P2RX5-TAX1BP3[gene] - ClinVar

Search results

Items: 91

	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 60099	GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3	ASPA, CTNS +33 more	Copy number gain	See cases	GUncertain significance
Select item 148256	GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3	ASPA, CTNS +28 more	Copy number gain	See cases	GUncertain significance
Select item 155543	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3	ASPA, CTNS +47 more	Copy number gain	See cases	GLikely benign
Select item 153806	GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 154726	GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3	ASPA, CAMKK1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 583521	NC_000017.11:g.(?_3489235)_(3729555_?)del	HASPIN, ITGAE +27 more	Deletion	not provided	GUncertain significance
Select item 150930	GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1	ASPA, CTNS +27 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 154546	GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1	CTNS, CTNS-AS1 +22 more	Copy number loss	See cases	GUncertain significance
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 157374	Single allele	CTNS, CTNS-AS1 +11 more	Deletion	Normal pregnancy	Gnot provided
Select item 322917	NM_004937.3(CTNS):c.*2527G>A	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 322918	NM_004937.3(CTNS):c.*2546G>C	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GBenign
Select item 322919	NM_004937.3(CTNS):c.*2550G>A	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GBenign
Select item 889571	NM_004937.3(CTNS):c.*2568G>C	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322920	NM_004937.3(CTNS):c.*2569C>T	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GBenign
Select item 322921	NM_004937.3(CTNS):c.*2584C>T	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 322922	NM_004937.3(CTNS):c.*2593A>T	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 322923	NM_004937.3(CTNS):c.*2628C>T	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 322924	NM_004937.3(CTNS):c.*2662G>A	P2RX5-TAX1BP3, TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 322925	NM_004937.3(CTNS):c.*2717A>G	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 2419966	NM_014604.4(TAX1BP3):c.368T>C (p.Leu123Pro)	P2RX5-TAX1BP3, TAX1BP3 (L123P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2604693	NM_014604.4(TAX1BP3):c.358C>A (p.Gln120Lys)	P2RX5-TAX1BP3, TAX1BP3 (Q120K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2730797	NM_014604.4(TAX1BP3):c.356A>G (p.Gln119Arg)	P2RX5-TAX1BP3, TAX1BP3 (Q119R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2393433	NM_014604.4(TAX1BP3):c.352G>A (p.Val118Met)	P2RX5-TAX1BP3, TAX1BP3 (V118M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2618039	NM_014604.4(TAX1BP3):c.331C>T (p.Arg111Trp)	P2RX5-TAX1BP3, TAX1BP3 (R111W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2843151	NM_014604.4(TAX1BP3):c.329C>T (p.Thr110Met)	P2RX5-TAX1BP3, TAX1BP3 (T110M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 598745	NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)	TAX1BP3, P2RX5-TAX1BP3 (M78T)	Single nucleotide variant (non-coding transcript variant +2 more)	Primary familial dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1914271	NM_014604.4(TAX1BP3):c.210G>C (p.Gly70=)	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2226404	NM_014604.4(TAX1BP3):c.175C>T (p.Arg59Trp)	P2RX5-TAX1BP3, TAX1BP3 (R59W)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2989889	NM_014604.4(TAX1BP3):c.162T>C (p.Gly54=)	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 2802542	NM_014604.4(TAX1BP3):c.160-17G>T	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721453	NM_014604.4(TAX1BP3):c.159G>T (p.Lys53Asn)	P2RX5-TAX1BP3, TAX1BP3 (K53N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2339342	NM_014604.4(TAX1BP3):c.133C>A (p.Pro45Thr)	P2RX5-TAX1BP3, TAX1BP3 (P45T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1577462	NM_014604.4(TAX1BP3):c.120T>C (p.Asp40=)	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2038489	NM_014604.4(TAX1BP3):c.115C>G (p.Gln39Glu)	P2RX5-TAX1BP3, TAX1BP3 (Q39E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2545380	NM_014604.4(TAX1BP3):c.107G>T (p.Gly36Val)	P2RX5-TAX1BP3, TAX1BP3 (G36V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 372264	NM_014604.4(TAX1BP3):c.98T>C (p.Ile33Thr)	P2RX5-TAX1BP3, TAX1BP3 (I33T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1912204	NM_014604.4(TAX1BP3):c.64C>T (p.Arg22Cys)	P2RX5-TAX1BP3, TAX1BP3 (R22C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1963065	NM_014604.4(TAX1BP3):c.39+9G>A	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2474291	NM_014604.4(TAX1BP3):c.34G>T (p.Val12Leu)	P2RX5-TAX1BP3, TAX1BP3 (V12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495507	NM_031298.4(EMC6):c.23G>T (p.Arg8Leu)	EMC6, P2RX5-TAX1BP3 (R8L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364174	NM_031298.4(EMC6):c.55G>T (p.Val19Leu)	EMC6, P2RX5-TAX1BP3 (V19L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535886	NM_031298.4(EMC6):c.283A>C (p.Thr95Pro)	EMC6, P2RX5-TAX1BP3 (T95P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1242253	NM_002561.4(P2RX5):c.1259+6G>A	P2RX5, P2RX5-TAX1BP3	Single nucleotide variant (intron variant)	P2RX5-related condition +1 more	GBenign/Likely benign
Select item 2647236	NM_002561.4(P2RX5):c.1194G>A (p.Ala398=)	P2RX5, P2RX5-TAX1BP3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2251736	NM_002561.4(P2RX5):c.1102G>A (p.Ala368Thr)	P2RX5-TAX1BP3, P2RX5 (A367T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050460	NM_002561.4(P2RX5):c.1084C>T (p.Gln362Ter)	P2RX5, P2RX5-TAX1BP3 (Q154* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	P2RX5-related condition	GBenign
Select item 2350085	NM_002561.4(P2RX5):c.1057G>A (p.Glu353Lys)	P2RX5-TAX1BP3, P2RX5 (E328K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336801	NM_002561.4(P2RX5):c.1054G>A (p.Glu352Lys)	P2RX5, P2RX5-TAX1BP3 (E327K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471255	NM_002561.4(P2RX5):c.1039C>T (p.Arg347Cys)	P2RX5, P2RX5-TAX1BP3 (R323C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518374	NM_002561.4(P2RX5):c.999C>A (p.Asp333Glu)	P2RX5, P2RX5-TAX1BP3 (D308E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343789	NM_002561.4(P2RX5):c.976G>C (p.Gly326Arg)	P2RX5, P2RX5-TAX1BP3 (G302R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609461	NM_002561.4(P2RX5):c.949G>A (p.Gly317Arg)	P2RX5, P2RX5-TAX1BP3 (G293R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402624	NM_002561.4(P2RX5):c.943G>A (p.Ala315Thr)	P2RX5-TAX1BP3, P2RX5 (A291T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290579	NM_002561.4(P2RX5):c.910G>A (p.Ala304Thr)	P2RX5-TAX1BP3, P2RX5 (A279T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587540	NM_002561.4(P2RX5):c.904C>T (p.Arg302Ter)	P2RX5, P2RX5-TAX1BP3 (R302* +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2296595	NM_002561.4(P2RX5):c.841C>G (p.Leu281Val)	P2RX5-TAX1BP3, P2RX5 (L280V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481499	NM_002561.4(P2RX5):c.710T>G (p.Val237Gly)	P2RX5, P2RX5-TAX1BP3 (V212G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250887	NM_002561.4(P2RX5):c.704G>T (p.Gly235Val)	P2RX5-TAX1BP3, P2RX5 (G210V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385112	NM_002561.4(P2RX5):c.589C>T (p.Arg197Cys)	P2RX5-TAX1BP3, P2RX5 (R197C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540757	NM_002561.4(P2RX5):c.562T>G (p.Phe188Val)	P2RX5, P2RX5-TAX1BP3 (F188V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469428	NM_002561.4(P2RX5):c.532G>C (p.Glu178Gln)	P2RX5, P2RX5-TAX1BP3 (E154Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471464	NM_002561.4(P2RX5):c.517A>T (p.Thr173Ser)	P2RX5, P2RX5-TAX1BP3 (T149S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291191	NM_002561.4(P2RX5):c.478A>G (p.Arg160Gly)	P2RX5-TAX1BP3, P2RX5 (R136G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264629	NM_002561.4(P2RX5):c.452G>A (p.Arg151His)	P2RX5-TAX1BP3, P2RX5 (R127H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286498	NM_002561.4(P2RX5):c.421G>A (p.Val141Ile)	P2RX5-TAX1BP3, P2RX5 (V117I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514195	NM_002561.4(P2RX5):c.400G>A (p.Asp134Asn)	P2RX5, P2RX5-TAX1BP3 (D110N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344616	NM_002561.4(P2RX5):c.382G>A (p.Ala128Thr)	P2RX5-TAX1BP3, P2RX5 (A104T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364684	NM_002561.4(P2RX5):c.349G>A (p.Val117Ile)	P2RX5, P2RX5-TAX1BP3 (V117I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2371812	NM_002561.4(P2RX5):c.340C>T (p.Arg114Trp)	P2RX5, P2RX5-TAX1BP3 (R114W)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 403283	NM_002561.4(P2RX5):c.333del (p.Asn112fs)	P2RX5, P2RX5-TAX1BP3 (N112fs)	Deletion (non-coding transcript variant +2 more)	not specified	GBenign
Select item 2224014	NM_002561.4(P2RX5):c.298G>T (p.Val100Phe)	P2RX5-TAX1BP3, P2RX5 (V100F)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2277395	NM_002561.4(P2RX5):c.295A>T (p.Asn99Tyr)	P2RX5, P2RX5-TAX1BP3 (N99Y)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280387	NM_002561.4(P2RX5):c.284C>T (p.Ala95Val)	P2RX5, P2RX5-TAX1BP3 (A95V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308919	NM_002561.4(P2RX5):c.274G>A (p.Val92Ile)	P2RX5-TAX1BP3, P2RX5 (V92I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295192	NM_002561.4(P2RX5):c.217G>A (p.Val73Met)	P2RX5, P2RX5-TAX1BP3 (V73M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2213385	NM_002561.4(P2RX5):c.175G>T (p.Asp59Tyr)	P2RX5-TAX1BP3, P2RX5 (D59Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618796	NM_002561.4(P2RX5):c.42C>A (p.Phe14Leu)	P2RX5, P2RX5-TAX1BP3 (F14L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 91