"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FTH1"[g - ClinVar

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Items: 33

	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)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99766	NM_004183.4(BEST1):c.889C>T (p.Pro297Ser)	FTH1, BEST1 (P297S +2 more)	Single nucleotide variant (missense variant +4 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99676	NM_004183.4(BEST1):c.1023C>T (p.Pro341=)	BEST1, FTH1 (P409L)	Single nucleotide variant (synonymous variant +2 more)	not specified +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)	Retinitis pigmentosa +6 more	GConflicting classifications of pathogenicity
Select item 305126	NM_004183.4(BEST1):c.1143C>T (p.Asp381=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +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)	Retinal dystrophy +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)	Iron Overload +6 more	GBenign/Likely benign
Select item 305130	NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)	FTH1, BEST1 (S507P +4 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +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)	not specified +7 more	GBenign
Select item 99682	NM_004183.4(BEST1):c.1608T>C (p.Thr536=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +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)	Vitelliform macular dystrophy 2 +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)	Autosomal dominant vitreoretinochoroidopathy +5 more	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 2057102	NM_002032.3(FTH1):c.486C>T (p.Pro162=)	BEST1, FTH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 305143	NM_002032.3(FTH1):c.387+12A>G	BEST1, FTH1	Single nucleotide variant (3 prime UTR variant +1 more)	Hemochromatosis type 5 +5 more	GBenign/Likely benign
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 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 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)	Hemochromatosis type 5 +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 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 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 1003753	NC_000011.9:g.(?_61731556)_(61732604_?)dup	BEST1, FTH1	Duplication	not provided	GUncertain significance
Select item 831570	NC_000011.10:g.(?_61964104)_(61967617_?)dup	BEST1, FTH1	Duplication	not provided	GUncertain significance

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Items: 33