5328[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +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 152649	GRCh38/hg38 10q22.2(chr10:73881750-73942272)x1	C10orf55, LOC126860958 +7 more	Copy number loss	See cases	GLikely benign
Select item 29921	NC_000010.9:g.75329022_75406959dup	C10orf55, LOC110121485 +10 more	Duplication	Quebec platelet disorder	GPathogenic
Select item 300733	NM_002658.6(PLAU):c.-41G>A	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GUncertain significance
Select item 300734	NM_002658.6(PLAU):c.-32G>A	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GUncertain significance
Select item 300735	NM_002658.6(PLAU):c.-32+9C>G	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder +1 more	GUncertain significance
Select item 1237018	NM_002658.6(PLAU):c.-31-121G>T	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 300736	NM_002658.6(PLAU):c.-25C>T	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder +1 more	GBenign/Likely benign
Select item 300737	NM_002658.6(PLAU):c.-20A>G	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GBenign
Select item 300738	NM_002658.6(PLAU):c.-18C>A	C10orf55, LOC130004104 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder +1 more	GBenign
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 300740	NM_002658.6(PLAU):c.43G>T (p.Val15Leu)	C10orf55, LOC130004104 +1 more (V15L)	Single nucleotide variant (non-coding transcript variant +2 more)	Quebec platelet disorder +1 more	GBenign
Select item 300741	NM_002658.6(PLAU):c.57+6T>C	C10orf55, LOC130004104 +1 more	Single nucleotide variant (intron variant +2 more)	Quebec platelet disorder	GLikely benign
Select item 1240521	NM_002658.6(PLAU):c.85+49G>A	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3060083	NR_160937.1(C10orf55):n.499C>A	C10orf55, PLAU	Single nucleotide variant (non-coding transcript variant +2 more)	C10orf55-related disorder	GLikely benign
Select item 3355195	NM_002658.6(PLAU):c.98G>C (p.Cys33Ser)	C10orf55, PLAU (C16S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	PLAU-related disorder	GUncertain significance
Select item 300742	NM_002658.6(PLAU):c.111A>G (p.Gly37=)	C10orf55, PLAU	Single nucleotide variant (non-coding transcript variant +2 more)	Quebec platelet disorder	GBenign
Select item 880362	NM_002658.6(PLAU):c.143T>A (p.Ile48Asn)	C10orf55, PLAU (I31N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Quebec platelet disorder	GUncertain significance
Select item 300743	NM_002658.6(PLAU):c.162A>G (p.Pro54=)	C10orf55, PLAU	Single nucleotide variant (synonymous variant +1 more)	Quebec platelet disorder +1 more	GBenign/Likely benign
Select item 300744	NM_002658.6(PLAU):c.163A>G (p.Lys55Glu)	C10orf55, PLAU (K55E +1 more)	Single nucleotide variant (missense variant +1 more)	Quebec platelet disorder	GBenign
Select item 190258	NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)	PLAU, C10orf55 (G58R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1287381	NM_002658.6(PLAU):c.193+297_193+298insT	C10orf55, PLAU	Insertion (intron variant)	not provided	GBenign
Select item 1228101	NM_002658.6(PLAU):c.193+298G>T	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183359	NM_002658.6(PLAU):c.194-207A>G	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055508	NC_000010.11:g.73912917C>G	C10orf55, PLAU	Single nucleotide variant (intron variant)	C10orf55-related disorder	GLikely benign
Select item 877591	NM_002658.6(PLAU):c.194A>G (p.Asp65Gly)	C10orf55, PLAU (D48G +1 more)	Single nucleotide variant (missense variant +1 more)	Quebec platelet disorder	GUncertain significance
Select item 877592	NM_002658.6(PLAU):c.236G>C (p.Arg79Pro)	C10orf55, PLAU (R62P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Quebec platelet disorder	GLikely benign
Select item 300745	NM_002658.6(PLAU):c.236G>A (p.Arg79Gln)	C10orf55, PLAU (R62Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Quebec platelet disorder	GBenign
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 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 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 3339579	NM_002658.6(PLAU):c.351G>A (p.Gly117=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 1295119	NM_002658.6(PLAU):c.369-87G>A	C10orf55, LOC126860960 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 12265	NM_002658.6(PLAU):c.422= (p.Leu141=)	LOC126860960, PLAU +1 more	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 3057907	NM_002658.6(PLAU):c.423G>A (p.Leu141=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	PLAU-related 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 +1 more	GBenign/Likely benign
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 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 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 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 878609	NM_002658.6(PLAU):c.559A>G (p.Ile187Val)	C10orf55, LOC126860960 +1 more (I187V +2 more)	Single nucleotide variant (missense variant)	not specified +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 300750	NM_002658.6(PLAU):c.581C>T (p.Ala194Val)	C10orf55, LOC126860960 +1 more (A177V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 3307277	NM_002658.6(PLAU):c.608G>C (p.Gly203Ala)	C10orf55, LOC126860960 +1 more (G203A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 300753	NM_002658.6(PLAU):c.691A>C (p.Lys231Gln)	C10orf55, LOC126860960 +1 more (K214Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 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 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 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 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 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 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 300756	NM_002658.6(PLAU):c.822C>T (p.Asn274=)	C10orf55, LOC126860960 +1 more	Single nucleotide variant (synonymous variant)	Quebec platelet disorder +1 more	GBenign
Select item 3307275	NM_002658.6(PLAU):c.827T>C (p.Ile276Thr)	C10orf55, LOC126860960 +1 more (I190T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 879209	NM_002658.6(PLAU):c.830-13T>C	C10orf55, PLAU	Single nucleotide variant (intron variant)	Quebec platelet disorder	GBenign
Select item 879210	NM_002658.6(PLAU):c.845G>A (p.Arg282His)	C10orf55, PLAU (R196H +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GUncertain significance
Select item 2637149	NM_002658.6(PLAU):c.861G>T (p.Arg287Ser)	C10orf55, PLAU (R201S +2 more)	Single nucleotide variant (missense variant)	PLAU-related disorder +1 more	GUncertain significance
Select item 300757	NM_002658.6(PLAU):c.878G>A (p.Arg293Gln)	C10orf55, PLAU (R276Q +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
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 1227450	NM_002658.6(PLAU):c.970+66C>T	C10orf55, PLAU	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 880408	NM_002658.6(PLAU):c.972C>T (p.Thr324=)	C10orf55, PLAU	Single nucleotide variant (synonymous variant)	Quebec platelet disorder	GBenign
Select item 3064536	NM_002658.6(PLAU):c.983A>G (p.Tyr328Cys)	C10orf55, PLAU (Y242C +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	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 3307276	NM_002658.6(PLAU):c.1028G>A (p.Arg343Gln)	C10orf55, PLAU (R326Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 300758	NM_002658.6(PLAU):c.1048T>C (p.Tyr350His)	C10orf55, PLAU (Y350H +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder +1 more	GBenign/Likely benign
Select item 300759	NM_002658.6(PLAU):c.1053C>T (p.Tyr351=)	C10orf55, PLAU	Single nucleotide variant (synonymous variant)	Quebec platelet disorder	GBenign
Select item 300760	NM_002658.6(PLAU):c.1092C>T (p.Asp364=)	C10orf55, PLAU	Single nucleotide variant (synonymous variant)	Quebec platelet disorder +1 more	GBenign
Select item 3336089	NM_002658.6(PLAU):c.1120-14C>G	C10orf55, PLAU	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 880409	NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu)	C10orf55, PLAU (R312L +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 752927	NM_002658.6(PLAU):c.1221C>T (p.Gly407=)	C10orf55, PLAU	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 300761	NM_002658.6(PLAU):c.1222G>A (p.Val408Ile)	C10orf55, PLAU (V391I +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	GBenign
Select item 1029617	NM_002658.6(PLAU):c.1229C>T (p.Thr410Met)	C10orf55, PLAU (T393M +2 more)	Single nucleotide variant (missense variant)	Quebec platelet disorder	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
Select item 300762	NM_002658.6(PLAU):c.*3G>A	C10orf55, PLAU	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GUncertain significance
Select item 300763	NM_002658.6(PLAU):c.*52T>A	C10orf55, PLAU	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GBenign
Select item 300764	NM_002658.6(PLAU):c.*60A>C	PLAU, C10orf55	Single nucleotide variant (non-coding transcript variant +1 more)	Quebec platelet disorder	GBenign
Select item 300765	NM_002658.6(PLAU):c.*141C>T	C10orf55, PLAU	Single nucleotide variant (3 prime UTR variant)	Quebec platelet disorder +1 more	GBenign
Select item 300766	NM_002658.6(PLAU):c.*176G>T	C10orf55, PLAU	Single nucleotide variant (3 prime UTR variant)	Quebec platelet disorder	GUncertain significance
Select item 300767	NM_002658.6(PLAU):c.*266T>C	PLAU, C10orf55	Single nucleotide variant (3 prime UTR variant)	Quebec platelet disorder	GBenign
Select item 877647	NM_002658.6(PLAU):c.*309T>C	C10orf55, PLAU	Single nucleotide variant (3 prime UTR variant)	Quebec platelet disorder	GUncertain significance
Select item 300768	NM_002658.6(PLAU):c.*335G>A	C10orf55, PLAU	Single nucleotide variant (3 prime UTR variant)	Quebec platelet disorder	GBenign

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