P2RY11[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 180727	NM_002566.4(P2RY11):c.-203A>G	PPAN, PPAN-P2RY11 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Cataplexy and narcolepsy	Gassociation
Select item 779371	NM_002566.5(P2RY11):c.13G>A (p.Val5Ile)	P2RY11, PPAN +1 more (V5I)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 777414	NM_002566.5(P2RY11):c.141C>A (p.Gly47=)	PPAN-P2RY11, LOC113939967 +1 more (A488D)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2649284	NM_002566.5(P2RY11):c.180A>G (p.Pro60=)	LOC113939967, P2RY11 +1 more (H501R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617020	NM_001040664.3(PPAN-P2RY11):c.1452C>T (p.Ala484=)	LOC113939967, P2RY11 +1 more (P505L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3041964	NM_001198690.2(PPAN-P2RY11):c.1520C>T (p.Ser507Phe)	LOC113939967, P2RY11 +1 more (S507F)	Single nucleotide variant (synonymous variant +1 more)	PPAN-P2RY11-related disorder	GLikely benign
Select item 709320	NM_002566.5(P2RY11):c.198C>A (p.Val66=)	LOC113939967, P2RY11 +1 more (S507Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3030630	NM_002566.5(P2RY11):c.207C>A (p.Val69=)	P2RY11, LOC113939967 +1 more (S510Y)	Single nucleotide variant (synonymous variant +1 more)	P2RY11-related disorder	GLikely benign
Select item 773603	NM_002566.5(P2RY11):c.234C>T (p.Cys78=)	LOC113939967, P2RY11 +1 more (A519V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2465258	NM_002566.5(P2RY11):c.250C>T (p.Pro84Ser)	LOC113939967, P2RY11 +1 more (P504S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749577	NM_002566.5(P2RY11):c.258C>T (p.Ala86=)	LOC113939967, P2RY11 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3059970	NM_002566.5(P2RY11):c.259G>A (p.Ala87Thr)	LOC113939967, P2RY11 +1 more (A507T +1 more)	Single nucleotide variant (missense variant +1 more)	P2RY11-related disorder	GBenign
Select item 725779	NM_002566.5(P2RY11):c.330C>T (p.Thr110=)	LOC113939967, P2RY11 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 746822	NM_002566.5(P2RY11):c.340C>T (p.Leu114=)	PPAN-P2RY11, LOC113939967 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779032	NM_002566.5(P2RY11):c.348C>T (p.Ser116=)	LOC113939967, P2RY11 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 758149	NM_002566.5(P2RY11):c.405C>T (p.Phe135=)	PPAN-P2RY11, P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2409160	NM_001040664.3(PPAN-P2RY11):c.1730C>T (p.Ala577Val)	P2RY11, PPAN-P2RY11 (A157V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044892	NM_002566.5(P2RY11):c.496A>G (p.Ser166Gly)	P2RY11, PPAN-P2RY11 (S166G +1 more)	Single nucleotide variant (missense variant +1 more)	P2RY11-related disorder	GLikely benign
Select item 3046390	NM_002566.5(P2RY11):c.555C>T (p.Pro185=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	P2RY11-related disorder	GLikely benign
Select item 777415	NM_002566.5(P2RY11):c.648G>A (p.Leu216=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3033213	NM_002566.5(P2RY11):c.675C>T (p.Tyr225=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	P2RY11-related disorder	GLikely benign
Select item 728169	NM_002566.5(P2RY11):c.684C>T (p.Leu228=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741233	NM_002566.5(P2RY11):c.723C>T (p.Ala241=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3047680	NM_001040664.3(PPAN-P2RY11):c.2004G>A (p.Ala668=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	PPAN-P2RY11-related disorder	GLikely benign
Select item 779033	NM_002566.5(P2RY11):c.771C>T (p.Tyr257=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771927	NM_002566.5(P2RY11):c.782A>G (p.Tyr261Cys)	P2RY11, PPAN-P2RY11 (Y681C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3040285	NM_001040664.3(PPAN-P2RY11):c.2074G>A (p.Val692Met)	P2RY11, PPAN-P2RY11 (V272M +1 more)	Single nucleotide variant (missense variant +1 more)	PPAN-P2RY11-related disorder	GLikely benign
Select item 731141	NM_002566.5(P2RY11):c.826C>T (p.Arg276Trp)	P2RY11, PPAN-P2RY11 (R696W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 716471	NM_002566.5(P2RY11):c.849G>A (p.Pro283=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3355491	NM_001040664.3(PPAN-P2RY11):c.2142C>A (p.Ala714=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	PPAN-P2RY11-related disorder	GLikely benign
Select item 728997	NM_002566.5(P2RY11):c.900C>G (p.Tyr300Ter)	P2RY11, PPAN-P2RY11 (Y300* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 3353037	NM_001040664.3(PPAN-P2RY11):c.2166C>T (p.Gly722=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	PPAN-P2RY11-related disorder	GLikely benign
Select item 3053248	NM_001040664.3(PPAN-P2RY11):c.2268C>T (p.Pro756=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	PPAN-P2RY11-related disorder	GLikely benign
Select item 786843	NM_002566.5(P2RY11):c.1019A>G (p.Asp340Gly)	P2RY11, PPAN-P2RY11 (D340G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774731	NM_002566.5(P2RY11):c.1046G>A (p.Ser349Asn)	P2RY11, PPAN-P2RY11 (S349N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 792899	NM_002566.5(P2RY11):c.1092G>A (p.Pro364=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 779041	NM_002566.5(P2RY11):c.1101C>G (p.Pro367=)	P2RY11, PPAN-P2RY11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 180728	NM_002566.4(P2RY11):c.*638G>A	EIF3G, P2RY11	Single nucleotide variant (intron variant)	Cataplexy and narcolepsy	Gassociation
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 560043	Single allele	ANGPTL6, EIF3G +5 more	Duplication	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 45