P2RX1[gene] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	MIR22HG, MIR3183 +464 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	HIC1, INPP5K +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	UBE2G1, USP6 +304 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 151168	GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3	ANKFY1, ATP2A3 +50 more	Copy number gain	See cases	GUncertain significance
Select item 1277568	NM_002558.4(P2RX1):c.*113A>G	P2RX1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1229012	NM_002558.4(P2RX1):c.*85C>T	P2RX1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1268219	NM_002558.4(P2RX1):c.*28G>A	P2RX1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 786300	NM_002558.4(P2RX1):c.1186A>G (p.Met396Val)	P2RX1 (M396V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2476722	NM_002558.4(P2RX1):c.1151C>T (p.Ala384Val)	P2RX1 (A384V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053327	NM_002558.4(P2RX1):c.1142G>A (p.Arg381His)	P2RX1 (R381H)	Single nucleotide variant (missense variant)	P2RX1-related condition	GLikely benign
Select item 721195	NM_002558.4(P2RX1):c.1135-9C>T	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787130	NM_002558.4(P2RX1):c.1110C>T (p.Tyr370=)	P2RX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2262411	NM_002558.4(P2RX1):c.1072C>T (p.Pro358Ser)	P2RX1 (P358S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8750	NM_002558.4(P2RX1):c.1053GCT[2] (p.Leu354del)	P2RX1 (L354del)	Microsatellite (inframe_deletion)	Platelet-type bleeding disorder 8	GUncertain significance
Select item 1228110	NM_002558.4(P2RX1):c.1033-30C>T	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3050468	NM_002558.4(P2RX1):c.1005C>T (p.Ile335=)	P2RX1	Single nucleotide variant (synonymous variant)	P2RX1-related condition	GBenign
Select item 2233795	NM_002558.4(P2RX1):c.961G>A (p.Gly321Ser)	P2RX1 (G321S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239632	NM_002558.4(P2RX1):c.919C>T (p.Leu307Phe)	P2RX1 (L307F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405951	NM_002558.4(P2RX1):c.892G>A (p.Val298Met)	P2RX1 (V298M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347350	NM_002558.4(P2RX1):c.860C>T (p.Pro287Leu)	P2RX1 (P287L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034587	NM_002558.4(P2RX1):c.840C>T (p.Tyr280=)	P2RX1	Single nucleotide variant (synonymous variant)	P2RX1-related condition	GLikely benign
Select item 2553016	NM_002558.4(P2RX1):c.799G>A (p.Val267Ile)	P2RX1 (V267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 765060	NM_002558.4(P2RX1):c.748-8C>A	P2RX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2298970	NM_002558.4(P2RX1):c.719G>A (p.Gly240Asp)	P2RX1 (G240D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054650	NM_002558.4(P2RX1):c.714G>A (p.Glu238=)	P2RX1	Single nucleotide variant (synonymous variant)	P2RX1-related condition	GLikely benign
Select item 2591296	NM_002558.4(P2RX1):c.640A>G (p.Met214Val)	P2RX1 (M214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1248529	NM_002558.4(P2RX1):c.606-27A>T	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265880	NM_002558.4(P2RX1):c.605+51G>C	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2371913	NM_002558.4(P2RX1):c.585T>A (p.Phe195Leu)	P2RX1 (F195L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403324	NM_002558.4(P2RX1):c.539G>A (p.Arg180Gln)	P2RX1 (R180Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1287676	NM_002558.4(P2RX1):c.525-119A>G	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2508919	NM_002558.4(P2RX1):c.511G>A (p.Asp171Asn)	P2RX1 (D171N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369516	NM_002558.4(P2RX1):c.460G>A (p.Asp154Asn)	P2RX1 (D154N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048389	NM_002558.4(P2RX1):c.438G>A (p.Thr146=)	P2RX1	Single nucleotide variant (synonymous variant)	P2RX1-related condition	GLikely benign
Select item 2271772	NM_002558.4(P2RX1):c.428G>A (p.Gly143Asp)	P2RX1 (G143D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035960	NM_002558.4(P2RX1):c.428-4C>T	P2RX1	Single nucleotide variant (intron variant)	P2RX1-related condition	GLikely benign
Select item 1247257	NM_002558.4(P2RX1):c.357+120T>C	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2273530	NM_002558.4(P2RX1):c.350G>A (p.Cys117Tyr)	P2RX1 (C117Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359373	NM_002558.4(P2RX1):c.286G>A (p.Gly96Arg)	P2RX1 (G96R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394194	NM_002558.4(P2RX1):c.271G>A (p.Val91Ile)	P2RX1 (V91I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362179	NM_002558.4(P2RX1):c.227A>G (p.Gln76Arg)	P2RX1 (Q76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487130	NM_002558.4(P2RX1):c.181C>T (p.Leu61Phe)	P2RX1 (L61F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054973	NM_002558.4(P2RX1):c.174G>T (p.Ser58=)	P2RX1	Single nucleotide variant (synonymous variant)	P2RX1-related condition	GLikely benign
Select item 2520970	NM_002558.4(P2RX1):c.173C>G (p.Ser58Trp)	P2RX1 (S58W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237032	NM_002558.4(P2RX1):c.163T>A (p.Tyr55Asn)	P2RX1 (Y55N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044871	NM_002558.4(P2RX1):c.138-6G>A	P2RX1	Single nucleotide variant (intron variant)	P2RX1-related condition	GLikely benign
Select item 3054273	NM_002558.4(P2RX1):c.138-7C>T	P2RX1	Single nucleotide variant (intron variant)	P2RX1-related condition	GLikely benign
Select item 1267635	NM_002558.4(P2RX1):c.138-52A>G	P2RX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2632501	NM_002558.4(P2RX1):c.73C>T (p.Arg25Cys)	P2RX1 (R25C)	Single nucleotide variant (missense variant)	P2RX1-related condition	GUncertain significance
Select item 3037761	NM_002558.4(P2RX1):c.72G>A (p.Val24=)	P2RX1	Single nucleotide variant (synonymous variant)	P2RX1-related condition	GLikely benign
Select item 2634515	NM_002558.4(P2RX1):c.58C>T (p.Arg20Cys)	P2RX1 (R20C)	Single nucleotide variant (missense variant)	P2RX1-related condition	GUncertain significance
Select item 3041991	NM_002558.4(P2RX1):c.31G>A (p.Ala11Thr)	P2RX1 (A11T)	Single nucleotide variant (missense variant)	P2RX1-related condition	GLikely benign
Select item 2300836	NM_002558.4(P2RX1):c.7C>G (p.Arg3Gly)	P2RX1 (R3G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1249572	NC_000017.11:g.3916706A>G	P2RX1	Single nucleotide variant	not provided	GBenign
Select item 1262824	NC_000017.11:g.3916870A>C	P2RX1	Single nucleotide variant	not provided	GBenign
Select item 1288458	NC_000017.11:g.3916945G>C	P2RX1	Single nucleotide variant	not provided	GBenign
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	OR1E2, OR1G1 +26 more	Deletion	not provided	GPathogenic
Select item 1340632	GRCh37/hg19 17p13.2(chr17:3652068-3872306)x3	ATP2A3, CAMKK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 972966	GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3	ATP2A3, CAMKK1 +9 more	Copy number gain	not provided	Gnot provided
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 687161	GRCh37/hg19 17p13.2(chr17:3785678-4162530)x3	ANKFY1, ATP2A3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564391	GRCh37/hg19 17p13.2(chr17:3737355-4266446)x3	CYB5D2, NCBP3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 443023	GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1	ABR, ASPA +68 more	Copy number loss	See cases	GPathogenic
Select item 442031	GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3	ABR, ANKFY1 +72 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441650	GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3	ATP2A3, CAMKK1 +9 more	Copy number gain	See cases	GLikely benign
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394657	GRCh37/hg19 17p13.2(chr17:3801316-3853787)x3	ATP2A3, P2RX1	Copy number gain	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic

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Items: 89