ClinVar for PubMed (Select 15128704) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2425241	NC_000017.10:g.(?_3558272)_(3560109_?)del	CTNS	Deletion	Ocular cystinosis +2 more	GPathogenic
Select item 2196272	NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)	CTNS (D346N +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 2137881	NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)	CTNS	Deletion (inframe_deletion)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 2137880	NM_004937.3(CTNS):c.923G>T (p.Gly308Val)	CTNS (G308V +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GPathogenic
Select item 2024183	NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)	CTNS, CTNS-AS1 (S139P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 1468051	NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)	CTNS, CTNS-AS1 (W182C +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GLikely pathogenic
Select item 1455393	NM_004937.3(CTNS):c.922G>C (p.Gly308Arg)	CTNS (G161R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GPathogenic
Select item 1391189	NM_004937.3(CTNS):c.1A>T (p.Met1Leu)	CTNS (M1L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1067346	NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	CTNS (K133R +1 more)	Single nucleotide variant (missense variant)	Cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 651886	NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	CTNS, CTNS-AS1 (S141F)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 267310	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS (G308R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 267308	NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	CTNS-AS1, CTNS (W182R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 188906	NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)	CTNS	Deletion (inframe_deletion +2 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 188718	NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	CTNS, CTNS-AS1 (D205del +1 more)	Microsatellite (inframe_deletion)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 21440	NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	CTNS, CTNS-AS1 (D205N +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +5 more	GPathogenic
Select item 21439	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS, CTNS-AS1 (L158P +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 21438	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	CTNS	Deletion (inframe_deletion +2 more)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 4458	NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	CTNS, CTNS-AS1 (S139F)	Single nucleotide variant (missense variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 4456	NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	CTNS (N323K +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 4455	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS (G339R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 4451	NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	CTNS, CTNS-AS1 (G197R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 4447	NM_004937.3(CTNS):c.124G>A (p.Val42Ile)	CTNS (V42I)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GBenign/Likely benign
Select item 4446	NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)	CTNS, CTNS-AS1 (G169D +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GLikely pathogenic

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Items: 23