"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PROP1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8095	NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)	PROP1 (R120C)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 8096	NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)	PROP1 (F117I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 353014	NM_006261.5(PROP1):c.335G>A (p.Arg112Gln)	PROP1 (R112Q)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GUncertain significance
Select item 188982	NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)	PROP1 (R112*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 8098	NM_006261.5(PROP1):c.301_302del (p.Leu102fs)	PROP1 (L102fs)	Microsatellite (frameshift variant)	46,XY partial gonadal dysgenesis +3 more	GPathogenic/Likely pathogenic
Select item 8104	NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)	PROP1 (R73C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 288237	NM_006261.5(PROP1):c.52G>A (p.Gly18Ser)	PROP1 (G18S)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
Select item 905418	NM_006261.5(PROP1):c.46C>G (p.Arg16Gly)	PROP1 (R16G)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +2 more	GUncertain significance
Select item 353017	NM_006261.5(PROP1):c.27T>C (p.Ala9=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign