"CTNS-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	not provided +7 more	GPathogenic
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)	not specified +6 more	GBenign/Likely benign
Select item 786643	NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)	CTNS (D74N)	Single nucleotide variant (missense variant +2 more)	CTNS-related disorder +3 more	GLikely benign
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 disorder +3 more	GUncertain significance
Select item 288254	NM_004937.3(CTNS):c.462-7C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +6 more	GBenign/Likely benign
Select item 4455	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS (G339R +1 more)	Single nucleotide variant (missense variant)	CTNS-related disorder +6 more	GPathogenic
Select item 3041052	NM_004937.3(CTNS):c.*235TCTTT[1]	CTNS	Microsatellite (3 prime UTR variant +1 more)	CTNS-related disorder	GLikely benign
Select item 3044209	NM_004937.3(CTNS):c.*329A>G	CTNS	Single nucleotide variant (synonymous variant +1 more)	CTNS-related disorder	GLikely benign