TAX1BP3[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 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	ASPA, CTNS +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	AIPL1, ALOX12 +290 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, 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)	not provided +2 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)	not provided +2 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 +2 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)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322924	NM_004937.3(CTNS):c.*2662G>A	CTNS, P2RX5-TAX1BP3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 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)	not specified	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)	not provided +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)	not specified	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 3174342	NM_014604.4(TAX1BP3):c.254T>C (p.Met85Thr)	P2RX5-TAX1BP3, TAX1BP3 (M85T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 598745	NM_014604.4(TAX1BP3):c.233T>C (p.Met78Thr)	P2RX5-TAX1BP3, 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)	not specified	GUncertain significance
Select item 3174340	NM_014604.4(TAX1BP3):c.167A>G (p.Tyr56Cys)	P2RX5-TAX1BP3, TAX1BP3 (Y56C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2989889	NM_014604.4(TAX1BP3):c.162T>C (p.Gly54=)	P2RX5-TAX1BP3, TAX1BP3	Single nucleotide variant (intron 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 3453262	NM_014604.4(TAX1BP3):c.136T>A (p.Phe46Ile)	P2RX5-TAX1BP3, TAX1BP3 (F46I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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 3453263	NM_014604.4(TAX1BP3):c.118G>A (p.Asp40Asn)	P2RX5-TAX1BP3, TAX1BP3 (D40N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
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)	not specified	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)	not provided +1 more	GUncertain significance
Select item 3174343	NM_014604.4(TAX1BP3):c.46G>T (p.Val16Phe)	P2RX5-TAX1BP3, TAX1BP3 (V16F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3392434	GRCh37/hg19 17p13.2(chr17:3427487-3831324)x1	ATP2A3, CAMKK1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 3392170	GRCh37/hg19 17p13.3-13.2(chr17:2374401-3949734)x3	ASPA, ATP2A3 +29 more	Copy number gain	not provided	GUncertain significance
Select item 3391933	GRCh37/hg19 17p13.3-13.2(chr17:9475-3793447)x1	ABR, ASPA +67 more	Copy number loss	not provided	GPathogenic
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
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 2425848	NC_000017.10:g.(?_3447853)_(3571820_?)dup	CTNS, SHPK +3 more	Duplication	not provided	GUncertain significance
Select item 2425242	NC_000017.10:g.(?_3533479)_(3571820_?)dup	CTNS, SHPK +1 more	Duplication	not provided	GUncertain significance
Select item 2422206	NC_000017.10:g.(?_3379454)_(3819519_?)del	ASPA, CAMKK1 +11 more	Deletion	Spongy degeneration of central nervous system	GPathogenic
Select item 1809346	GRCh37/hg19 17p13.2(chr17:3392984-3631198)x1	ASPA, CTNS +8 more	Copy number loss	not provided	GUncertain significance
Select item 1698538	NC_000017.10:g.(?_3539761)_(3566398_?)del	CTNS, TAX1BP3	Deletion	Cystinosis	GLikely pathogenic
Select item 1449340	NC_000017.10:g.(?_3392509)_(3571820_?)del	ASPA, CTNS +4 more	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 1403973	NC_000017.10:g.(?_2541583)_(3819519_?)del	ASPA, CAMKK1 +26 more	Deletion	not provided	GPathogenic
Select item 1340916	GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3	ASPA, CTNS +21 more	Copy number gain	not provided	GUncertain significance
Select item 1180511	GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1	OR1G1, OR3A1 +25 more	Copy number loss	not provided	GPathogenic
Select item 972966	GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3	ATP2A3, HASPIN +9 more	Copy number gain	not provided	Gnot provided
Select item 915963	GRCh37/hg19 17p13.2(chr17:3394299-3632836)	ASPA, CTNS +8 more	Copy number loss	Primary familial dilated cardiomyopathy	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815894	GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1	ITGAE, P2RX5 +8 more	Copy number loss	not provided	GUncertain significance
Select item 815893	GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3	ASPA, CTNS +14 more	Copy number gain	not provided	GLikely benign
Select item 688206	GRCh37/hg19 17p13.2(chr17:3405774-3640694)x1	CTNS, EMC6 +7 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 598746	Single allele	EMC6, HASPIN +8 more	Deletion	TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
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 442473	GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1	ASPA, CTNS +8 more	Copy number loss	See cases	GUncertain significance
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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 394707	GRCh37/hg19 17p13.2(chr17:3552153-3719502)x3	CTNS, EMC6 +5 more	Copy number gain	See cases	GUncertain significance
Select item 253683	GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3	ASPA, CTNS +8 more	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: 94