"Natera, Inc."[submitter] AND "LHX3"[gene] - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 737703	NM_178138.6(LHX3):c.1155C>T (p.Pro385=)	LHX3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 795409	NM_178138.6(LHX3):c.993G>A (p.Gln331=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449975	NM_178138.6(LHX3):c.964G>A (p.Ala322Thr)	LHX3 (A322T +2 more)	Single nucleotide variant (missense 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 798915	NM_178138.6(LHX3):c.919C>A (p.Arg307=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	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 799967	NM_178138.6(LHX3):c.819C>T (p.Tyr273=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734416	NM_178138.6(LHX3):c.804G>A (p.Pro268=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761414	NM_178138.6(LHX3):c.739G>A (p.Glu247Lys)	LHX3 (E247K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 747247	NM_178138.6(LHX3):c.705C>G (p.Arg235=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1067231	NM_178138.6(LHX3):c.607-3_630del	LHX3	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 726878	NM_178138.6(LHX3):c.582G>C (p.Thr194=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 773916	NM_178138.6(LHX3):c.555C>A (p.His185Gln)	LHX3 (H174Q +2 more)	Single nucleotide variant (missense 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 365820	NM_178138.6(LHX3):c.454+3C>T	LHX3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 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 1073213	NM_178138.6(LHX3):c.214C>T (p.Arg72Ter)	LHX3 (R61* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 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 752701	NM_178138.6(LHX3):c.93C>T (p.Cys31=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	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 1070291	NM_178138.6(LHX3):c.80-2A>G	LHX3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 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 669245	NM_178138.6(LHX3):c.79+1933G>C	LHX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28