ClinVar for MedGen (Select 1384792) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366854	NC_000017.10:g.(3540611_3543481)_(3561470_3563151)del	CTNS	Deletion	Cystinosis	GPathogenic
Select item 3366834	NC_000017.10:g.(3540611_3543481)_(3560090_3561298)del	CTNS	Deletion	Cystinosis	GPathogenic
Select item 3069036	NC_000017.10:g.(?_3540053)_3561464del	CTNS	Deletion	Cystinosis	GPathogenic
Select item 2577044	NM_004937.3(CTNS):c.741del (p.Phe247fs)	CTNS (F100fs +1 more)	Deletion (frameshift variant)	Cystinosis	GPathogenic
Select item 2501161	NC_000017.10:g.(?_3539761)_3561464del	CTNS	Deletion	Cystinosis	GPathogenic
Select item 2445774	NM_004937.3(CTNS):c.850C>T (p.Gln284Ter)	CTNS (Q137* +1 more)	Single nucleotide variant (nonsense)	Cystinosis	GLikely pathogenic
Select item 2429208	NM_004937.3(CTNS):c.1027_1038del (p.Ile343_Asp346del)	CTNS	Deletion (inframe_deletion)	Cystinosis	GPathogenic
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 1698538	NC_000017.10:g.(?_3539761)_(3566398_?)del	CTNS, TAX1BP3	Deletion	Cystinosis	GLikely pathogenic
Select item 1165294	NM_004937.3(CTNS):c.-635G>C	CTNS	Single nucleotide variant	not provided +3 more	GBenign
Select item 1103058	NM_004937.3(CTNS):c.1029C>T (p.Ile343=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 1090762	NM_004937.3(CTNS):c.909C>T (p.Leu303=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 1067346	NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	CTNS (K133R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 1042415	NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)	CTNS (F203del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1020638	NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	CTNS, CTNS-AS1 (A212V +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GPathogenic
Select item 990466	NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)	CTNS, CTNS-AS1 (A212T +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 990033	NM_004937.3(CTNS):c.554A>T (p.Tyr185Phe)	CTNS, CTNS-AS1 (Y185F +1 more)	Single nucleotide variant (missense variant)	Cystinosis	GUncertain significance
Select item 990032	NM_004937.3(CTNS):c.534C>G (p.Ile178Met)	CTNS, CTNS-AS1 (I178M +1 more)	Single nucleotide variant (missense variant)	Cystinosis	GUncertain significance
Select item 990031	NM_004937.3(CTNS):c.386T>A (p.Val129Glu)	CTNS, CTNS-AS1 (V129E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 990030	NM_004937.3(CTNS):c.270A>T (p.Thr90=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 990029	NM_004937.3(CTNS):c.226G>A (p.Val76Ile)	CTNS-AS1, CTNS (V76I)	Single nucleotide variant (missense variant +1 more)	Cystinosis	GUncertain significance
Select item 990028	NM_004937.3(CTNS):c.140+3A>G	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +2 more	GUncertain significance
Select item 990027	NM_004937.3(CTNS):c.123C>T (p.Asn41=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 990026	NM_004937.3(CTNS):c.-643G>A	CTNS	Single nucleotide variant	Cystinosis	GUncertain significance
Select item 990025	NM_004937.3(CTNS):c.-645C>T	CTNS	Single nucleotide variant	Cystinosis	GUncertain significance
Select item 988187	NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del	CTNS	Deletion	Cystinosis	GPathogenic
Select item 966528	NM_004937.3(CTNS):c.681+1G>A	CTNS, CTNS-AS1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 952419	NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)	CTNS (R47W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 935444	NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)	CTNS, CTNS-AS1 (Q145*)	Single nucleotide variant (nonsense +1 more)	Ocular cystinosis +2 more	GPathogenic
Select item 889140	NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)	CTNS, CTNS-AS1 (R152W +1 more)	Single nucleotide variant (missense variant)	CTNS-related disorder +3 more	GUncertain significance
Select item 852141	NM_004937.3(CTNS):c.61_61+2del	CTNS	Deletion (splice donor variant +1 more)	Ocular cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 841093	NM_004937.3(CTNS):c.1029C>A (p.Ile343=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 798720	NM_004937.3(CTNS):c.621C>T (p.Phe207=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 789618	NM_004937.3(CTNS):c.461+10del	CTNS, CTNS-AS1	Deletion (intron variant)	Ocular cystinosis +2 more	GLikely benign
Select item 786644	NM_004937.3(CTNS):c.327C>T (p.Thr109=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Ocular cystinosis +3 more	GBenign/Likely benign
Select item 786643	NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)	CTNS (D74N)	Single nucleotide variant (missense variant +2 more)	Ocular cystinosis +2 more	GLikely benign
Select item 765982	NM_004937.3(CTNS):c.510C>T (p.Phe170=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 764463	NM_004937.3(CTNS):c.117G>A (p.Ser39=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 761840	NM_004937.3(CTNS):c.341G>A (p.Arg114His)	CTNS, CTNS-AS1 (R114H)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +2 more	GLikely benign
Select item 757755	NM_004937.3(CTNS):c.852+8C>T	CTNS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 740597	NM_004937.3(CTNS):c.684C>T (p.Arg228=)	CTNS-AS1, CTNS	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 736454	NM_004937.3(CTNS):c.966C>T (p.Asn322=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 730692	NM_004937.3(CTNS):c.897T>C (p.Ile299=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GLikely benign
Select item 716783	NM_004937.3(CTNS):c.834G>A (p.Leu278=)	CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GBenign
Select item 715414	NM_004937.3(CTNS):c.534C>T (p.Ile178=)	CTNS-AS1, CTNS	Single nucleotide variant (synonymous variant)	Ocular cystinosis +2 more	GBenign
Select item 714823	NM_004937.3(CTNS):c.285A>T (p.Gly95=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant +1 more)	Juvenile nephropathic cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 712938	NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)	CTNS, CTNS-AS1 (A122T)	Single nucleotide variant (missense variant +1 more)	Juvenile nephropathic cystinosis +4 more	GConflicting classifications of pathogenicity
Select item 651886	NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	CTNS, CTNS-AS1 (S141F)	Single nucleotide variant (missense variant +1 more)	Ocular cystinosis +5 more	GPathogenic/Likely pathogenic
Select item 648616	NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)	CTNS (L278P +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GUncertain significance
Select item 632779	NM_004937.3(CTNS):c.423del (p.Phe142fs)	CTNS, CTNS-AS1 (F142fs)	Deletion (frameshift variant +1 more)	Cystinosis	GLikely pathogenic
Select item 574468	NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)	CTNS (P361L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 558923	NM_004937.3(CTNS):c.-634C>T	CTNS	Single nucleotide variant	not provided	GBenign
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 551688	NM_004937.3(CTNS):c.696_697dup (p.Val233fs)	CTNS, CTNS-AS1 (V233fs +1 more)	Microsatellite (frameshift variant)	Nephropathic cystinosis +4 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 526030	NM_004937.3(CTNS):c.971-12G>A	CTNS	Single nucleotide variant (intron variant)	Ocular cystinosis +4 more	GPathogenic
Select item 505009	NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)	CTNS (Y290* +1 more)	Single nucleotide variant (nonsense)	Cystinosis +1 more	GPathogenic/Likely pathogenic
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 496276	NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	CTNS (G258fs +1 more)	Deletion (frameshift variant)	Ocular cystinosis +5 more	GPathogenic
Select item 496275	NM_004937.3(CTNS):c.480C>T (p.Phe160=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Ocular cystinosis +4 more	GConflicting classifications of pathogenicity
Select item 455787	NM_004937.3(CTNS):c.206_210del (p.Ile69fs)	CTNS (I69fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis +4 more	GPathogenic
Select item 371084	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS, CTNS-AS1 (T216fs +1 more)	Duplication (frameshift variant)	Nephropathic cystinosis +3 more	GPathogenic
Select item 322914	NM_004937.3(CTNS):c.*2383dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GBenign
Select item 322906	NM_004937.3(CTNS):c.1956_1957del	CTNS	Deletion (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322905	NM_004937.3(CTNS):c.*1957del	CTNS	Deletion (3 prime UTR variant)	Cystinosis +1 more	GBenign
Select item 322904	NM_004937.3(CTNS):c.*1957dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322884	NM_004937.3(CTNS):c.1176_1179del	CTNS	Deletion (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322883	NM_004937.3(CTNS):c.*1174CT[1]	CTNS	Microsatellite (3 prime UTR variant)	Cystinosis +1 more	GLikely benign
Select item 322876	NM_004937.3(CTNS):c.1046_1047dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322875	NM_004937.3(CTNS):c.*1047dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322874	NM_004937.3(CTNS):c.1033_1034insGGC	CTNS	Insertion (3 prime UTR variant)	Cystinosis +1 more	GUncertain significance
Select item 322873	NM_004937.3(CTNS):c.1031_1033dup	CTNS	Duplication (3 prime UTR variant)	Cystinosis +1 more	GLikely benign
Select item 322870	NM_004937.3(CTNS):c.1024_1030delinsTGAAGCTGTC	CTNS	Indel (3 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 322844	NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	CTNS (D324N +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +4 more	GUncertain significance
Select item 322842	NM_004937.3(CTNS):c.695G>A (p.Arg232His)	CTNS (R232H +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +3 more	GConflicting classifications of pathogenicity
Select item 322836	NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)	CTNS (S39L)	Single nucleotide variant (missense variant +2 more)	Nephropathic cystinosis +5 more	GConflicting classifications of pathogenicity
Select item 322835	NM_004937.3(CTNS):c.108C>T (p.Asn36=)	CTNS	Single nucleotide variant (synonymous variant +2 more)	Nephropathic cystinosis +5 more	GBenign/Likely benign
Select item 322834	NM_004937.3(CTNS):c.94G>A (p.Val32Ile)	CTNS (V32I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 322831	NM_004937.3(CTNS):c.-23AG[1]	CTNS	Microsatellite (5 prime UTR variant)	Nephropathic cystinosis +1 more	GUncertain significance
Select item 288254	NM_004937.3(CTNS):c.462-7C>A	CTNS-AS1, CTNS	Single nucleotide variant (intron variant)	Nephropathic cystinosis +5 more	GBenign/Likely benign
Select item 284194	NM_004937.3(CTNS):c.969C>T (p.Asn323=)	CTNS	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 267310	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS (G308R +1 more)	Single nucleotide variant (missense variant)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 267308	NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	CTNS, CTNS-AS1 (W182R +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +2 more	GLikely pathogenic
Select item 267307	NM_004937.3(CTNS):c.397A>T (p.Ile133Phe)	CTNS-AS1, CTNS (I133F)	Single nucleotide variant (missense variant +1 more)	Cystinosis	Gnot provided
Select item 267306	NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	CTNS-AS1, CTNS (Q128*)	Single nucleotide variant (nonsense +1 more)	Nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic
Select item 257157	NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)	CTNS (T260I +1 more)	Single nucleotide variant (missense variant)	Ocular cystinosis +5 more	GBenign
Select item 257156	NM_004937.3(CTNS):c.561+4C>T	CTNS, CTNS-AS1	Single nucleotide variant (intron variant)	Ocular cystinosis +5 more	GConflicting classifications of pathogenicity
Select item 257154	NM_004937.3(CTNS):c.504G>A (p.Thr168=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	Nephropathic cystinosis +5 more	GBenign
Select item 257153	NM_004937.3(CTNS):c.462T>C (p.Ser154=)	CTNS, CTNS-AS1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 253209	NM_004937.3(CTNS):c.120del (p.Asn41fs)	CTNS (N41fs)	Deletion (frameshift variant +2 more)	Cystinosis	GPathogenic
Select item 253208	NM_004937.3(CTNS):c.91dup (p.Val31fs)	CTNS (V31fs)	Duplication (frameshift variant +2 more)	Cystinosis	GPathogenic
Select item 253207	NM_004937.2:c.661insT	CTNS	Insertion	Cystinosis	GPathogenic
Select item 253206	NM_004937.3(CTNS):c.257_258del (p.Ser86fs)	CTNS, CTNS-AS1 (S86fs)	Microsatellite (frameshift variant +1 more)	Ocular cystinosis +2 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 198524	NM_004937.3(CTNS):c.356G>A (p.Arg119His)	CTNS, CTNS-AS1 (R119H)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
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 188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS (T7fs)	Deletion (frameshift variant +2 more)	Nephropathic cystinosis +6 more	GPathogenic
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 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 21442	NM_004937.3(CTNS):c.559_561+24del	CTNS, CTNS-AS1	Deletion (splice donor variant)	Infantile nephropathic cystinosis +4 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2