C0878683[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552012	NM_006261.5(PROP1):c.652dup (p.Ser218fs)	PROP1 (S218fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 557462	NM_006261.5(PROP1):c.629dup (p.Pro211fs)	PROP1 (P211fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GConflicting classifications of pathogenicity
Select item 557824	NM_006261.5(PROP1):c.611del (p.Gly204fs)	PROP1 (G204fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GConflicting classifications of pathogenicity
Select item 8107	NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)	PROP1 (W194*)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 2	GPathogenic/Likely pathogenic
Select item 371561	NM_006261.5(PROP1):c.557del (p.Ala186fs)	PROP1 (A186fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 371125	NM_006261.5(PROP1):c.390_391del (p.Leu131fs)	PROP1 (L131fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 557236	NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)	PROP1 (S130fs)	Microsatellite (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic/Likely pathogenic
Select item 552692	NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)	PROP1 (R125W)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +1 more	GConflicting classifications of pathogenicity
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 371145	NM_006261.5(PROP1):c.343-2A>T	PROP1	Single nucleotide variant (splice acceptor variant +1 more)	Pituitary hormone deficiency, combined, 2	GPathogenic/Likely pathogenic
Select item 553577	NM_006261.5(PROP1):c.342+1G>A	PROP1	Single nucleotide variant (splice donor variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 558722	NM_006261.5(PROP1):c.340C>T (p.Gln114Ter)	PROP1 (Q114*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 189062	NM_006261.5(PROP1):c.310del (p.Arg104fs)	PROP1 (R104fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8106	NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)	PROP1 (R99Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 8105	NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)	PROP1 (R99*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 370872	NM_006261.5(PROP1):c.288_289del (p.Ile96fs)	PROP1 (I96fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely 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 371631	NM_006261.5(PROP1):c.197dup (p.His67fs)	PROP1 (H67fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 551422	NM_006261.5(PROP1):c.191dup (p.Arg65fs)	PROP1 (R65fs)	Duplication (frameshift variant)	Pituitary hormone deficiency, combined, 2	GLikely pathogenic
Select item 557212	NM_006261.5(PROP1):c.156dup (p.Arg53fs)	PROP1 (R53fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188820	NM_006261.5(PROP1):c.152G>C (p.Gly51Ala)	PROP1 (G51A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 8101	NM_006261.5(PROP1):c.112_124del (p.Ser38fs)	PROP1 (S38fs)	Deletion (frameshift variant)	Pituitary hormone deficiency, combined, 2 +1 more	GPathogenic
Select item 370889	NM_006261.5(PROP1):c.110-2A>G	PROP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 557723	NM_006261.5(PROP1):c.74_75dup (p.His26fs)	PROP1 (H26fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555076	NM_006261.5(PROP1):c.37AAG[1] (p.Lys14del)	PROP1 (K14del)	Microsatellite (inframe_deletion)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 552210	NM_006261.5(PROP1):c.20_22dup (p.Arg7dup)	PROP1	Duplication (inframe_insertion)	Pituitary hormone deficiency, combined, 2	GUncertain significance
Select item 551288	NM_006261.5(PROP1):c.2T>C (p.Met1Thr)	PROP1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 29