ClinVar for MedGen (Select 75701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954563	NM_004937.3(CTNS):c.834G>C (p.Leu278=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2954331	NM_004937.3(CTNS):c.562-18C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2954303	NM_004937.3(CTNS):c.135C>A (p.Thr45=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2954019	NM_004937.3(CTNS):c.537C>T (p.Gly179=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2953646	NM_004937.3(CTNS):c.562-15C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2953592	NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)	CTNS, CTNS-AS1 (W182* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 2953143	NM_004937.3(CTNS):c.288A>G (p.Gln96=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2952600	NM_004937.3(CTNS):c.330-20G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2951166	NM_004937.3(CTNS):c.681+22del	CTNS, CTNS-AS1	Deletion (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 2951028	NM_004937.3(CTNS):c.682-2A>C	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2950772	NM_004937.3(CTNS):c.329+13C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2950669	NC_000017.11:g.3654998del	CTNS, CTNS-AS1	Deletion	Inborn genetic diseases +2 more	GPathogenic
Select item 2950011	NM_004937.3(CTNS):c.681+15G>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2949755	NM_004937.3(CTNS):c.561+12C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2949275	NM_004937.3(CTNS):c.853-16C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2949065	NM_004937.3(CTNS):c.78C>G (p.Leu26=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2948932	NM_004937.3(CTNS):c.981G>T (p.Thr327=)	CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2948612	NM_004937.3(CTNS):c.447T>C (p.Asn149=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2948407	NM_004937.3(CTNS):c.711C>T (p.Ala237=)	CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2947709	NM_004937.3(CTNS):c.61+17C>G	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2947243	NM_004937.3(CTNS):c.405dup (p.Val136fs)	CTNS, CTNS-AS1 (V136fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2946687	NM_004937.3(CTNS):c.204del (p.Ile69fs)	CTNS (I69fs)	Deletion (frameshift variant +2 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2946535	NM_004937.3(CTNS):c.681+19C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2945908	NM_004937.3(CTNS):c.852+14_852+34del	CTNS	Deletion (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2945447	NM_004937.3(CTNS):c.971-13dup	CTNS	Duplication (intron variant)	Ocular cystinosis +2 more	GBenign
Select item 2945355	NM_004937.3(CTNS):c.1014C>G (p.Leu338=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2945025	NM_004937.3(CTNS):c.62-14T>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2944591	NM_004937.3(CTNS):c.853-13C>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2944487	NM_004937.3(CTNS):c.645C>T (p.Leu215=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2944396	NM_004937.3(CTNS):c.682-10T>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2944390	NM_004937.3(CTNS):c.171T>G (p.Thr57=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2944246	NM_004937.3(CTNS):c.226-7C>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2944244	NM_004937.3(CTNS):c.462-6C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2943172	NM_004937.3(CTNS):c.183A>G (p.Thr61=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2942536	NM_004937.3(CTNS):c.330-18C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2942495	NM_004937.3(CTNS):c.140+12G>C	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2942305	NM_004937.3(CTNS):c.970+9G>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2942210	NM_004937.3(CTNS):c.686_699del (p.Gly229fs)	CTNS, CTNS-AS1 (G229fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2941091	NM_004937.3(CTNS):c.180C>T (p.Ile60=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2940739	NM_004937.3(CTNS):c.204T>C (p.Thr68=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2940332	NM_004937.3(CTNS):c.461+19T>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2939775	NM_004937.3(CTNS):c.461+19T>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2939647	NM_004937.3(CTNS):c.461+17T>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2938972	NM_004937.3(CTNS):c.682-6C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2938473	NM_004937.3(CTNS):c.971-12G>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2938396	NM_004937.3(CTNS):c.117G>T (p.Ser39=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2938213	NM_004937.3(CTNS):c.853-8T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2938154	NM_004937.3(CTNS):c.366C>T (p.Ala122=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2938141	NM_004937.3(CTNS):c.141-20T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2937232	NM_004937.3(CTNS):c.461+16G>C	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2936928	NM_004937.3(CTNS):c.372C>T (p.Ser124=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2936826	NM_004937.3(CTNS):c.140+1G>A	CTNS	Single nucleotide variant (splice donor variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2936782	NM_004937.3(CTNS):c.474G>A (p.Leu158=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2936256	NM_004937.3(CTNS):c.561+15G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2936053	NM_004937.3(CTNS):c.462-9C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2935814	NM_004937.3(CTNS):c.971-15C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2935511	NM_004937.3(CTNS):c.852+19T>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2935235	NM_004937.3(CTNS):c.561+18C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2935160	NM_004937.3(CTNS):c.219C>G (p.Pro73=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2934624	NM_004937.3(CTNS):c.40C>T (p.Leu14=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 2934573	NM_004937.3(CTNS):c.62-5T>C	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2934260	NM_004937.3(CTNS):c.682-11C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2934120	NM_004937.3(CTNS):c.562-17T>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2934119	NM_004937.3(CTNS):c.561+7C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2933288	NM_004937.3(CTNS):c.462-8C>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2933252	NM_004937.3(CTNS):c.81T>C (p.Thr27=)	CTNS	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2933191	NM_004937.3(CTNS):c.912G>A (p.Leu304=)	CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2932957	NM_004937.3(CTNS):c.999A>G (p.Pro333=)	CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2932749	NM_004937.3(CTNS):c.226-15C>T	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2932112	NM_004937.3(CTNS):c.852+14C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2932060	NM_004937.3(CTNS):c.971-16C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2932015	NM_004937.3(CTNS):c.681+11C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2931933	NM_004937.3(CTNS):c.900C>T (p.Gly300=)	CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2931819	NM_004937.3(CTNS):c.140+11G>A	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2931554	NM_004937.3(CTNS):c.226-14A>C	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2931530	NM_004937.3(CTNS):c.329+14_329+15del	CTNS, CTNS-AS1	Deletion (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2931135	NM_004937.3(CTNS):c.141-14C>T	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2930721	NM_004937.3(CTNS):c.681+12C>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2930397	NM_004937.3(CTNS):c.540C>T (p.Leu180=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2929826	NM_004937.3(CTNS):c.1059C>T (p.His353=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2929446	NM_004937.3(CTNS):c.971-16C>G	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2929267	NM_004937.3(CTNS):c.62-19T>C	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2928583	NM_004937.3(CTNS):c.852+10G>A	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2928080	NM_004937.3(CTNS):c.852+20C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2927866	NM_004937.3(CTNS):c.852+17G>A	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2927805	NM_004937.3(CTNS):c.462-12C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2927625	NM_004937.3(CTNS):c.682-5C>A	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2927624	NM_004937.3(CTNS):c.682-3del	CTNS-AS1, CTNS	Deletion (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 2927230	NM_004937.3(CTNS):c.675G>A (p.Leu225=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2926696	NM_004937.3(CTNS):c.225+20G>A	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2925746	NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)	CTNS, CTNS-AS1 (Y143C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2925596	NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)	CTNS (Q168* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 2925595	NM_004937.3(CTNS):c.562-1G>C	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GLikely pathogenic
Select item 2925594	NM_004937.3(CTNS):c.517T>C (p.Tyr173His)	CTNS, CTNS-AS1 (Y173H +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +3 more	GLikely pathogenic
Select item 2925454	NM_004937.3(CTNS):c.970+15_970+21del	CTNS	Deletion (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2925226	NM_004937.3(CTNS):c.330-16C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2925136	NM_004937.3(CTNS):c.462-47_462-7del	CTNS, CTNS-AS1	Deletion (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2924901	NM_004937.3(CTNS):c.852+14_852+15del	CTNS	Deletion (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2924707	NM_004937.3(CTNS):c.462-17C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2924704	NM_004937.3(CTNS):c.225+5G>A	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely pathogenic

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