ClinVar for MedGen (Select 462552) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1691

<< First< Prev

Page of 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247806	NC_000001.10:g.(?_197404386)_(197410804_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247805	NC_000001.10:g.(?_197297532)_(197411442_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247804	NC_000001.10:g.(?_197237543)_(197237632_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247803	NC_000001.10:g.(?_197237543)_(197447009_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3241220	NM_201253.3(CRB1):c.2842+1G>A	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241219	NM_201253.3(CRB1):c.3755dup (p.Ser1252fs)	CRB1 (S1140fs +3 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241218	NM_201253.3(CRB1):c.1292_1295delinsGG (p.Thr431fs)	CRB1 (T319fs +2 more)	Indel (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241217	NM_201253.3(CRB1):c.863del (p.Cys288fs)	CRB1 (C219fs +1 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241216	NM_201253.3(CRB1):c.413_417del (p.Ala138fs)	CRB1 (A138fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241215	NM_201253.3(CRB1):c.573_577del (p.Asp193fs)	CRB1 (D124fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241214	NM_201253.3(CRB1):c.988+1G>T	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3241213	NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)	CRB1 (C1031* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241212	NM_201253.3(CRB1):c.2408dup (p.Tyr803Ter)	CRB1 (Y691* +2 more)	Duplication (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241211	NM_201253.3(CRB1):c.3335del (p.Asn1112fs)	CRB1 (N1000fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241210	NM_201253.3(CRB1):c.3023T>G (p.Leu1008Ter)	CRB1 (L1008* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3241209	NM_201253.3(CRB1):c.3750-3_3750-2del	CRB1	Deletion (splice acceptor variant)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3233624	NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)	CRB1 (D452Y +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 2954495	NM_201253.3(CRB1):c.2961A>G (p.Val987=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2954108	NM_201253.3(CRB1):c.1782del (p.Ala595fs)	CRB1 (A595fs +2 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2954058	NM_201253.3(CRB1):c.652+17C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2954007	NM_201253.3(CRB1):c.345C>G (p.Gly115=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953934	NM_201253.3(CRB1):c.4006-11A>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953793	NM_201253.3(CRB1):c.2129-1G>T	CRB1	Single nucleotide variant (splice acceptor variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2953637	NM_201253.3(CRB1):c.3950del (p.Asn1317fs)	CRB1 (N1205fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2953210	NM_201253.3(CRB1):c.988+17C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953194	NM_201253.3(CRB1):c.2843-5A>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953188	NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)	CRB1 (L346* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952943	NM_201253.3(CRB1):c.198C>T (p.Asp66=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952923	NM_201253.3(CRB1):c.1172-8T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952692	NM_201253.3(CRB1):c.70+13C>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952686	NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)	CRB1 (C190* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952616	NM_201253.3(CRB1):c.249C>T (p.Ala83=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952452	NM_201253.3(CRB1):c.1074C>A (p.Ser358=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952282	NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)	CRB1 (W654* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952266	NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)	CRB1	Duplication (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952231	NM_201253.3(CRB1):c.2814G>A (p.Gln938=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952042	NM_201253.3(CRB1):c.652+14T>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951952	NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)	CRB1 (C1141* +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2951913	NM_201253.3(CRB1):c.2904dup (p.Ile969fs)	CRB1 (I969fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2951687	NM_201253.3(CRB1):c.652+20A>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951586	NM_201253.3(CRB1):c.1408C>T (p.Leu470=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951295	NM_201253.3(CRB1):c.2205C>T (p.Asp735=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951242	NM_201253.3(CRB1):c.3069G>A (p.Leu1023=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951234	NM_201253.3(CRB1):c.981C>T (p.Cys327=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951232	NM_201253.3(CRB1):c.2543del (p.Phe848fs)	CRB1 (F736fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2951170	NM_201253.3(CRB1):c.477T>C (p.Asn159=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951101	NM_201253.3(CRB1):c.3279G>A (p.Leu1093=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950994	NM_201253.3(CRB1):c.1171+8C>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950864	NM_201253.3(CRB1):c.1665T>C (p.Leu555=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950847	NM_201253.3(CRB1):c.1929C>T (p.Leu643=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950712	NM_201253.3(CRB1):c.3411T>C (p.Cys1137=)	CRB1	Single nucleotide variant (non-coding transcript variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950593	NM_201253.3(CRB1):c.873T>C (p.Ser291=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950582	NM_201253.3(CRB1):c.1593G>A (p.Val531=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950516	NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)	CRB1 (P1281R +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 2950072	NM_201253.3(CRB1):c.3189C>T (p.Thr1063=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949996	NM_201253.3(CRB1):c.2190T>C (p.Asp730=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949995	NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)	CRB1 (E794* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2949904	NM_201253.3(CRB1):c.954C>T (p.Asp318=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949768	NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)	CRB1 (A138D +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2949683	NM_201253.3(CRB1):c.3936C>T (p.Cys1312=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949679	NM_201253.3(CRB1):c.2382C>T (p.His794=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949617	NM_201253.3(CRB1):c.4101T>C (p.Val1367=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949518	NM_201253.3(CRB1):c.4164C>T (p.Gly1388=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949412	NM_201253.3(CRB1):c.1879C>T (p.Leu627=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2948977	NM_201253.3(CRB1):c.3762del (p.Leu1254fs)	CRB1 (L1142fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2948686	NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)	CRB1 (E1280fs +3 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2948678	NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2948645	NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro)	CRB1 (Q679P +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2948332	NM_201253.3(CRB1):c.396T>C (p.Pro132=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947955	NM_201253.3(CRB1):c.2129-5T>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947916	NM_201253.3(CRB1):c.1326C>T (p.Leu442=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947621	NM_201253.3(CRB1):c.948T>C (p.Cys316=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947402	NM_201253.3(CRB1):c.174C>T (p.Asp58=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947238	NM_201253.3(CRB1):c.652+14T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947236	NM_201253.3(CRB1):c.3878+7C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947048	NM_201253.3(CRB1):c.3749+17T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947023	NM_201253.3(CRB1):c.3749+15C>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946870	NM_201253.3(CRB1):c.652+18_652+19del	CRB1	Deletion (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946762	NM_201253.3(CRB1):c.408C>T (p.Cys136=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946688	NM_201253.3(CRB1):c.786C>T (p.Asn262=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946614	NM_201253.3(CRB1):c.909T>C (p.Pro303=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946563	NM_201253.3(CRB1):c.652+13AT[3]	CRB1	Microsatellite (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946448	NM_201253.3(CRB1):c.3055_3059dup (p.Met1020fs)	CRB1 (M1020fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2946414	NM_201253.3(CRB1):c.2307C>G (p.Arg769=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945989	NM_201253.3(CRB1):c.1668G>C (p.Leu556=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945870	NM_201253.3(CRB1):c.3867T>C (p.Phe1289=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945863	NM_201253.3(CRB1):c.70+1G>C	CRB1	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2945671	NM_201253.3(CRB1):c.2343A>G (p.Lys781=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945506	NM_201253.3(CRB1):c.3531C>T (p.Asn1177=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945465	NM_201253.3(CRB1):c.228C>T (p.Ser76=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945443	NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)	CRB1 (C1072* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2945434	NM_201253.3(CRB1):c.495T>C (p.Asp165=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945265	NM_201253.3(CRB1):c.2736C>T (p.Ser912=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2945240	NM_201253.3(CRB1):c.1389C>G (p.Gly463=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2944678	NM_201253.3(CRB1):c.2097C>T (p.His699=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2944553	NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)	CRB1 (C784F +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 2944499	NM_201253.3(CRB1):c.3309A>G (p.Gly1103=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2944484	NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)	CRB1 (E1276* +3 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2944131	NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys)	CRB1 (R787K +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2944122	NM_201253.3(CRB1):c.2655T>C (p.Cys885=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign

<< First< Prev

Page of 17