2495[geneid] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99725	NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	BEST1, FTH1 (A195V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 99734	NM_004183.4(BEST1):c.652C>A (p.Arg218Ser)	BEST1, FTH1 (R218S +2 more)	Single nucleotide variant (missense variant +2 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 99766	NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)	BEST1, FTH1 (P297S +2 more)	Single nucleotide variant (missense variant +4 more)	Vitelliform macular dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1804163	NM_004183.4(BEST1):c.932T>G (p.Val311Gly)	BEST1, FTH1 (S379A +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GPathogenic
Select item 99676	NM_004183.4(BEST1):c.1023C>T (p.Pro341=)	FTH1, BEST1 (P409L)	Single nucleotide variant (synonymous variant +2 more)	Vitelliform macular dystrophy 2 +6 more	GBenign/Likely benign
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 305125	NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)	BEST1, FTH1 (A357V +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant vitreoretinochoroidopathy +6 more	GConflicting classifications of pathogenicity
Select item 3237336	NM_004183.4(BEST1):c.1101-491A>G	BEST1, FTH1	Single nucleotide variant (intron variant)	Autosomal recessive bestrophinopathy	GLikely pathogenic
Select item 305126	NM_004183.4(BEST1):c.1143C>T (p.Asp381=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 193666	NM_004183.4(BEST1):c.1410G>A (p.Thr470=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	not specified +9 more	GBenign
Select item 193667	NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)	BEST1, FTH1 (V492I +4 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant vitreoretinochoroidopathy +6 more	GBenign/Likely benign
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 +5 more	GConflicting classifications of pathogenicity
Select item 99680	NM_004183.4(BEST1):c.1557C>T (p.Ser519=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant vitreoretinochoroidopathy +7 more	GBenign
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 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 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 305132	NM_004183.4(BEST1):c.*24C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +5 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)	Autosomal dominant vitreoretinochoroidopathy +5 more	GBenign/Likely benign
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 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 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 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 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 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 305139	NM_002032.3(FTH1):c.*222C>T	FTH1, BEST1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
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 878748	NM_002032.3(FTH1):c.*159C>T	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
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 2696330	NM_002032.3(FTH1):c.525C>T (p.Thr175=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 2057102	NM_002032.3(FTH1):c.486C>T (p.Pro162=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2723880	NM_002032.3(FTH1):c.456C>T (p.His152=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 2050429	NM_002032.3(FTH1):c.298_299delinsAA (p.Ala100Lys)	BEST1, FTH1 (A100K)	Indel (missense variant +1 more)	not provided	GUncertain significance
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 1298005	NM_002032.3(FTH1):c.261+23_261+29dup	BEST1, FTH1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 1290670	NM_002032.3(FTH1):c.115-263C>T	FTH1, LOC130005815	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231642	NM_002032.3(FTH1):c.114+149C>T	FTH1, LOC130005816	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956594	NM_002032.3(FTH1):c.112A>G (p.Met38Val)	FTH1, LOC130005816 +1 more (M38V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 878749	NM_002032.3(FTH1):c.60C>T (p.Ala20=)	FTH1, LOC399900	Single nucleotide variant (synonymous variant)	Hemochromatosis type 5	GBenign
Select item 3032123	NM_002032.3(FTH1):c.57C>T (p.Ala19=)	FTH1, LOC399900	Single nucleotide variant (synonymous variant +1 more)	FTH1-related disorder	GLikely benign
Select item 3050386	NM_002032.3(FTH1):c.51A>C (p.Ser17=)	FTH1, LOC399900	Single nucleotide variant (synonymous variant +1 more)	FTH1-related disorder	GLikely benign
Select item 305146	NM_002032.3(FTH1):c.-2C>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 879333	NM_002032.3(FTH1):c.-14C>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 879334	NM_002032.3(FTH1):c.-136C>A	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 3060745	NM_002032.3(FTH1):c.-162T>G	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant +1 more)	FTH1-related disorder	GLikely benign
Select item 16490	NM_002032.3(FTH1):c.-164A>T	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GPathogenic
Select item 305147	NM_002032.3(FTH1):c.-204A>G	FTH1, LOC399900	Single nucleotide variant (5 prime UTR variant)	Hemochromatosis type 5	GUncertain significance
Select item 305148	NM_002032.2(FTH1):c.-221G>A	FTH1, LOC130005817 +1 more	Single nucleotide variant (non-coding transcript variant)	Iron Overload	GUncertain significance
Select item 305149	NM_002032.2(FTH1):c.-231G>A	LOC130005817, LOC399900 +1 more	Single nucleotide variant (non-coding transcript variant)	Iron Overload	GUncertain significance
Select item 1297300	NC_000011.10:g.61967704C>A	FTH1, LOC130005817 +1 more	Single nucleotide variant	not provided	GBenign
Select item 1289301	NC_000011.10:g.61967919dup	FTH1, LOC130005817 +1 more	Duplication	not provided	GBenign
Select item 1267071	NC_000011.10:g.61967919del	FTH1, LOC130005817 +1 more	Deletion	not provided	GBenign
Select item 1262697	NC_000011.10:g.61967913_61967914insA	FTH1, LOC130005817 +1 more	Insertion	not provided	GBenign
Select item 1245542	NC_000011.10:g.61967918_61967919insA	FTH1, LOC130005817 +1 more	Insertion	not provided	GBenign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425031	NC_000011.9:g.(?_61731556)_(61735061_?)dup	BEST1, FTH1	Duplication	not provided	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1003753	NC_000011.9:g.(?_61731556)_(61732604_?)dup	BEST1, FTH1	Duplication	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 831570	NC_000011.10:g.(?_61964104)_(61967617_?)dup	BEST1, FTH1	Duplication	not provided	GUncertain significance
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 91