LOC130059980[gene] - ClinVar

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Items: 40

	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 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 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 322815	NM_004937.2(CTNS):c.-520T>C	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular cystinosis +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)	Ocular cystinosis +1 more	GUncertain significance
Select item 322820	NM_004937.2(CTNS):c.-364G>T	CTNS, LOC130059980	Single nucleotide variant (5 prime UTR variant)	Ocular 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

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Items: 40