ClinVar for Gene (Select 126860960) - ClinVar

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

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057907	NM_002658.6(PLAU):c.423G>A (p.Leu141=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	PLAU-related condition	GLikely benign
Select item 2582777	NM_002658.6(PLAU):c.539T>C (p.Ile180Thr)	C10orf55, LOC126860960 +1 more (I163T +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2434918	NM_002658.6(PLAU):c.548A>G (p.Glu183Gly)	C10orf55, LOC126860960 +1 more (E166G +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	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)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases	GUncertain significance
Select item 2256174	NM_002658.6(PLAU):c.527G>A (p.Arg176His)	C10orf55, LOC126860960 +1 more (R159H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 1696678	NM_002658.6(PLAU):c.467dup (p.Pro157fs)	C10orf55, LOC126860960 +1 more (P140fs +2 more)	Duplication (frameshift variant)	Quebec platelet disorder	GUncertain significance
Select item 1295119	NM_002658.6(PLAU):c.369-87G>A	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257246	NM_002658.6(PLAU):c.680+80C>T	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 879208	NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)	C10orf55, LOC126860960 +1 more (N159K +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 878608	NM_002658.6(PLAU):c.453C>T (p.Cys151=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	Quebec platelet disorder	GLikely benign
Select item 878607	NM_002658.6(PLAU):c.445C>T (p.His149Tyr)	C10orf55, LOC126860960 +1 more (H132Y +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 793048	NM_002658.6(PLAU):c.744G>A (p.Thr248=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 300756	NM_002658.6(PLAU):c.822C>T (p.Asn274=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 300755	NM_002658.6(PLAU):c.750G>C (p.Gly250=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	Quebec platelet disorder	GUncertain significance
Select item 300754	NM_002658.6(PLAU):c.706A>G (p.Ile236Val)	C10orf55, LOC126860960 +1 more (I236V +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 300753	NM_002658.6(PLAU):c.691A>C (p.Lys231Gln)	C10orf55, LOC126860960 +1 more (K214Q +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 300752	NM_002658.6(PLAU):c.681-7C>T	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	Quebec platelet disorder +1 more	GBenign
Select item 300751	NM_002658.6(PLAU):c.602G>T (p.Arg201Leu)	C10orf55, LOC126860960 +1 more (R184L +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 300750	NM_002658.6(PLAU):c.581C>T (p.Ala194Val)	C10orf55, LOC126860960 +1 more (A177V +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 300749	NM_002658.6(PLAU):c.581C>A (p.Ala194Glu)	C10orf55, LOC126860960 +1 more (A177E +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GUncertain significance
Select item 300748	NM_002658.6(PLAU):c.368+6G>C	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	Quebec platelet disorder	GUncertain significance
Select item 300747	NM_002658.6(PLAU):c.316G>C (p.Ala106Pro)	C10orf55, LOC126860960 +1 more (A106P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GUncertain significance
Select item 300746	NM_002658.6(PLAU):c.308C>T (p.Thr103Met)	C10orf55, LOC126860960 +1 more (T103M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GBenign
Select item 152649	GRCh38/hg38 10q22.2(chr10:73881750-73942272)x1	C10orf55, LOC126860958 +7 more	Copy number loss	See cases	GLikely benign
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC126860963, LOC126860964 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	ADAMTS14, ADK +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	ADAMTS14, ADK +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 29921	NC_000010.9:g.75329022_75406959dup	C10orf55, LOC110121485 +10 more	Duplication	Quebec platelet disorder	GPathogenic
Select item 12265	NM_002658.6(PLAU):c.422= (p.Leu141=)	PLAU, C10orf55 +1 more	Single nucleotide variant (no sequence alteration)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37