C2931187[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184632	NM_004937.3(CTNS):c.141-103G>A	CTNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1210394	NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)	CTNS (R63C)	Single nucleotide variant (missense variant +2 more)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 558924	NM_004937.3(CTNS):c.329+22C>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 1184686	NM_004937.3(CTNS):c.461+49A>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 683626	NM_004937.3(CTNS):c.461+52G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 672024	NM_004937.3(CTNS):c.461+54G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GBenign
Select item 257154	NM_004937.3(CTNS):c.504G>A (p.Thr168=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 257157	NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)	CTNS (T260I +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 1199333	NM_004937.3(CTNS):c.782C>G (p.Thr261Arg)	CTNS (T114R +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GUncertain significance
Select item 1184687	NM_004937.3(CTNS):c.970+70C>T	CTNS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1199332	NM_004937.3(CTNS):c.*259C>T	CTNS (A366V)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis	GUncertain significance
Select item 257152	NM_004937.3(CTNS):c.*300C>G	CTNS (P380A)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +3 more	GBenign
Select item 322852	NM_004937.3(CTNS):c.*405G>A	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +2 more	GBenign
Select item 322853	NM_004937.3(CTNS):c.*410A>G	CTNS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 322854	NM_004937.3(CTNS):c.*421T>C	CTNS	Single nucleotide variant (3 prime UTR variant)	Ocular cystinosis +2 more	GBenign