"Ambry Genetics"[submitter] AND "PLAU"[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300739	NM_002658.6(PLAU):c.17C>A (p.Ala6Glu)	C10orf55, LOC130004104 +1 more (A6E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2470631	NM_002658.6(PLAU):c.190A>T (p.Ile64Leu)	C10orf55, PLAU (I47L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255298	NM_002658.6(PLAU):c.260T>C (p.Met87Thr)	C10orf55, PLAU (M1T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3214307	NM_002658.6(PLAU):c.383G>A (p.Arg128Gln)	C10orf55, LOC126860960 +1 more (R42Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256174	NM_002658.6(PLAU):c.527G>A (p.Arg176His)	C10orf55, LOC126860960 +1 more (R159H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582777	NM_002658.6(PLAU):c.539T>C (p.Ile180Thr)	C10orf55, LOC126860960 +1 more (I163T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 878609	NM_002658.6(PLAU):c.559A>G (p.Ile187Val)	C10orf55, LOC126860960 +1 more (I187V +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder +1 more	GConflicting classifications of pathogenicity
Select item 3214308	NM_002658.6(PLAU):c.571C>A (p.Pro191Thr)	C10orf55, LOC126860960 +1 more (P105T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529755	NM_002658.6(PLAU):c.571C>T (p.Pro191Ser)	C10orf55, LOC126860960 +1 more (P174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284951	NM_002658.6(PLAU):c.587T>C (p.Ile196Thr)	C10orf55, LOC126860960 +1 more (I110T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455752	NM_002658.6(PLAU):c.601C>T (p.Arg201Trp)	C10orf55, LOC126860960 +1 more (R115W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511715	NM_002658.6(PLAU):c.721C>T (p.Arg241Cys)	C10orf55, LOC126860960 +1 more (R241C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247630	NM_002658.6(PLAU):c.724T>C (p.Ser242Pro)	C10orf55, LOC126860960 +1 more (S156P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214309	NM_002658.6(PLAU):c.745C>A (p.Gln249Lys)	C10orf55, LOC126860960 +1 more (Q163K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434917	NM_002658.6(PLAU):c.754A>T (p.Met252Leu)	C10orf55, LOC126860960 +1 more (M166L +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder +1 more	GUncertain significance
Select item 2373792	NM_002658.6(PLAU):c.902C>T (p.Pro301Leu)	C10orf55, PLAU (P301L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214302	NM_002658.6(PLAU):c.1007T>C (p.Val336Ala)	C10orf55, PLAU (V319A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214304	NM_002658.6(PLAU):c.1041G>C (p.Gln347His)	C10orf55, PLAU (Q261H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509510	NM_002658.6(PLAU):c.1159C>T (p.Arg387Cys)	C10orf55, PLAU (R387C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214305	NM_002658.6(PLAU):c.1234G>C (p.Val412Leu)	C10orf55, PLAU (V412L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214306	NM_002658.6(PLAU):c.1259G>A (p.Arg420His)	C10orf55, PLAU (R334H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign

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: 21