ClinVar for MedGen (Select 854768) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705627	NM_004183.4(BEST1):c.684C>A (p.Asp228Glu)	BEST1 (D122E +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant vitreoretinochoroidopathy	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 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 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 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 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 852739	NM_004183.4(BEST1):c.682G>C (p.Asp228His)	BEST1 (D122H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 305145	NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)	BEST1, FTH1 (K54R)	Single nucleotide variant (missense variant +1 more)	FTH1-related disorder +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)	Vitelliform macular dystrophy 2 +5 more	GBenign
Select item 305138	NM_002032.3(FTH1):c.*312A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +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)	Autosomal dominant vitreoretinochoroidopathy +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 +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)	not provided +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)	Autosomal dominant vitreoretinochoroidopathy +2 more	GUncertain significance
Select item 305114	NM_004183.3(BEST1):c.-125G>A	BEST1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant vitreoretinochoroidopathy +2 more	GUncertain significance
Select item 305113	NM_004183.3(BEST1):c.-221T>C	BEST1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant vitreoretinochoroidopathy +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)	Autosomal dominant vitreoretinochoroidopathy +2 more	GLikely benign
Select item 289316	NM_004183.4(BEST1):c.495G>A (p.Pro165=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 193667	NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)	BEST1, FTH1 (V492I +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +6 more	GBenign/Likely benign
Select item 193666	NM_004183.4(BEST1):c.1410G>A (p.Thr470=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Iron Overload +9 more	GBenign
Select item 166752	NM_004183.4(BEST1):c.618G>A (p.Leu206=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Vitelliform macular dystrophy 2 +6 more	GBenign/Likely benign
Select item 143127	NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	BEST1 (R255W +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +5 more	GPathogenic
Select item 99743	NM_004183.4(BEST1):c.696C>A (p.Ile232=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign
Select item 99735	NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	BEST1 (R218C +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +5 more	GPathogenic/Likely pathogenic
Select item 99732	NM_004183.4(BEST1):c.637-6C>T	BEST1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 99727	NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)	BEST1 (L207I +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant vitreoretinochoroidopathy +6 more	GBenign/Likely benign
Select item 99725	NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	BEST1, FTH1 (A195V +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2 +5 more	GPathogenic/Likely pathogenic
Select item 99693	NM_004183.4(BEST1):c.219C>A (p.Ile73=)	BEST1	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign
Select item 99691	NM_004183.4(BEST1):c.201G>C (p.Leu67=)	BEST1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +5 more	GBenign
Select item 99686	NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)	BEST1, FTH1 (L567F +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +5 more	GLikely benign
Select item 99685	NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala)	BEST1 (T561A +4 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 99684	NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)	BEST1, FTH1 (E557K +4 more)	Single nucleotide variant (missense variant +2 more)	Iron Overload +5 more	GConflicting classifications of pathogenicity
Select item 99682	NM_004183.4(BEST1):c.1608T>C (p.Thr536=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Iron Overload +7 more	GBenign
Select item 99680	NM_004183.4(BEST1):c.1557C>T (p.Ser519=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +7 more	GBenign
Select item 99678	NM_004183.4(BEST1):c.109T>C (p.Leu37=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant vitreoretinochoroidopathy +7 more	GBenign
Select item 99676	NM_004183.4(BEST1):c.1023C>T (p.Pro341=)	BEST1, FTH1 (P409L)	Single nucleotide variant (synonymous variant +2 more)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 2751	NM_004183.4(BEST1):c.704T>C (p.Val235Ala)	BEST1 (V235A +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant vitreoretinochoroidopathy	GPathogenic
Select item 2746	NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)	BEST1 (Y236C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2744	NM_004183.4(BEST1):c.256G>A (p.Val86Met)	BEST1 (V86M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 2741	NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	BEST1 (R200* +2 more)	Single nucleotide variant (nonsense +2 more)	Autosomal dominant vitreoretinochoroidopathy +4 more	GPathogenic
Select item 2737	NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	BEST1 (A243V +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 1 +4 more	GPathogenic/Likely pathogenic

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Items: 71