P2RX2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 1266137	NC_000012.12:g.132618549C>A	P2RX2	Single nucleotide variant	not provided	GBenign
Select item 1219575	NC_000012.12:g.132618603_132618612del	P2RX2	Deletion	not provided	GLikely benign
Select item 1248415	NC_000012.12:g.132618725A>C	P2RX2	Single nucleotide variant	not provided	GBenign
Select item 1194871	NM_170682.4(P2RX2):c.-36T>A	P2RX2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 508567	NM_170682.4(P2RX2):c.-36T>C	P2RX2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 514570	NM_170682.4(P2RX2):c.-10C>T	P2RX2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 3303787	NM_170682.4(P2RX2):c.5C>T (p.Ala2Val)	P2RX2 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207619	NM_170682.4(P2RX2):c.7G>T (p.Ala3Ser)	P2RX2 (A3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 226991	NM_170682.4(P2RX2):c.9C>T (p.Ala3=)	P2RX2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2852889	NM_170682.4(P2RX2):c.35C>T (p.Ala12Val)	P2RX2 (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663327	NM_170682.4(P2RX2):c.39C>T (p.Thr13=)	P2RX2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2281239	NM_170682.4(P2RX2):c.40G>A (p.Ala14Thr)	P2RX2 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804404	NM_170682.4(P2RX2):c.40G>C (p.Ala14Pro)	P2RX2 (A14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737628	NM_170682.4(P2RX2):c.42C>T (p.Ala14=)	P2RX2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1953581	NM_170682.4(P2RX2):c.47G>T (p.Arg16Leu)	P2RX2 (R16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195462	NM_170682.4(P2RX2):c.56G>A (p.Arg19Gln)	P2RX2 (R19Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1723646	NM_170682.4(P2RX2):c.58G>A (p.Gly20Ser)	P2RX2 (G20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737145	NM_170682.4(P2RX2):c.62G>A (p.Cys21Tyr)	P2RX2 (C21Y)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2970572	NM_170682.4(P2RX2):c.64T>C (p.Trp22Arg)	P2RX2 (W22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045565	NM_170682.4(P2RX2):c.85G>T (p.Glu29Ter)	P2RX2 (E29*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1490285	NM_170682.4(P2RX2):c.97G>A (p.Val33Met)	P2RX2 (V33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551691	NM_170682.4(P2RX2):c.118C>A (p.Arg40Ser)	P2RX2 (R40S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3340149	NM_170682.4(P2RX2):c.121dup (p.Leu41fs)	P2RX2 (L41fs)	Duplication (frameshift variant +1 more)	Autosomal dominant nonsyndromic hearing loss	GLikely pathogenic
Select item 1570701	NM_170682.4(P2RX2):c.135C>T (p.Tyr45=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1966793	NM_170682.4(P2RX2):c.136C>A (p.Arg46Ser)	P2RX2 (R46S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 798012	NM_170682.4(P2RX2):c.138C>T (p.Arg46=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1329812	NM_170682.4(P2RX2):c.143T>G (p.Val48Gly)	P2RX2 (V48G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1435702	NM_170682.4(P2RX2):c.173+11_173+31del	P2RX2	Deletion (intron variant)	not provided	GUncertain significance
Select item 508104	NM_170682.4(P2RX2):c.173+28_173+41del	P2RX2	Microsatellite (intron variant)	Autosomal dominant nonsyndromic hearing loss 41 +1 more	GBenign
Select item 1415184	NM_170682.4(P2RX2):c.173+25_173+31del	P2RX2	Deletion (intron variant)	not provided	GLikely benign
Select item 1281536	NM_170682.4(P2RX2):c.173+50G>A	P2RX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238423	NM_170682.4(P2RX2):c.173+129_173+160del	P2RX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1278993	NM_170682.4(P2RX2):c.173+224T>G	P2RX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258311	NM_170682.4(P2RX2):c.174-221_174-219del	P2RX2	Deletion (intron variant)	not provided	GBenign
Select item 1289694	NM_170682.4(P2RX2):c.174-215_174-211del	P2RX2	Deletion (intron variant)	not provided	GBenign
Select item 1231896	NM_170682.4(P2RX2):c.174-214_174-213insTGGGG	P2RX2	Insertion (intron variant)	not provided	GBenign
Select item 1281264	NM_170682.4(P2RX2):c.174-213C>T	P2RX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221289	NM_170682.4(P2RX2):c.174-213_174-212insTGGGGCTGGGACCAGGGGCGCGGGGCA	P2RX2	Insertion (intron variant)	not provided	GBenign
Select item 1198778	NM_170682.4(P2RX2):c.174-129A>G	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226982	NM_170682.4(P2RX2):c.174-4G>T	P2RX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2123355	NM_170682.4(P2RX2):c.174-1G>A	P2RX2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1355195	NM_170682.4(P2RX2):c.178G>A (p.Val60Ile)	P2RX2 (R37H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 155762	NM_170682.4(P2RX2):c.178G>T (p.Val60Leu)	P2RX2 (V60L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 41	GPathogenic
Select item 226983	NM_170682.4(P2RX2):c.186C>T (p.Ile62=)	P2RX2 (R40C)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 2321660	NM_170682.4(P2RX2):c.187G>A (p.Val63Met)	P2RX2 (R40H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574792	NM_170682.4(P2RX2):c.211_228del (p.Glu71_Ser76del)	P2RX2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 229124	NM_170682.4(P2RX2):c.211G>A (p.Glu71Lys)	P2RX2 (E71K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1310160	NM_170682.4(P2RX2):c.221C>G (p.Pro74Arg)	P2RX2 (P74R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3035401	NM_170682.4(P2RX2):c.222C>T (p.Pro74=)	P2RX2 (R52*)	Single nucleotide variant (synonymous variant +2 more)	P2RX2-related disorder	GLikely benign
Select item 2621134	NM_170682.4(P2RX2):c.240C>G (p.Thr80=)	P2RX2 (Q58E)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3021972	NM_170682.4(P2RX2):c.277T>C (p.Trp93Arg)	P2RX2 (W93R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2015442	NM_170682.4(P2RX2):c.291G>A (p.Glu97=)	P2RX2 (V75I)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1306278	NM_170682.4(P2RX2):c.307del (p.Glu103fs)	P2RX2 (E103fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2717423	NM_170682.4(P2RX2):c.309+5G>A	P2RX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2581323	NM_170682.4(P2RX2):c.309+11C>T	P2RX2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2967068	NM_170682.4(P2RX2):c.310-17C>T	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975550	NM_170682.4(P2RX2):c.310-14_310-13del	P2RX2	Microsatellite (intron variant)	not provided	GBenign
Select item 1722955	NM_174873.2(P2RX2):c.314dup	P2RX2	Duplication (intron variant)	not provided	GUncertain significance
Select item 2578064	NM_174873.2(P2RX2):c.314del	P2RX2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2757984	NM_170682.4(P2RX2):c.332T>C (p.Ile111Thr)	P2RX2 (I111T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069183	NM_170682.4(P2RX2):c.374G>A (p.Cys125Tyr)	P2RX2 (C125Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504852	NM_170682.4(P2RX2):c.381+2T>C	P2RX2	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1655786	NM_170682.4(P2RX2):c.381+16G>A	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216407	NM_170682.4(P2RX2):c.382-14C>T	P2RX2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2826833	NM_170682.4(P2RX2):c.382-2A>C	P2RX2	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 3001777	NM_170682.4(P2RX2):c.399C>T (p.Asn133=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1711915	NM_170682.4(P2RX2):c.415G>A (p.Asp139Asn)	P2RX2 (D115N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088235	NM_170682.4(P2RX2):c.418G>A (p.Ala140Thr)	P2RX2 (A116T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 731381	NM_170682.4(P2RX2):c.426C>A (p.Cys142Ter)	P2RX2 (C118* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2132321	NM_170682.4(P2RX2):c.435G>A (p.Gly145=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 710972	NM_170682.4(P2RX2):c.444C>T (p.Asp148=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2032306	NM_170682.4(P2RX2):c.447G>A (p.Met149Ile)	P2RX2 (M149I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1327734	NM_170682.4(P2RX2):c.457G>A (p.Gly153Ser)	P2RX2 (G129R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504800	NM_170682.4(P2RX2):c.457+9G>A	P2RX2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1931746	NM_170682.4(P2RX2):c.457+11G>T	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872262	NM_170682.4(P2RX2):c.457+12C>A	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929202	NM_170682.4(P2RX2):c.458-20C>T	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185141	NM_170682.4(P2RX2):c.459_554+1dup	P2RX2	Duplication (splice acceptor variant +1 more)	Autosomal dominant nonsyndromic hearing loss 41	GUncertain significance
Select item 2894021	NM_170682.4(P2RX2):c.468_469inv (p.Gly157Arg)	P2RX2 (G157R +3 more)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 226984	NM_170682.4(P2RX2):c.468T>C (p.Thr156=)	P2RX2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nonsyndromic hearing loss 41 +2 more	GBenign
Select item 3017945	NM_170682.4(P2RX2):c.479T>C (p.Val160Ala)	P2RX2 (V136A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334075	NM_170682.4(P2RX2):c.490C>T (p.Gln164Ter)	P2RX2 (Q140* +3 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant nonsyndromic hearing loss 41	GUncertain significance
Select item 501253	NM_170682.4(P2RX2):c.491A>G (p.Gln164Arg)	P2RX2 (Q164R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1937098	NM_170682.4(P2RX2):c.524G>A (p.Trp175Ter)	P2RX2 (W175* +3 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3207618	NM_170682.4(P2RX2):c.538G>A (p.Asp180Asn)	P2RX2 (R144K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1402269	NM_170682.4(P2RX2):c.542G>T (p.Gly181Val)	P2RX2 (W145C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226985	NM_170682.4(P2RX2):c.554+14C>A	P2RX2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1213210	NM_170682.4(P2RX2):c.554+20T>C	P2RX2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1187684	NM_170682.4(P2RX2):c.554+22G>A	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196847	NM_170682.4(P2RX2):c.554+48T>C	P2RX2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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