"GeneDx"[submitter] AND "PROP1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 353010	NM_006261.5(PROP1):c.*123T>C	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1810604	NM_006261.5(PROP1):c.*120C>T	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 353011	NM_006261.5(PROP1):c.*52G>A	PROP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196432	NM_006261.5(PROP1):c.425C>T (p.Ala142Val)	PROP1 (A142V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196434	NM_006261.5(PROP1):c.424G>A (p.Ala142Thr)	PROP1 (A142T)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign
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 1220283	NM_006261.5(PROP1):c.343-268T>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247268	NM_006261.5(PROP1):c.342+142T>C	PROP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 451854	NM_006261.5(PROP1):c.220A>T (p.Thr74Ser)	PROP1 (T74S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 36699	NM_006261.5(PROP1):c.174G>A (p.Pro58=)	PROP1	Single nucleotide variant (synonymous variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign/Likely benign
Select item 742937	NM_006261.5(PROP1):c.152G>T (p.Gly51Val)	PROP1 (G51V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1228459	NM_006261.5(PROP1):c.110-58G>C	PROP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206685	NM_006261.5(PROP1):c.110-107T>C	PROP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222425	NM_006261.5(PROP1):c.109+290C>G	PROP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281774	NM_006261.5(PROP1):c.109+223T>C	PROP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353016	NM_006261.5(PROP1):c.109+3G>A	PROP1	Single nucleotide variant (intron variant)	Pituitary hormone deficiency, combined, 2 +2 more	GBenign
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
Select item 353019	NM_006261.5(PROP1):c.-210A>C	PROP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 353021	NM_006261.5(PROP1):c.-302G>A	PROP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1225864	NC_000005.10:g.177996280C>A	PROP1	Single nucleotide variant	not provided	GBenign

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Items: 27