ClinVar for MedGen (Select 411553) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 156

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499477	NM_004183.4(BEST1):c.811C>A (p.Leu271Ile)	BEST1 (L165I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1804163	NM_004183.4(BEST1):c.932T>G (p.Val311Gly)	FTH1, BEST1 (S379A +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 1709319	NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)	BEST1 (T6K)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GLikely pathogenic
Select item 1708406	NM_004183.4(BEST1):c.901G>C (p.Asp301His)	BEST1 (D195H +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 1708389	NM_004183.4(BEST1):c.364C>T (p.Arg122Trp)	BEST1 (R122W +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 1685569	NM_004183.4(BEST1):c.737G>A (p.Ser246Asn)	BEST1 (S140N +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 1213960	NM_004183.4(BEST1):c.283A>T (p.Asn95Tyr)	BEST1 (N35Y +1 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 1192494	NM_004183.4(BEST1):c.636+44C>T	BEST1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1192353	NM_004183.4(BEST1):c.868-99G>T	BEST1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 50 +4 more	GBenign
Select item 1181045	NM_004183.4(BEST1):c.867+327T>G	BEST1	Single nucleotide variant (intron variant)	Autosomal recessive bestrophinopathy +4 more	GBenign
Select item 1074134	NM_004183.4(BEST1):c.1066C>T (p.Arg356Ter)	BEST1 (R250* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1069280	NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter)	BEST1 (E194* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065753	NM_004183.4(BEST1):c.974T>C (p.Met325Thr)	BEST1 (C393R +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1065726	NM_004183.4(BEST1):c.968A>T (p.Asp323Val)	BEST1 (D217V +4 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 1048121	NM_004183.4(BEST1):c.907G>T (p.Asp303Tyr)	BEST1 (D197Y +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 1018244	NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg)	BEST1 (K187R +4 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant vitreoretinochoroidopathy +4 more	GUncertain significance
Select item 1004951	NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)	BEST1 (E107G +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +2 more	GConflicting classifications of pathogenicity
Select item 999701	NM_004183.4(BEST1):c.427G>C (p.Val143Leu)	BEST1 (V143L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 973731	NM_000322.5(PRPH2):c.974_977del (p.Lys325fs)	PRPH2 (K325fs)	Deletion (frameshift variant)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 973708	NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)	PRPH2 (Y204*)	Single nucleotide variant (nonsense)	Stargardt disease +3 more	GPathogenic
Select item 960540	NM_016247.4(IMPG2):c.2872A>G (p.Ser958Gly)	IMPG2 (S958G)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 2 +1 more	GConflicting classifications of pathogenicity
Select item 932077	NM_004183.4(BEST1):c.313C>G (p.Arg105Gly)	BEST1 (R45G +1 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 931891	NM_004183.4(BEST1):c.1444del (p.Glu482fs)	BEST1 (E376fs +4 more)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 931318	NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del)	BEST1 (N119del +2 more)	Microsatellite (inframe_deletion +2 more)	not provided +2 more	GUncertain significance
Select item 930889	NM_004183.4(BEST1):c.969T>A (p.Asp323Glu)	BEST1 (D236E +4 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 880474	NM_002032.3(FTH1):c.*336A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 879188	NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu)	BEST1 (E424* +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 878688	NM_004183.4(BEST1):c.*45T>C	BEST1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 878590	NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)	BEST1 (R225W +4 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant vitreoretinochoroidopathy +3 more	GConflicting classifications of pathogenicity
Select item 878549	NM_004183.4(BEST1):c.482-15C>T	BEST1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 877632	NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys)	BEST1 (E363K +4 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 877569	NM_004183.4(BEST1):c.822C>T (p.Pro274=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 877528	NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)	BEST1 (P101L +1 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 877527	NM_004183.4(BEST1):c.229C>A (p.Pro77Thr)	BEST1 (P17T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 866397	NM_000322.5(PRPH2):c.620A>G (p.Asp207Gly)	PRPH2 (D207G)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 2 +2 more	GUncertain significance
Select item 866239	NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)	PRPH2 (S301fs)	Deletion (frameshift variant)	Patterned dystrophy of the retinal pigment epithelium +3 more	GPathogenic/Likely pathogenic
Select item 865923	NM_004183.4(BEST1):c.35C>G (p.Ala12Gly)	BEST1 (A12G)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GUncertain significance
Select item 829895	NM_004183.4(BEST1):c.424_426dup (p.Ser142dup)	BEST1	Duplication (inframe_insertion +2 more)	Vitelliform macular dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 813258	NM_016247.4(IMPG2):c.455G>A (p.Gly152Asp)	IMPG2 (G152D)	Single nucleotide variant (missense variant)	Vitelliform macular dystrophy 2	GPathogenic
Select item 813082	NM_000322.5(PRPH2):c.582-1G>C	PRPH2	Single nucleotide variant (splice acceptor variant)	Vitelliform macular dystrophy 2 +1 more	GPathogenic
Select item 813048	NM_001563.4(IMPG1):c.807+1G>C	IMPG1	Single nucleotide variant (splice donor variant)	Vitelliform macular dystrophy 2	GPathogenic
Select item 813025	NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter)	BEST1 (Q115* +4 more)	Single nucleotide variant (nonsense +2 more)	Vitelliform macular dystrophy 2 +1 more	GPathogenic
Select item 813024	NM_004183.4(BEST1):c.851A>T (p.Tyr284Phe)	BEST1 (Y224F +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 812384	NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)	PRPH2 (L271del)	Microsatellite (inframe_deletion)	PRPH2-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 812233	NM_004183.4(BEST1):c.908A>T (p.Asp303Val)	BEST1 (D243V +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 812231	NM_004183.4(BEST1):c.404G>A (p.Gly135Asp)	BEST1 (G135D +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 812230	NM_004183.4(BEST1):c.294G>C (p.Glu98Asp)	BEST1 (E38D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 812229	NM_004183.4(BEST1):c.218T>A (p.Ile73Asn)	BEST1 (I13N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 802679	NM_004183.4(BEST1):c.172C>G (p.Gln58Glu)	BEST1 (Q58E)	Single nucleotide variant (5 prime UTR variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 636003	NM_004183.4(BEST1):c.936C>A (p.Asp312Glu)	BEST1 (D312E +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 636002	NM_004183.4(BEST1):c.905A>C (p.Asp302Ala)	BEST1 (D302A +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 636001	NM_004183.4(BEST1):c.904G>A (p.Asp302Asn)	BEST1 (D302N +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 636000	NM_004183.4(BEST1):c.58C>G (p.Leu20Val)	BEST1 (L20V)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 635999	NM_004183.4(BEST1):c.295A>C (p.Asn99His)	BEST1 (N99H +1 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 635998	NM_004183.4(BEST1):c.287A>G (p.Gln96Arg)	BEST1 (Q96R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 632163	NM_004183.4(BEST1):c.1415del (p.Leu472fs)	BEST1 (L366fs +4 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 623293	NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys)	BEST1 (Y29C)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +1 more	GLikely pathogenic
Select item 623155	NM_004183.4(BEST1):c.915T>G (p.Phe305Leu)	BEST1 (F305L +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 559498	NM_004183.4(BEST1):c.888C>G (p.Asn296Lys)	BEST1 (N296K +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 548451	NM_004183.4(BEST1):c.241G>A (p.Val81Met)	BEST1 (V81M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 544680	NM_004183.4(BEST1):c.324C>G (p.Ser108Arg)	BEST1 (S108R +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 544679	NM_004183.4(BEST1):c.544T>C (p.Trp182Arg)	BEST1 (W182R +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Vitelliform macular dystrophy 2	GUncertain significance
Select item 544678	NM_004183.4(BEST1):c.874G>C (p.Glu292Gln)	BEST1 (E292Q +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 496689	NM_004183.4(BEST1):c.910G>A (p.Asp304Asn)	BEST1 (D304N +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 444256	NM_004183.4(BEST1):c.712del (p.Gln238fs)	BEST1 (Q132fs +2 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438579	NM_004183.4(BEST1):c.26T>G (p.Val9Gly)	BEST1 (V9G)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 438484	NM_004183.4(BEST1):c.535A>G (p.Asn179Asp)	BEST1 (N179D +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 386501	NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)	BEST1 (A352T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 342339	NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp)	IMPG2 (R1048W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 305145	NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)	BEST1, FTH1 (K54R)	Single nucleotide variant (missense variant +1 more)	FTH1-related condition +6 more	GBenign/Likely benign
Select item 305143	NM_002032.3(FTH1):c.387+12A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant vitreoretinochoroidopathy +5 more	GBenign/Likely benign
Select item 305139	NM_002032.3(FTH1):c.*222C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 305138	NM_002032.3(FTH1):c.*312A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant vitreoretinochoroidopathy +3 more	GUncertain significance
Select item 305137	NM_002032.3(FTH1):c.*319G>A	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +5 more	GBenign/Likely benign
Select item 305135	NM_002032.3(FTH1):c.*389A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 305134	NM_002032.3(FTH1):c.*396A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 305133	NM_004183.4(BEST1):c.*133T>C	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Iron Overload +5 more	GBenign/Likely benign
Select item 305132	NM_004183.4(BEST1):c.*24C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Vitelliform macular dystrophy 2 +5 more	GConflicting classifications of pathogenicity
Select item 305131	NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly)	BEST1 (E528G +4 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 305130	NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)	BEST1, FTH1 (S507P +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +6 more	GConflicting classifications of pathogenicity
Select item 305129	NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu)	BEST1 (P486L +4 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +2 more	GUncertain significance
Select item 305128	NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr)	BEST1 (A444T +4 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +2 more	GUncertain significance
Select item 305127	NM_004183.4(BEST1):c.1157A>C (p.His386Pro)	BEST1 (H386P +4 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +2 more	GUncertain significance
Select item 305126	NM_004183.4(BEST1):c.1143C>T (p.Asp381=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 305125	NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)	FTH1, BEST1 (A357V +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 305124	NM_004183.4(BEST1):c.1064G>A (p.Arg355His)	BEST1, FTH1 (R355H +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 305123	NM_004183.4(BEST1):c.954C>G (p.Ser318=)	BEST1 (P386R)	Single nucleotide variant (synonymous variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 305122	NM_004183.4(BEST1):c.813C>T (p.Leu271=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 305121	NM_004183.4(BEST1):c.699A>G (p.Pro233=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 305120	NM_004183.4(BEST1):c.351G>A (p.Lys117=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 305119	NM_004183.4(BEST1):c.213C>T (p.Ser71=)	BEST1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +3 more	GBenign/Likely benign
Select item 305118	NM_004183.4(BEST1):c.152+6G>T	BEST1	Single nucleotide variant (intron variant)	Autosomal dominant vitreoretinochoroidopathy +3 more	GConflicting classifications of pathogenicity
Select item 305116	NM_004183.4(BEST1):c.-66G>T	BEST1	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 305115	NM_004183.3(BEST1):c.-121C>T	BEST1	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 305114	NM_004183.3(BEST1):c.-125G>A	BEST1	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 305113	NM_004183.3(BEST1):c.-221T>C	BEST1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 305112	NM_004183.3(BEST1):c.-329C>T	BEST1	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 305111	NM_004183.3(BEST1):c.-373T>A	BEST1	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GLikely benign
Select item 305110	NM_004183.3(BEST1):c.-428C>T	BEST1	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GLikely benign
Select item 305109	NM_004183.3(BEST1):c.-536T>C	BEST1	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Recessive +2 more	GLikely benign

<< First< Prev

Page of 2