ClinVar for MedGen (Select 483740) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065805	NM_178138.6(LHX3):c.634_636del (p.Glu212del)	LHX3 (E201del +2 more)	Deletion (inframe_deletion)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 2444147	NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)	LHX3 (C107* +2 more)	Single nucleotide variant (nonsense)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 2433429	NM_178138.6(LHX3):c.1003T>C (p.Ser335Pro)	LHX3 (S324P +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 1341562	NM_178138.6(LHX3):c.581C>G (p.Thr194Arg)	LHX3 (T183R +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GLikely pathogenic
Select item 1324663	NM_178138.6(LHX3):c.280C>T (p.Gln94Ter)	LHX3 (Q83* +2 more)	Single nucleotide variant (nonsense)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GLikely pathogenic
Select item 1188623	NM_178138.6(LHX3):c.94G>A (p.Ala32Thr)	LHX3 (A21T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185284	NM_178138.6(LHX3):c.251+30G>A	LHX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185283	NM_178138.6(LHX3):c.251+148T>C	LHX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185282	NM_178138.6(LHX3):c.454+64C>T	LHX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185281	NM_178138.6(LHX3):c.776-90C>T	LHX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1073213	NM_178138.6(LHX3):c.214C>T (p.Arg72Ter)	LHX3 (R61* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1070291	NM_178138.6(LHX3):c.80-2A>G	LHX3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1067231	NM_178138.6(LHX3):c.607-3_630del	LHX3	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 984382	NM_178138.6(LHX3):c.93_95dup (p.Ala32dup)	LHX3	Duplication (inframe_insertion)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914779	NM_178138.6(LHX3):c.597C>T (p.Arg199=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914778	NM_178138.6(LHX3):c.622C>T (p.Arg208Cys)	LHX3 (R197C +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914777	NM_178138.6(LHX3):c.812G>A (p.Gly271Asp)	LHX3 (G260D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 914722	NM_178138.6(LHX3):c.*518G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914721	NM_178138.6(LHX3):c.*570C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914720	NM_178138.6(LHX3):c.*637T>C	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914719	NM_178138.6(LHX3):c.*692C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914718	NM_178138.6(LHX3):c.*715C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914279	NM_178138.6(LHX3):c.966C>T (p.Ala322=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914278	NM_178138.6(LHX3):c.1024A>G (p.Thr342Ala)	LHX3 (T331A +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914277	NM_178138.6(LHX3):c.1092C>A (p.Asn364Lys)	LHX3 (N364K +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914236	NM_178138.6(LHX3):c.*719C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 914235	NM_178138.6(LHX3):c.*747C>G	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GLikely benign
Select item 914234	NM_178138.6(LHX3):c.*780C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913184	NM_178138.6(LHX3):c.79+1888G>A	LHX3	Single nucleotide variant (5 prime UTR variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913183	NM_178138.6(LHX3):c.79+1904C>T	LHX3 (R4C)	Single nucleotide variant (missense variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GUncertain significance
Select item 913182	NM_178138.6(LHX3):c.79+1927G>A	LHX3	Single nucleotide variant (synonymous variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 913131	NM_178138.6(LHX3):c.*31C>G	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913130	NM_178138.6(LHX3):c.*140G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913129	NM_178138.6(LHX3):c.*237G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 913085	NM_178138.6(LHX3):c.*1063C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912817	NM_178138.6(LHX3):c.413G>T (p.Arg138Leu)	LHX3 (R143L +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912773	NM_178138.6(LHX3):c.*309C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912772	NM_178138.6(LHX3):c.*403T>C	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912771	NM_178138.6(LHX3):c.*437G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912770	NM_178138.6(LHX3):c.*456G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 912769	NM_178138.6(LHX3):c.*517C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 798915	NM_178138.6(LHX3):c.919C>A (p.Arg307=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 792158	NM_178138.6(LHX3):c.87G>A (p.Pro29=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765894	NM_178138.6(LHX3):c.915G>A (p.Gln305=)	LHX3	Single nucleotide variant (synonymous variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 763063	NM_178138.6(LHX3):c.804G>C (p.Pro268=)	LHX3	Single nucleotide variant (synonymous variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 753609	NM_178138.6(LHX3):c.251+9C>T	LHX3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 752701	NM_178138.6(LHX3):c.93C>T (p.Cys31=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744739	NM_178138.6(LHX3):c.534C>T (p.Thr178=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726878	NM_178138.6(LHX3):c.582G>C (p.Thr194=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 709265	NM_178138.6(LHX3):c.79+1935C>G	LHX3 (A14G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 592096	NM_178138.6(LHX3):c.112A>G (p.Ile38Val)	LHX3 (I38V +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 514235	NM_178138.6(LHX3):c.252-4G>T	LHX3	Single nucleotide variant (intron variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +2 more	GConflicting classifications of pathogenicity
Select item 508129	NM_178138.6(LHX3):c.108G>A (p.Gln36=)	LHX3	Single nucleotide variant (synonymous variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GBenign/Likely benign
Select item 449975	NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)	LHX3 (A322T +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 365827	NM_178138.6(LHX3):c.79+1813G>C	LHX3	Single nucleotide variant (5 prime UTR variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GConflicting classifications of pathogenicity
Select item 365826	NM_178138.6(LHX3):c.79+1814G>T	LHX3	Single nucleotide variant (5 prime UTR variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GLikely benign
Select item 365825	NM_178138.6(LHX3):c.79+1829G>A	LHX3	Single nucleotide variant (5 prime UTR variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365824	NM_178138.6(LHX3):c.79+1862A>G	LHX3	Single nucleotide variant (5 prime UTR variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365823	NM_178138.6(LHX3):c.79+1967C>A	LHX3	Single nucleotide variant (synonymous variant +1 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 365822	NM_178138.6(LHX3):c.145C>T (p.Arg49Cys)	LHX3 (R49C +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365821	NM_178138.6(LHX3):c.441C>T (p.Thr147=)	LHX3	Single nucleotide variant (synonymous variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 365820	NM_178138.6(LHX3):c.454+3C>T	LHX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 365819	NM_178138.6(LHX3):c.737A>G (p.Gln246Arg)	LHX3 (Q251R +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365818	NM_178138.6(LHX3):c.776-15C>A	LHX3	Single nucleotide variant (intron variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 365817	NM_178138.6(LHX3):c.860C>T (p.Ser287Leu)	LHX3 (S287L +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GUncertain significance
Select item 365815	NM_178138.6(LHX3):c.1092C>T (p.Asn364=)	LHX3	Single nucleotide variant (synonymous variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 365814	NM_178138.6(LHX3):c.*9C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365813	NM_178138.6(LHX3):c.*32G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365812	NM_178138.6(LHX3):c.*55G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365810	NM_178138.6(LHX3):c.*161C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365809	NM_178138.6(LHX3):c.*185T>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GBenign
Select item 365808	NM_178138.6(LHX3):c.*357G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365807	NM_178138.6(LHX3):c.*409G>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365806	NM_178138.6(LHX3):c.*501A>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365805	NM_178138.6(LHX3):c.*554C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365804	NM_178138.6(LHX3):c.*582G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365803	NM_178138.6(LHX3):c.*638G>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365802	NM_178138.6(LHX3):c.*773G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365801	NM_178138.6(LHX3):c.*790C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365800	NM_178138.6(LHX3):c.*791G>A	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GLikely benign
Select item 365799	NM_178138.6(LHX3):c.*825C>A	LHX3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365798	NM_178138.6(LHX3):c.*857C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365797	NM_178138.6(LHX3):c.*956C>T	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 365796	NM_178138.6(LHX3):c.*1031A>G	LHX3	Single nucleotide variant (3 prime UTR variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GUncertain significance
Select item 285791	NM_178138.6(LHX3):c.80-10G>A	LHX3	Single nucleotide variant (intron variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GUncertain significance
Select item 282585	NM_178138.6(LHX3):c.198C>G (p.Ala66=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279837	NM_178138.6(LHX3):c.920G>C (p.Arg307Pro)	LHX3 (R307P +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GConflicting classifications of pathogenicity
Select item 279836	NM_178138.6(LHX3):c.79+1902C>T	LHX3 (A3V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198211	NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)	LHX3 (R310P +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 193373	NM_178138.6(LHX3):c.79+2007T>C	LHX3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 193372	NM_178138.6(LHX3):c.79+1975G>A	LHX3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 9029	NM_178138.6(LHX3):c.133A>T (p.Lys45Ter)	LHX3 (K50* +2 more)	Single nucleotide variant (nonsense)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9028	NM_178138.6(LHX3):c.80-530_776-454del	LHX3	Deletion (splice acceptor variant +2 more)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9027	NM_178138.6(LHX3):c.672G>A (p.Trp224Ter)	LHX3 (W224* +2 more)	Single nucleotide variant (nonsense)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9026	NC_000009.12:g.(?_136197325)_(136205012_?)del	LHX3	Deletion	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9025	NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs)	LHX3 (G101fs +2 more)	Indel (frameshift variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9024	NM_178138.6(LHX3):c.629C>T (p.Ala210Val)	LHX3 (A210V +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9023	NM_178138.6(LHX3):c.96del (p.Gly33fs)	LHX3 (G38fs +2 more)	Deletion (frameshift variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9022	NM_178138.6(LHX3):c.452_454+20del	LHX3	Deletion (splice donor variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic
Select item 9021	NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys)	LHX3 (Y116C +2 more)	Single nucleotide variant (missense variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities	GPathogenic

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Items: 100