C2931013[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2681023	NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)	CTNS (W5*)	Single nucleotide variant (nonsense +2 more)	Ocular cystinosis +3 more	GPathogenic
Select item 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	not provided +6 more	GPathogenic
Select item 556926	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	CTNS	Deletion (nonsense +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 852141	NM_004937.3(CTNS):c.61_61+2del	CTNS	Deletion (splice donor variant +1 more)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1075103	NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)	CTNS (E21*)	Single nucleotide variant (nonsense +2 more)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1504210	NM_004937.3(CTNS):c.61+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +3 more	GLikely pathogenic
Select item 836956	NM_004937.3(CTNS):c.61+5G>A	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 959150	NM_004937.3(CTNS):c.140+2T>C	CTNS	Single nucleotide variant (splice donor variant +1 more)	Nephropathic cystinosis +3 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 455787	NM_004937.3(CTNS):c.206_210del (p.Ile69fs)	CTNS (I69fs)	Deletion (frameshift variant +2 more)	Ocular cystinosis +4 more	GPathogenic
Select item 550829	NM_004937.3(CTNS):c.225+5_225+8del	CTNS	Microsatellite (splice donor variant +1 more)	Nephropathic cystinosis +3 more	GLikely pathogenic
Select item 2681007	NM_004937.3(CTNS):c.225+3A>T	CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 1724190	NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)	CTNS, CTNS-AS1 (Q96*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 188741	NM_004937.3(CTNS):c.292dup (p.Thr98fs)	CTNS, CTNS-AS1 (T98fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2681016	NM_004937.3(CTNS):c.314_317del (p.His105fs)	CTNS, CTNS-AS1 (H105fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis +3 more	GPathogenic
Select item 253205	NM_004937.3(CTNS):c.323del (p.Gln108fs)	CTNS, CTNS-AS1 (Q108fs)	Deletion (frameshift variant +1 more)	Ocular cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 371171	NM_004937.3(CTNS):c.329+2T>C	CTNS, CTNS-AS1	Single nucleotide variant (splice donor variant)	Nephropathic cystinosis +1 more	GConflicting classifications of pathogenicity
Select item 4443	NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	CTNS, CTNS-AS1 (W138*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
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 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 654346	NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	CTNS-AS1, CTNS (Y143*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 21439	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS, CTNS-AS1 (L158P +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 21442	NM_004937.3(CTNS):c.559_561+24del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Infantile nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 189067	NM_004937.3(CTNS):c.561+1del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1698582	NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	CTNS, CTNS-AS1 (Q189* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 4451	NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	CTNS, CTNS-AS1 (G197R +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +5 more	GPathogenic/Likely 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 2681024	NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)	CTNS, CTNS-AS1 (T216fs +1 more)	Insertion (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 371084	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS-AS1, CTNS (T216fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 553330	NM_004937.3(CTNS):c.681G>A (p.Glu227=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Nephropathic cystinosis +4 more	GPathogenic
Select item 966528	NM_004937.3(CTNS):c.681+1G>A	CTNS-AS1, CTNS	Single nucleotide variant (splice donor variant)	Nephropathic cystinosis +4 more	GPathogenic
Select item 664004	NM_004937.3(CTNS):c.682-1G>T	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1417838	NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)	CTNS, CTNS-AS1 (R228C +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
Select item 804418	NM_004937.3(CTNS):c.691C>T (p.Gln231Ter)	CTNS, CTNS-AS1 (Q231* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis +2 more	GPathogenic/Likely pathogenic
Select item 551688	NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	CTNS, CTNS-AS1 (V233fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 21441	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS (V233fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 1425663	NM_004937.3(CTNS):c.699_700del (p.Ser234fs)	CTNS (S234fs +1 more)	Microsatellite (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 496276	NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	CTNS (G258fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 599228	NM_004937.3(CTNS):c.768dup (p.Val257fs)	CTNS (V257fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic/Likely pathogenic
Select item 551290	NM_004937.3(CTNS):c.829dup (p.Thr277fs)	CTNS (T277fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 1067346	NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	CTNS (K133R +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 551289	NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)	CTNS (W297* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 188714	NM_004937.3(CTNS):c.926dup (p.Ser310fs)	CTNS (S310fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +4 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 4456	NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	CTNS (N323K +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GPathogenic
Select item 526030	NM_004937.3(CTNS):c.971-12G>A	CTNS	Single nucleotide variant (intron variant)	Infantile nephropathic cystinosis +4 more	GPathogenic
Select item 4455	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS (G339R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +5 more	GPathogenic
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

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Items: 49