1497[geneid] - ClinVar - NCBI

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	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 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	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	EMC6, HASPIN +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 57150	GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3	CTNS, CTNS-AS1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 4445	NC_000017.11:g.3600934_3658165del	CTNS, CTNS-AS1 +6 more	Deletion	Nephropathic cystinosis	GPathogenic
Select item 189125	NM_080704.4(TRPV1):c.-34+7395T>C	TRPV1, CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis	GBenign
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 151502	GRCh38/hg38 17p13.2(chr17:3624551-3655040)x1	CTNS, CTNS-AS1 +5 more	Copy number loss	See cases	GBenign
Select item 1263504	NC_000017.11:g.3636287G>T	CTNS	Single nucleotide variant	not provided	GBenign
Select item 1259595	NC_000017.11:g.3636333A>T	CTNS	Single nucleotide variant	not provided	GBenign
Select item 990025	NM_004937.3(CTNS):c.-645C>T	CTNS	Single nucleotide variant	Cystinosis	GUncertain significance
Select item 990026	NM_004937.3(CTNS):c.-643G>A	CTNS	Single nucleotide variant	Cystinosis	GUncertain significance
Select item 652375	NC_000017.11:g.(?_3636418)_(3658185_?)del	CTNS, CTNS-AS1 +2 more	Deletion	Inborn genetic diseases +3 more	GPathogenic
Select item 526033	NC_000017.11:g.(?_3636418)_(3656815_?)del	CTNS, CTNS-AS1 +2 more	Deletion	Inborn genetic diseases +3 more	GPathogenic
Select item 455786	NC_000017.11:g.(?_3636418)_(3658195_?)del	CTNS, CTNS-AS1 +2 more	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 4454	NC_000017.11:g.3636418_3636419insT	CTNS	Insertion	Ocular cystinosis	GPathogenic
Select item 4453	NC_000017.11:g.3636418G>T	CTNS	Single nucleotide variant	Ocular cystinosis	GPathogenic
Select item 1165294	NM_004937.3(CTNS):c.-635G>C	CTNS	Single nucleotide variant	not provided +3 more	GBenign
Select item 558923	NM_004937.3(CTNS):c.-634C>T	CTNS	Single nucleotide variant	not provided	GBenign
Select item 889009	NM_004937.2(CTNS):c.-581A>T	CTNS	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 322815	NM_004937.2(CTNS):c.-520T>C	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 889705	NM_004937.2(CTNS):c.-509C>G	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 322816	NM_004937.2(CTNS):c.-497C>T	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322817	NM_004937.2(CTNS):c.-476G>A	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +1 more	GLikely benign
Select item 322818	NM_004937.2(CTNS):c.-458C>T	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +2 more	GBenign
Select item 891259	NM_004937.2(CTNS):c.-451A>G	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 322819	NM_004937.2(CTNS):c.-429T>C	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322820	NM_004937.2(CTNS):c.-364G>T	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322821	NM_004937.2(CTNS):c.-362C>T	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 322822	NM_004937.2(CTNS):c.-313G>A	CTNS, LOC130059980	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GBenign
Select item 322823	NM_004937.3(CTNS):c.-272A>C	CTNS	Single nucleotide variant (5 prime UTR variant +1 more)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322824	NM_004937.3(CTNS):c.-258G>A	CTNS	Single nucleotide variant (5 prime UTR variant +1 more)	Ocular cystinosis +1 more	GUncertain significance
Select item 322825	NM_004937.3(CTNS):c.-230+11A>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +1 more	GBenign
Select item 149370	GRCh38/hg38 17p13.2(chr17:3637051-3661051)x1	CTNS, CTNS-AS1 +1 more	Copy number loss	See cases	GLikely benign
Select item 144620	GRCh38/hg38 17p13.2(chr17:3637051-3657972)x1	CTNS, CTNS-AS1 +1 more	Copy number loss	See cases	GBenign
Select item 144433	GRCh38/hg38 17p13.2(chr17:3637097-3657852)x1	CTNS, CTNS-AS1 +1 more	Copy number loss	See cases	GBenign
Select item 322826	NM_004937.3(CTNS):c.-213T>C	CTNS, LOC130059981	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322827	NM_004937.3(CTNS):c.-136C>A	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322828	NM_004937.3(CTNS):c.-74A>T	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322829	NM_004937.3(CTNS):c.-47A>C	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322830	NM_004937.3(CTNS):c.-24C>T	CTNS	Single nucleotide variant (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322831	NM_004937.3(CTNS):c.-23AG[1]	CTNS	Microsatellite (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322832	NM_004937.3(CTNS):c.-20+13T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +1 more	GUncertain significance
Select item 146829	GRCh38/hg38 17p13.2(chr17:3638550-3656739)x1	CTNS, CTNS-AS1	Copy number loss	See cases	GLikely benign
Select item 1277327	NM_004937.3(CTNS):c.-19-211A>G	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 147854	GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1	CTNS, CTNS-AS1	Copy number loss	See cases	GConflicting classifications of pathogenicity
Select item 552524	NM_004937.3(CTNS):c.-19-1G>A	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 553156	NM_004937.3(CTNS):c.-8C>T	CTNS	Single nucleotide variant (5 prime UTR variant +1 more)	Nephropathic cystinosis	GUncertain significance
Select item 1391189	NM_004937.3(CTNS):c.1A>T (p.Met1Leu)	CTNS (M1L)	Single nucleotide variant (missense variant +3 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1358167	NM_004937.3(CTNS):c.5T>C (p.Ile2Thr)	CTNS (I2T)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 1078471	NM_004937.3(CTNS):c.12T>C (p.Asn4=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2681023	NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	CTNS (W5*)	Single nucleotide variant (nonsense +2 more)	Ocular cystinosis +3 more	GPathogenic
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Cystinosis +6 more	GPathogenic
Select item 549930	NM_004937.3(CTNS):c.20del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2049001	NM_004937.3(CTNS):c.22A>G (p.Ile8Val)	CTNS (I8V)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 1454306	NM_004937.3(CTNS):c.27del (p.Phe9fs)	CTNS (F9fs)	Deletion (frameshift variant +2 more)	Ocular cystinosis +2 more	GPathogenic
Select item 1671398	NM_004937.3(CTNS):c.29T>C (p.Ile10Thr)	CTNS (I10T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1140984	NM_004937.3(CTNS):c.30C>A (p.Ile10=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Juvenile nephropathic cystinosis +2 more	GLikely benign
Select item 556926	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	CTNS	Deletion (nonsense +2 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1084631	NM_004937.3(CTNS):c.39C>T (p.Pro13=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2934624	NM_004937.3(CTNS):c.40C>T (p.Leu14=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2200916	NM_004937.3(CTNS):c.48C>T (p.Leu16=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2184869	NM_004937.3(CTNS):c.49G>A (p.Val17Ile)	CTNS (V17I)	Single nucleotide variant (missense variant +2 more)	Juvenile nephropathic cystinosis +2 more	GUncertain significance
Select item 4442	NM_004937.3(CTNS):c.60_61del (p.Cys20_Glu21delinsTer)	CTNS	Microsatellite (nonsense +2 more)	Nephropathic cystinosis	GPathogenic
Select item 852141	NM_004937.3(CTNS):c.61_61+2del	CTNS	Deletion (splice donor variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1075103	NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	CTNS (E21*)	Single nucleotide variant (nonsense +2 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1490046	NM_004937.3(CTNS):c.61+1G>T	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 557916	NM_004937.3(CTNS):c.61+1G>A	CTNS	Single nucleotide variant (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 1504210	NM_004937.3(CTNS):c.61+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +3 more	GLikely pathogenic
Select item 836956	NM_004937.3(CTNS):c.61+5G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +3 more	GPathogenic
Select item 1602795	NM_004937.3(CTNS):c.61+7T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 1558065	NM_004937.3(CTNS):c.61+8T>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2162268	NM_004937.3(CTNS):c.61+10G>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2947709	NM_004937.3(CTNS):c.61+17C>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2066399	NM_004937.3(CTNS):c.61+19C>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 1663935	NM_004937.3(CTNS):c.61+20G>A	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 870585	NM_004937.3(CTNS):c.62-2864_225+2278del	CTNS	Deletion (splice acceptor variant +2 more)	Nephropathic cystinosis	GPathogenic
Select item 1269524	NM_004937.3(CTNS):c.62-224C>T	CTNS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 665648	NC_000017.11:g.(?_3647424)_(3648951_?)del	CTNS	Deletion	Ocular cystinosis +3 more	GPathogenic
Select item 2929267	NM_004937.3(CTNS):c.62-19T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign

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