Related gene-specific medical variations for Gene (Select 1497) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 315

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024554	NM_004937.3(CTNS):c.462-1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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)	Inborn genetic diseases +2 more	GLikely pathogenic
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 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 2923602	NM_004937.3(CTNS):c.681+16dup	CTNS, CTNS-AS1	Duplication (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2922292	NM_004937.3(CTNS):c.561+8C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2922143	NM_004937.3(CTNS):c.226-6dup	CTNS, CTNS-AS1	Duplication (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2681026	NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)	CTNS (Q319* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681025	NM_004937.3(CTNS):c.562-2A>G	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
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 2681022	NM_004937.3(CTNS):c.600del (p.Pro200_Val201insTer)	CTNS, CTNS-AS1	Deletion (frameshift variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681021	NM_004937.3(CTNS):c.226-1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681020	NM_004937.3(CTNS):c.814_818delinsT (p.Ile272fs)	CTNS (I125fs +1 more)	Indel (frameshift variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681019	NM_004937.3(CTNS):c.864C>A (p.Asn288Lys)	CTNS (N141K +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681018	NM_004937.3(CTNS):c.546G>A (p.Trp182Ter)	CTNS, CTNS-AS1 (W182* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681017	NM_004937.3(CTNS):c.963del (p.Ser320_Tyr321insTer)	CTNS	Deletion (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681016	NM_004937.3(CTNS):c.314_317del (p.His105fs)	CTNS, CTNS-AS1 (H105fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 2681015	NM_004937.3(CTNS):c.140+1_140+20del	CTNS	Deletion (splice donor variant +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681014	NM_004937.3(CTNS):c.977G>A (p.Trp326Ter)	CTNS (W179* +1 more)	Single nucleotide variant (nonsense)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681013	NM_004937.3(CTNS):c.877dup (p.Ser293fs)	CTNS (S146fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681012	NM_004937.3(CTNS):c.971-2dup	CTNS	Duplication (splice acceptor variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681011	NM_004937.3(CTNS):c.530A>G (p.Asn177Ser)	CTNS, CTNS-AS1 (N177S +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis	GLikely pathogenic
Select item 2681009	NM_004937.3(CTNS):c.395G>A (p.Trp132Ter)	CTNS, CTNS-AS1 (W132*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis	GLikely pathogenic
Select item 2672244	NM_004937.3(CTNS):c.785G>A (p.Trp262Ter)	CTNS (W115* +1 more)	Single nucleotide variant (nonsense)	Ocular cystinosis	GLikely pathogenic
Select item 2576715	NM_004937.3(CTNS):c.665A>G (p.Gln222Arg)	CTNS, CTNS-AS1 (Q222R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2502614	NM_004937.3(CTNS):c.443T>C (p.Met148Thr)	CTNS, CTNS-AS1 (M148T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2462393	NM_004937.3(CTNS):c.253T>A (p.Ser85Thr)	CTNS-AS1, CTNS (S85T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355988	NM_004937.3(CTNS):c.583C>T (p.Pro195Ser)	CTNS-AS1, CTNS (P48S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178328	NM_004937.3(CTNS):c.376A>G (p.Ile126Val)	CTNS, CTNS-AS1 (I126V)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 2172263	NM_004937.3(CTNS):c.682-16C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2171177	NM_004937.3(CTNS):c.636G>A (p.Ala212=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2170402	NM_004937.3(CTNS):c.465C>T (p.Val155=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2165107	NM_004937.3(CTNS):c.681+17C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2162357	NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)	CTNS, CTNS-AS1 (N93S)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GUncertain significance
Select item 2161663	NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)	CTNS, CTNS-AS1 (Y79C +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 2160286	NM_004937.3(CTNS):c.461+13G>A	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2160029	NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)	CTNS-AS1, CTNS (A25S +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 2159989	NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)	CTNS, CTNS-AS1 (N196K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2155296	NM_004937.3(CTNS):c.673C>T (p.Leu225=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2147601	NM_004937.3(CTNS):c.462-95_462-19del	CTNS, CTNS-AS1	Deletion (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2141342	NM_004937.3(CTNS):c.461+15C>T	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2140634	NM_004937.3(CTNS):c.616G>A (p.Val206Ile)	CTNS, CTNS-AS1 (V59I +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 2111174	NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)	CTNS, CTNS-AS1 (L97F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2086817	NM_004937.3(CTNS):c.649C>T (p.Leu217=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2085045	NM_004937.3(CTNS):c.690C>G (p.Gly230=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 2063992	NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)	CTNS-AS1, CTNS (R152Q +1 more)	Single nucleotide variant (missense variant)	Juvenile nephropathic cystinosis +2 more	GUncertain significance
Select item 2063360	NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)	CTNS, CTNS-AS1 (G110S)	Single nucleotide variant (missense variant +1 more)	Juvenile nephropathic cystinosis +2 more	GUncertain significance
Select item 2061615	NM_004937.3(CTNS):c.532A>G (p.Ile178Val)	CTNS, CTNS-AS1 (I31V +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 2051744	NM_004937.3(CTNS):c.561+3A>G	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2037264	NM_004937.3(CTNS):c.226-13dup	CTNS, CTNS-AS1	Duplication (intron variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 2032140	NM_004937.3(CTNS):c.411C>T (p.Ala137=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Ocular cystinosis +2 more	GLikely benign
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

<< First< Prev

Page of 4