LOC399900[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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