron-type isolated somatotropin defect +2 more	GConflicting classifications of pathogenicity
Select item 1427764	NM_000163.5(GHR):c.484G>T (p.Val162Phe)	GHR (V140F +2 more)	Single nucleotide variant (missense variant)	Short stature due to partial GHR deficiency +3 more	GConflicting classifications of pathogenicity
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 1206352	NM_000163.5(GHR):c.192_193del (p.Ser65fs)	GHR (S43fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 907760	NM_000163.5(GHR):c.*832G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 907759	NM_000163.5(GHR):c.*724G>T	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 907711	NM_000163.5(GHR):c.1002C>T (p.Pro334=)	GHR	Single nucleotide variant (synonymous variant +1 more)	Laron-type isolated somatotropin defect +1 more	GConflicting classifications of pathogenicity
Select item 907710	NM_000163.5(GHR):c.814A>G (p.Ile272Val)	GHR (I250V +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect +1 more	GUncertain significance
Select item 907709	NM_000163.5(GHR):c.743A>G (p.Tyr248Cys)	GHR (Y226C +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 907708	NM_000163.5(GHR):c.724G>A (p.Glu242Lys)	GHR (E220K +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect +1 more	GUncertain significance
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 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 906818	NM_000163.5(GHR):c.*2376A>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 906817	NM_000163.5(GHR):c.*1936T>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GLikely benign
Select item 906764	NM_000163.5(GHR):c.*534G>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 906763	NM_000163.5(GHR):c.*474C>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 906762	NM_000163.5(GHR):c.*461T>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 906761	NM_000163.5(GHR):c.*390A>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 906760	NM_000163.5(GHR):c.*61C>T	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 906682	NM_000163.5(GHR):c.486C>T (p.Val162=)	GHR	Single nucleotide variant (synonymous variant)	Laron-type isolated somatotropin defect +1 more	GConflicting classifications of pathogenicity
Select item 905233	NM_000163.5(GHR):c.*1797G>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 905232	NM_000163.5(GHR):c.*1747G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 905169	NM_000163.5(GHR):c.1745G>A (p.Gly582Glu)	GHR (G582E +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect +1 more	GUncertain significance
Select item 905168	NM_000163.5(GHR):c.1664A>G (p.His555Arg)	GHR (H533R +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 905102	NM_000163.5(GHR):c.440-7T>C	GHR	Single nucleotide variant (intron variant)	Laron-type isolated somatotropin defect +1 more	GConflicting classifications of pathogenicity
Select item 905101	NM_000163.5(GHR):c.267-3T>C	GHR	Single nucleotide variant (intron variant)	Laron-type isolated somatotropin defect +1 more	GConflicting classifications of pathogenicity
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 904437	NM_000163.5(GHR):c.*1611G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GLikely benign
Select item 904436	NM_000163.5(GHR):c.*1531G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 904435	NM_000163.5(GHR):c.*1032T>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 904370	NM_000163.5(GHR):c.1601A>G (p.Tyr534Cys)	GHR (Y512C +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
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 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 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 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 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 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 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 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 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 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 717474	NM_000163.5(GHR):c.1146C>T (p.Gly382=)	GHR	Single nucleotide variant (synonymous variant +1 more)	Laron-type isolated somatotropin defect +1 more	GConflicting classifications of pathogenicity
Select item 703334	NM_000163.5(GHR):c.1542T>G (p.Cys514Trp)	GHR (C492W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
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 492774	NM_000163.5(GHR):c.945G>A (p.Lys315=)	GHR	Single nucleotide variant (synonymous variant +1 more)	Laron-type isolated somatotropin defect	GPathogenic
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 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 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 353720	NM_000163.5(GHR):c.*2294A>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 353719	NM_000163.5(GHR):c.*2292A>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353718	NM_000163.5(GHR):c.*2169C>T	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GLikely benign
Select item 353717	NM_000163.5(GHR):c.*2042A>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353716	NM_000163.5(GHR):c.*2018T>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353715	NM_000163.5(GHR):c.*1934T>C	GHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 353714	NM_000163.5(GHR):c.*1916T>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353713	NM_000163.5(GHR):c.*1892T>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353712	NM_000163.5(GHR):c.*1847T>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353711	NM_000163.5(GHR):c.*1790G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 353710	NM_000163.5(GHR):c.*1770G>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect +1 more	GBenign
Select item 353709	NM_000163.5(GHR):c.*1689A>T	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353708	NM_000163.5(GHR):c.*1554G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect +1 more	GBenign
Select item 353707	NM_000163.5(GHR):c.*1539G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353706	NM_000163.5(GHR):c.*1498TTG[6]	GHR	Microsatellite (3 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 353705	NM_000163.5(GHR):c.1253_1256del	GHR	Deletion (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353704	NM_000163.5(GHR):c.*981G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353703	NM_000163.5(GHR):c.*941A>G	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353702	NM_000163.5(GHR):c.*913C>T	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353701	NM_000163.5(GHR):c.*836G>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GLikely benign
Select item 353700	NM_000163.5(GHR):c.*781T>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 353699	NM_000163.5(GHR):c.*693G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 353698	NM_000163.5(GHR):c.*692C>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 353697	NM_000163.5(GHR):c.*670T>C	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353696	NM_000163.5(GHR):c.*629G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353695	NM_000163.5(GHR):c.542_543insA	GHR	Insertion (3 prime UTR variant)	Laron-type isolated somatotropin defect	GBenign
Select item 353694	NM_000163.5(GHR):c.*364C>T	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353693	NM_000163.5(GHR):c.*300G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect +1 more	GBenign
Select item 353692	NM_000163.5(GHR):c.*154G>A	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353691	NM_000163.5(GHR):c.*36A>T	GHR	Single nucleotide variant (3 prime UTR variant)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353690	NM_000163.5(GHR):c.1899G>A (p.Leu633=)	GHR	Single nucleotide variant (synonymous variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353689	NM_000163.5(GHR):c.1832C>T (p.Ala611Val)	GHR (A611V +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353688	NM_000163.5(GHR):c.1788C>G (p.Thr596=)	GHR	Single nucleotide variant (synonymous variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353687	NM_000163.5(GHR):c.1699A>T (p.Ile567Phe)	GHR (I567F +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect +1 more	GUncertain significance
Select item 353686	NM_000163.5(GHR):c.1640C>T (p.Ala547Val)	GHR (A547V +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353685	NM_000163.5(GHR):c.1483C>A (p.Pro495Thr)	GHR (P495T +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect +1 more	GBenign/Likely benign
Select item 353684	NM_000163.5(GHR):c.1025G>T (p.Trp342Leu)	GHR (W342L +2 more)	Single nucleotide variant (missense variant +1 more)	Laron-type isolated somatotropin defect	GUncertain significance
Select item 353683	NM_000163.5(GHR):c.876-15T>G	GHR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 353682	NM_000163.5(GHR):c.875+10G>C	GHR	Single nucleotide variant (intron variant)	Laron-type isolated somatotropin defect +1 more	GConflicting classifications of pathogenicity
Select item 353681	NM_000163.5(GHR):c.660G>T (p.Leu220Phe)	GHR (L220F +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect	GUncertain significance
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 353679	NM_000163.5(GHR):c.206C>T (p.Thr69Ile)	GHR (T69I +2 more)	Single nucleotide variant (missense variant)	Laron-type isolated somatotropin defect +2 more	GConflicting classifications of pathogenicity
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 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 353676	NM_000163.5(GHR):c.-164A>G	GHR, LOC107963950	Single nucleotide variant (5 prime UTR variant)	Laron-type isolated somatotropin defect +1 more	GBenign

<< First< Prev

Page of 2