ClinVar for MedGen (Select 906592) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3899943	NM_001374353.1(GLI2):c.2515del (p.Asp839fs)	GLI2 (D714fs +2 more)	Deletion (frameshift variant)	Combined pituitary hormone deficiencies, genetic form	GLikely pathogenic
Select item 3630033	NM_178138.6(LHX3):c.528C>G (p.Tyr176Ter)	LHX3 (Y165* +2 more)	Single nucleotide variant (nonsense)	Combined pituitary hormone deficiencies, genetic form	GPathogenic
Select item 2734543	NM_000306.4(POU1F1):c.793C>T (p.Arg265Trp)	POU1F1 (R265W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2258706	NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)	POU1F1 (R169* +1 more)	Single nucleotide variant (nonsense)	Combined pituitary hormone deficiencies, genetic form +1 more	GPathogenic
Select item 1417884	NM_003865.3(HESX1):c.350A>C (p.Gln117Pro)	HESX1 (Q117P)	Single nucleotide variant (missense variant)	Combined pituitary hormone deficiencies, genetic form +3 more	GConflicting classifications of pathogenicity
Select item 1067231	NM_178138.6(LHX3):c.607-3_630del	LHX3	Deletion (splice acceptor variant)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +2 more	GLikely pathogenic
Select item 1050485	NM_033343.4(LHX4):c.724_726del (p.Lys242del)	ACBD6, LHX4 +1 more (K242del)	Deletion (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely 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 799967	NM_178138.6(LHX3):c.819C>T (p.Tyr273=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 795409	NM_178138.6(LHX3):c.993G>A (p.Gln331=)	LHX3	Single nucleotide variant (synonymous variant)	not provided	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 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 761414	NM_178138.6(LHX3):c.739G>A (p.Glu247Lys)	LHX3 (E247K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 753609	NM_178138.6(LHX3):c.251+9C>T	LHX3	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 747247	NM_178138.6(LHX3):c.705C>G (p.Arg235=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 737703	NM_178138.6(LHX3):c.1155C>T (p.Pro385=)	LHX3	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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)	Non-acquired combined pituitary hormone deficiency with spine abnormalities +1 more	GBenign/Likely benign
Select item 279837	NM_178138.6(LHX3):c.920G>C (p.Arg307Pro)	LHX3 (R307P +2 more)	Single nucleotide variant (missense variant)	not provided +2 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 specified +2 more	GConflicting classifications of pathogenicity
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 36702	NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)	PROP1 (R16*)	Single nucleotide variant (nonsense)	PROP1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 36701	NM_006261.5(PROP1):c.359G>A (p.Arg120His)	PROP1 (R120H)	Single nucleotide variant (missense variant)	Combined pituitary hormone deficiencies, genetic form +2 more	GConflicting classifications of pathogenicity
Select item 36699	NM_006261.5(PROP1):c.174G>A (p.Pro58=)	PROP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 36694	NM_000306.4(POU1F1):c.143-4A>T	POU1F1 (T73S)	Single nucleotide variant (missense variant +1 more)	Combined pituitary hormone deficiencies, genetic form +1 more	GBenign
Select item 13614	NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)	POU1F1 (R172Q +1 more)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1 +2 more	GPathogenic/Likely pathogenic
Select item 13613	NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)	POU1F1 (E230K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13606	NM_000306.4(POU1F1):c.428G>A (p.Arg143Gln)	POU1F1 (R143Q +1 more)	Single nucleotide variant (missense variant)	Combined pituitary hormone deficiencies, genetic form	GPathogenic
Select item 9024	NM_178138.6(LHX3):c.629C>T (p.Ala210Val)	LHX3 (A210V +2 more)	Single nucleotide variant (missense variant)	Combined pituitary hormone deficiencies, genetic form	GLikely pathogenic
Select item 8106	NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	PROP1 (R99Q)	Single nucleotide variant (missense variant)	Combined pituitary hormone deficiencies, genetic form +3 more	GPathogenic/Likely pathogenic
Select item 8102	NM_006261.5(PROP1):c.150del (p.Arg53fs)	PROP1 (R53fs)	Deletion (frameshift variant)	See cases +3 more	GPathogenic
Select item 8098	NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	PROP1 (L102fs)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 36