Related gene-specific medical variations for Gene (Select 7439) - ClinVar

Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367827	NM_002032.3(FTH1):c.376A>C (p.Asn126His)	BEST1, FTH1 (N126H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359098	NM_004183.4(BEST1):c.551_552delinsT (p.Pro184fs)	BEST1 (P124fs +2 more)	Indel (frameshift variant +2 more)	Autosomal recessive bestrophinopathy	GPathogenic
Select item 3346278	NM_002032.3(FTH1):c.277G>A (p.Asp93Asn)	BEST1, FTH1 (D93N)	Single nucleotide variant (missense variant +1 more)	FTH1-related disorder	GUncertain significance
Select item 3342086	NM_002032.3(FTH1):c.273_274del (p.Cys91_Asp92delinsTer)	BEST1, FTH1	Microsatellite (nonsense +1 more)	not provided	GUncertain significance
Select item 3280128	NM_002032.3(FTH1):c.334A>C (p.Asn112His)	BEST1, FTH1 (N112H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256722	NM_004183.4(BEST1):c.764G>A (p.Arg255Gln)	BEST1 (R149Q +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy	Gnot provided
Select item 3256721	NM_004183.4(BEST1):c.235dup (p.Ser79fs)	BEST1 (S19fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive bestrophinopathy	Gnot provided
Select item 3256720	NM_004183.4(BEST1):c.88A>G (p.Lys30Glu)	BEST1 (K30E)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	Gnot provided
Select item 3046577	NM_002032.3(FTH1):c.*5C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	FTH1-related disorder	GLikely benign
Select item 3008084	NM_002032.3(FTH1):c.129C>T (p.Asp43=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895104	NM_002032.3(FTH1):c.239G>A (p.Arg80Gln)	BEST1, FTH1 (R80Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2883688	NM_002032.3(FTH1):c.330T>C (p.Asn110=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872045	NM_002032.3(FTH1):c.209T>C (p.Leu70Pro)	BEST1, FTH1 (L70P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2833850	NM_002032.3(FTH1):c.445T>G (p.Leu149Val)	BEST1, FTH1 (L149V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723880	NM_002032.3(FTH1):c.456C>T (p.His152=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2696330	NM_002032.3(FTH1):c.525C>T (p.Thr175=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2685999	NM_002032.3(FTH1):c.512_513del (p.Leu170_Phe171insTer)	BEST1, FTH1	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 2685998	NM_002032.3(FTH1):c.487_490dup (p.Ser164Ter)	BEST1, FTH1 (S164*)	Duplication (nonsense +1 more)	Neurodegeneration with brain iron accumulation 9	GPathogenic
Select item 2636131	NM_002032.3(FTH1):c.514G>A (p.Asp172Asn)	BEST1, FTH1 (D172N)	Single nucleotide variant (missense variant +1 more)	FTH1-related disorder	GUncertain significance
Select item 2538734	NM_002032.3(FTH1):c.355C>T (p.His119Tyr)	BEST1, FTH1 (H119Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531974	NM_002032.3(FTH1):c.374A>G (p.Lys125Arg)	BEST1, FTH1 (K125R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518228	NM_002032.3(FTH1):c.482C>T (p.Ala161Val)	BEST1, FTH1 (A161V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307633	NM_002032.3(FTH1):c.442G>C (p.Glu148Gln)	BEST1, FTH1 (E148Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2190649	NM_002032.3(FTH1):c.410A>G (p.His137Arg)	BEST1, FTH1 (H137R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2164870	NM_002032.3(FTH1):c.198T>C (p.His66=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2057102	NM_002032.3(FTH1):c.486C>T (p.Pro162=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2050429	NM_002032.3(FTH1):c.298_299delinsAA (p.Ala100Lys)	BEST1, FTH1 (A100K)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2049826	NM_002032.3(FTH1):c.249T>G (p.Leu83=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1912391	NM_002032.3(FTH1):c.436A>G (p.Ile146Val)	BEST1, FTH1 (I146V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308207	NM_004183.2(BEST1):c.*730C>G	BEST1, FTH1 (V143L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298005	NM_002032.3(FTH1):c.261+23_261+29dup	BEST1, FTH1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 987428	NM_004183.4(BEST1):c.277T>C (p.Trp93Arg)	BEST1 (W33R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 987408	NM_004183.4(BEST1):c.182del (p.Met61fs)	BEST1 (M1fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 987370	NM_004183.4(BEST1):c.693T>A (p.Ser231Arg)	BEST1 (S125R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
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 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 878748	NM_002032.3(FTH1):c.*159C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 867173	NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter)	BEST1 (E478* +4 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866930	NM_004183.4(BEST1):c.1062C>G (p.Phe354Leu)	BEST1 (F354L +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866671	NM_004183.4(BEST1):c.248-2A>G	BEST1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866640	NM_004183.4(BEST1):c.97T>G (p.Tyr33Asp)	BEST1 (Y33D)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 866481	NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter)	BEST1 (S411* +4 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866163	NM_004183.4(BEST1):c.539T>C (p.Met180Thr)	BEST1 (M120T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 865877	NM_004183.4(BEST1):c.530C>T (p.Pro177Leu)	BEST1 (P177L +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 865876	NM_004183.4(BEST1):c.169G>T (p.Glu57Ter)	BEST1 (E57*)	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy	GLikely pathogenic
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 806680	NM_004183.4(BEST1):c.534C>T (p.His178=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 546666	NM_004183.4(BEST1):c.888C>A (p.Asn296Lys)	BEST1 (N296K +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely pathogenic
Select item 375235	NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del	BEST1	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 305145	NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)	BEST1, FTH1 (K54R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 305144	NM_002032.3(FTH1):c.208C>T (p.Leu70=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	Hemochromatosis type 5	GUncertain significance
Select item 305143	NM_002032.3(FTH1):c.387+12A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 305142	NM_002032.3(FTH1):c.388-5T>C	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Hemochromatosis type 5	GBenign
Select item 305141	NM_002032.3(FTH1):c.413A>T (p.Tyr138Phe)	FTH1, BEST1 (Y138F)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 5	GUncertain significance
Select item 305140	NM_002032.3(FTH1):c.*165T>C	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 305139	NM_002032.3(FTH1):c.*222C>T	FTH1, BEST1	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)	not provided +4 more	GUncertain significance
Select item 305137	NM_002032.3(FTH1):c.*319G>A	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 305136	NM_002032.3(FTH1):c.*385T>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Iron Overload	GUncertain significance
Select item 305135	NM_002032.3(FTH1):c.*389A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant vitreoretinochoroidopathy +5 more	GConflicting classifications of pathogenicity
Select item 305134	NM_002032.3(FTH1):c.*396A>G	FTH1, BEST1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant vitreoretinochoroidopathy +4 more	GConflicting classifications of pathogenicity
Select item 99787	NM_004183.4(BEST1):c.949-21del	BEST1	Deletion (intron variant)	not provided	Gnot provided
Select item 99783	NM_004183.4(BEST1):c.923A>G (p.Asn308Ser)	BEST1 (N308S +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	Gnot provided
Select item 99760	NM_004183.4(BEST1):c.880C>G (p.Leu294Val)	BEST1 (L294V +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	Gnot provided
Select item 99759	NM_004183.4(BEST1):c.87C>T (p.Tyr29=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 99753	NM_004183.4(BEST1):c.81C>G (p.Ser27Arg)	BEST1 (S27R)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99746	NM_004183.4(BEST1):c.710C>G (p.Thr237Arg)	BEST1 (T237R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99745	NM_004183.4(BEST1):c.703G>C (p.Val235Leu)	BEST1 (V235L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99742	NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)	BEST1 (S231R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 99740	NM_004183.4(BEST1):c.670C>A (p.Leu224Met)	BEST1 (L224M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99737	NM_004183.4(BEST1):c.654T>C (p.Arg218=)	BEST1	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 99731	NM_004183.4(BEST1):c.636+1G>C	BEST1	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 99724	NM_004183.4(BEST1):c.50T>G (p.Phe17Cys)	BEST1 (F17C)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99722	NM_004183.4(BEST1):c.445A>T (p.Lys149Ter)	BEST1 (K149* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	Gnot provided
Select item 99720	NM_004183.4(BEST1):c.419T>G (p.Leu140Arg)	BEST1 (L140R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99715	NM_004183.4(BEST1):c.32A>T (p.Asn11Ile)	BEST1 (N11I)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99713	NM_004183.4(BEST1):c.312C>A (p.Asp104Glu)	BEST1 (D104E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99711	NM_004183.4(BEST1):c.304T>C (p.Trp102Arg)	BEST1 (W102R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99700	NM_004183.4(BEST1):c.26T>C (p.Val9Ala)	BEST1 (V9A)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 99699	NM_004183.4(BEST1):c.248-32C>T	BEST1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 99698	NM_004183.4(BEST1):c.248-26C>T	BEST1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 99697	NM_004183.4(BEST1):c.248-12C>T	BEST1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 99694	NM_004183.4(BEST1):c.222G>A (p.Gln74=)	BEST1	Single nucleotide variant (synonymous variant +1 more)	not provided	Gnot provided
Select item 99692	NM_004183.4(BEST1):c.217A>C (p.Ile73Leu)	BEST1 (I73L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 99690	NM_004183.4(BEST1):c.*89dup	BEST1	Duplication (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 99688	NM_004183.4(BEST1):c.1740-27T>C	BEST1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	Gnot provided
Select item 99687	NM_004183.4(BEST1):c.173A>T (p.Gln58Leu)	BEST1 (Q58L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	Gnot provided
Select item 99677	NM_004183.4(BEST1):c.1026G>A (p.Glu342=)	BEST1 (S410N)	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided

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Items: 89