C4316899[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322831	NM_004937.3(CTNS):c.-23AG[1]	CTNS	Microsatellite (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322834	NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	CTNS (V32I)	Single nucleotide variant (missense variant +2 more)	Cystinosis +5 more	GConflicting classifications of pathogenicity
Select item 322835	NM_004937.3(CTNS):c.108C>T (p.Asn36=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +5 more	GBenign/Likely benign
Select item 322836	NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)	CTNS (S39L)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 4447	NM_004937.3(CTNS):c.124G>A (p.Val42Ile)	CTNS (V42I)	Single nucleotide variant (missense variant +2 more)	CTNS-related condition +6 more	GBenign/Likely benign
Select item 714823	NM_004937.3(CTNS):c.285A>T (p.Gly95=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 198524	NM_004937.3(CTNS):c.356G>A (p.Arg119His)	CTNS, CTNS-AS1 (R119H)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +4 more	GBenign
Select item 889140	NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)	CTNS, CTNS-AS1 (R152W +1 more)	Single nucleotide variant (missense variant)	CTNS-related condition +3 more	GUncertain significance
Select item 288254	NM_004937.3(CTNS):c.462-7C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 257153	NM_004937.3(CTNS):c.462T>C (p.Ser154=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 496275	NM_004937.3(CTNS):c.480C>T (p.Phe160=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +4 more	GConflicting classifications of pathogenicity
Select item 257154	NM_004937.3(CTNS):c.504G>A (p.Thr168=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +5 more	GBenign
Select item 257156	NM_004937.3(CTNS):c.561+4C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +5 more	GConflicting classifications of pathogenicity
Select item 322842	NM_004937.3(CTNS):c.695G>A (p.Arg232His)	CTNS (R232H +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 257157	NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)	CTNS (T260I +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +5 more	GBenign
Select item 322844	NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	CTNS (D324N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 322870	NM_004937.3(CTNS):c.1024_1030delinsTGAAGCTGTC	CTNS	Indel (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322873	NM_004937.3(CTNS):c.1031_1033dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GLikely benign
Select item 322874	NM_004937.3(CTNS):c.1033_1034insGGC	CTNS	Insertion (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322876	NM_004937.3(CTNS):c.1046_1047dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322875	NM_004937.3(CTNS):c.*1047dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322883	NM_004937.3(CTNS):c.*1174CT[1]	CTNS	Microsatellite (3 prime UTR variant)	Cystinosis +1 more	GLikely benign
Select item 322884	NM_004937.3(CTNS):c.1176_1179del	CTNS	Deletion (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322904	NM_004937.3(CTNS):c.*1957dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322906	NM_004937.3(CTNS):c.1956_1957del	CTNS	Deletion (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322905	NM_004937.3(CTNS):c.*1957del	CTNS	Deletion (3 prime UTR variant)	Cystinosis +1 more	GBenign
Select item 322914	NM_004937.3(CTNS):c.*2383dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GBenign

ClinVar

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Items: 27