"GeneDx"[submitter] AND "FTH1"[gene] - ClinVar

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Items: 23

	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)	Autosomal recessive bestrophinopathy +5 more	GPathogenic/Likely pathogenic
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 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 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 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)	Autosomal dominant vitreoretinochoroidopathy +7 more	GBenign
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 305135	NM_002032.3(FTH1):c.*389A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Vitelliform macular dystrophy 2 +5 more	GConflicting classifications of pathogenicity
Select item 305137	NM_002032.3(FTH1):c.*319G>A	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Vitelliform macular dystrophy 2 +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 2685999	NM_002032.3(FTH1):c.512_513del (p.Leu170_Phe171insTer)	BEST1, FTH1	Deletion (nonsense +1 more)	not provided	GPathogenic
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 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 1298005	NM_002032.3(FTH1):c.261+23_261+29dup	BEST1, FTH1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
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 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

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Items: 23