C2931187[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189125	NM_080704.4(TRPV1):c.-34+7395T>C	TRPV1, CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis	GBenign
Select item 552524	NM_004937.3(CTNS):c.-19-1G>A	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 553156	NM_004937.3(CTNS):c.-8C>T	CTNS	Single nucleotide variant (5 prime UTR variant +1 more)	Nephropathic cystinosis	GUncertain significance
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 549930	NM_004937.3(CTNS):c.20del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis	GLikely pathogenic
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 557916	NM_004937.3(CTNS):c.61+1G>A	CTNS	Single nucleotide variant (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 556823	NM_004937.3(CTNS):c.62-2A>G	CTNS	Single nucleotide variant (splice acceptor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 555150	NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)	CTNS (S25C)	Single nucleotide variant (missense variant +2 more)	Nephropathic cystinosis	GConflicting classifications of pathogenicity
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 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 557204	NM_004937.3(CTNS):c.225+1G>A	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 552528	NM_004937.3(CTNS):c.225+5_225+7dup	CTNS	Duplication (intron variant)	Nephropathic cystinosis	GLikely benign
Select item 188893	NM_004937.3(CTNS):c.225+5_225+6delinsCC	CTNS	Indel (intron variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 370183	NM_004937.3(CTNS):c.251del (p.Asn84fs)	CTNS, CTNS-AS1 (N84fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis	GLikely 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 554790	NM_004937.3(CTNS):c.320_323del (p.Asn107fs)	CTNS-AS1, CTNS (N107fs)	Deletion (frameshift variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
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 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 551859	NM_004937.3(CTNS):c.425_427del (p.Phe142del)	CTNS, CTNS-AS1 (F142del)	Deletion (inframe_deletion +1 more)	Nephropathic cystinosis +2 more	GUncertain significance
Select item 556587	NM_004937.3(CTNS):c.451A>G (p.Arg151Gly)	CTNS, CTNS-AS1 (R151G +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 550278	NM_004937.3(CTNS):c.461+8C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Nephropathic cystinosis +2 more	GLikely benign
Select item 518423	NM_004937.3(CTNS):c.462-27_462-3del	CTNS, CTNS-AS1	Deletion (intron variant)	Nephropathic cystinosis	GUncertain significance
Select item 558561	NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)	CTNS, CTNS-AS1 (Y173C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 371212	NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)	CTNS-AS1, CTNS	Deletion (nonsense)	Nephropathic cystinosis	GPathogenic
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 549929	NM_004937.3(CTNS):c.562-2_562-1del	CTNS-AS1, CTNS	Deletion (splice acceptor variant)	Nephropathic cystinosis	GLikely 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 551803	NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)	CTNS, CTNS-AS1	Deletion (nonsense)	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 557383	NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)	CTNS, CTNS-AS1 (F208del +1 more)	Microsatellite (inframe_deletion)	Nephropathic cystinosis +3 more	GUncertain significance
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 558584	NM_004937.3(CTNS):c.681+1del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Nephropathic cystinosis	GLikely pathogenic
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 370728	NM_004937.3(CTNS):c.681+2T>C	CTNS, CTNS-AS1	Single nucleotide variant (splice donor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 370791	NM_004937.3(CTNS):c.682-1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 551613	NM_004937.3(CTNS):c.684_686dup (p.Gly230dup)	CTNS-AS1, CTNS	Duplication (inframe_insertion)	Nephropathic cystinosis	GUncertain significance
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 371076	NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)	CTNS (W245* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GPathogenic/Likely pathogenic
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 189020	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS (S270del +1 more)	Deletion (inframe_deletion)	Nephropathic cystinosis	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 496277	NM_004937.3(CTNS):c.853-2A>G	CTNS	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis +1 more	GPathogenic/Likely pathogenic
Select item 557791	NM_004937.3(CTNS):c.853-1G>A	CTNS	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +3 more	GLikely pathogenic
Select item 556100	NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)	CTNS (Y290* +1 more)	Duplication (nonsense)	Nephropathic cystinosis	GLikely 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 549927	NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)	CTNS (D305G +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GUncertain significance
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 422148	NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)	CTNS (Q315R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 557401	NM_004937.3(CTNS):c.971-1dup	CTNS	Duplication (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
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 554646	NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del)	CTNS	Deletion (inframe_deletion)	Nephropathic cystinosis	GUncertain significance
Select item 550343	NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del)	CTNS (V348del +1 more)	Microsatellite (inframe_deletion)	Nephropathic cystinosis	GUncertain significance
Select item 554648	NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs)	CTNS (K359fs +1 more)	Deletion (frameshift variant)	Nephropathic cystinosis	GUncertain significance
Select item 371515	NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)	CTNS	Single nucleotide variant (stop lost +1 more)	Nephropathic cystinosis	GLikely pathogenic

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Items: 58