ClinVar for Gene (Select 7037) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325662	NM_001128148.3(TFRC):c.2146T>A (p.Leu716Met)	TFRC (L635M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246988	NC_000003.11:g.(?_195778813)_(195780449_?)dup	TFRC	Duplication	not provided	GUncertain significance
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3176575	NM_001128148.3(TFRC):c.818G>C (p.Ser273Thr)	TFRC (S273T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3176574	NM_001128148.3(TFRC):c.1615A>G (p.Asn539Asp)	TFRC (N458D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3062683	GRCh37/hg19 3q29(chr3:195792450-196145838)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3058693	NM_001128148.3(TFRC):c.105T>C (p.His35=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	TFRC-related disorder	GLikely benign
Select item 3031431	NM_001128148.3(TFRC):c.596_599del (p.Asn198_Ser199insTer)	TFRC	Deletion (nonsense +1 more)	TFRC-related disorder	GUncertain significance
Select item 3026018	NM_001128148.3(TFRC):c.543C>T (p.Val181=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023030	NM_001128148.3(TFRC):c.434+14G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022478	NM_001128148.3(TFRC):c.211A>G (p.Ile71Val)	TFRC (I71V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021670	NM_001128148.3(TFRC):c.740A>G (p.Tyr247Cys)	TFRC (Y166C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020785	NM_001128148.3(TFRC):c.1198+16C>A	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020077	NM_001128148.3(TFRC):c.1900-8T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017248	NM_001128148.3(TFRC):c.408C>T (p.Asp136=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012674	NM_001128148.3(TFRC):c.814G>A (p.Glu272Lys)	TFRC (E191K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011290	NM_001128148.3(TFRC):c.219G>A (p.Val73=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010982	NM_001128148.3(TFRC):c.450T>G (p.Asn150Lys)	TFRC (N69K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010235	NM_001128148.3(TFRC):c.176C>G (p.Pro59Arg)	TFRC (P59R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009747	NM_001128148.3(TFRC):c.301C>G (p.Leu101Val)	TFRC (L20V +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3009576	NM_001128148.3(TFRC):c.1198+13_1198+14insCCG	TFRC	Insertion (intron variant)	not provided	GLikely benign
Select item 3009460	NM_001128148.3(TFRC):c.1198+14C>G	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008227	NM_001128148.3(TFRC):c.1198+18_1198+19insCG	TFRC	Insertion (intron variant)	not provided	GLikely benign
Select item 3007271	NM_001128148.3(TFRC):c.1678-7C>G	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003095	NM_001128148.3(TFRC):c.238+14T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000048	NM_001128148.3(TFRC):c.2215A>G (p.Thr739Ala)	TFRC (T658A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999809	NM_001128148.3(TFRC):c.64C>T (p.Arg22Trp)	TFRC (R22W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999496	NM_001128148.3(TFRC):c.1013C>G (p.Ser338Cys)	TFRC (S257C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998973	NM_001128148.3(TFRC):c.454T>C (p.Tyr152His)	TFRC (Y152H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997999	NM_001128148.3(TFRC):c.214G>T (p.Ala72Ser)	TFRC (A72S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2995055	NM_001128148.3(TFRC):c.388A>G (p.Lys130Glu)	TFRC (K49E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994553	NM_001128148.3(TFRC):c.435-14A>G	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992962	NM_001128148.3(TFRC):c.679A>G (p.Thr227Ala)	TFRC (T146A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992375	NM_001128148.3(TFRC):c.1198+15C>A	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992135	NM_001128148.3(TFRC):c.2247C>G (p.Leu749=)	TFRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987378	NM_001128148.3(TFRC):c.1537-14T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987332	NM_001128148.3(TFRC):c.1024G>A (p.Ala342Thr)	TFRC (A261T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984821	NM_001128148.3(TFRC):c.2209C>G (p.Leu737Val)	TFRC (L455V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984699	NM_001128148.3(TFRC):c.395C>T (p.Ser132Leu)	TFRC (S51L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2984493	NM_001128148.3(TFRC):c.1041-19G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983093	NM_001128148.3(TFRC):c.1198+14C>T	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982973	NM_001128148.3(TFRC):c.1198+6G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2980836	NM_001128148.3(TFRC):c.607G>A (p.Val203Ile)	TFRC (V122I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980785	NM_001128148.3(TFRC):c.1460C>T (p.Ala487Val)	TFRC (A205V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978444	NM_001128148.3(TFRC):c.741C>T (p.Tyr247=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2976579	NM_001128148.3(TFRC):c.1379C>T (p.Ser460Leu)	TFRC (S460L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975599	NM_001128148.3(TFRC):c.1776G>A (p.Glu592=)	TFRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974345	NM_001128148.3(TFRC):c.36+20A>G	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973046	NM_001128148.3(TFRC):c.1469-9T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971138	NM_001128148.3(TFRC):c.584+14T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971036	NM_001128148.3(TFRC):c.973C>T (p.Arg325Trp)	TFRC (R43W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970768	NM_001128148.3(TFRC):c.463C>T (p.Arg155Cys)	TFRC (R155C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970182	NM_001128148.3(TFRC):c.238+19A>G	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968853	NM_001128148.3(TFRC):c.94G>A (p.Asp32Asn)	TFRC (D32N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2966847	NM_001128148.3(TFRC):c.1199-12T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964636	NM_001128148.3(TFRC):c.904C>A (p.His302Asn)	TFRC (H20N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963810	NM_001128148.3(TFRC):c.2131G>A (p.Ala711Thr)	TFRC (A429T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960490	NM_001128148.3(TFRC):c.1198+12_1198+13insCG	TFRC	Insertion (intron variant)	not provided	GLikely benign
Select item 2959569	NM_001128148.3(TFRC):c.435-11T>A	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955999	NM_001128148.3(TFRC):c.435-6C>T	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955587	NM_001128148.3(TFRC):c.999T>C (p.Pro333=)	TFRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916725	NM_001128148.3(TFRC):c.423C>T (p.Thr141=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2910180	NM_001128148.3(TFRC):c.547C>T (p.Arg183Cys)	TFRC (R183C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909807	NM_001128148.3(TFRC):c.1028A>G (p.Glu343Gly)	TFRC (E262G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907640	NM_001128148.3(TFRC):c.2111C>G (p.Ser704Cys)	TFRC (S422C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904454	NM_001128148.3(TFRC):c.2156G>A (p.Arg719His)	TFRC (R719H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902167	NM_001128148.3(TFRC):c.1008A>T (p.Thr336=)	TFRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902038	NM_001128148.3(TFRC):c.2068G>A (p.Val690Ile)	TFRC (V408I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899386	NM_001128148.3(TFRC):c.306A>G (p.Ala102=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897193	NM_001128148.3(TFRC):c.209C>G (p.Thr70Ser)	TFRC (T70S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896248	NM_001128148.3(TFRC):c.585-7T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2894954	NM_001128148.3(TFRC):c.1296G>A (p.Met432Ile)	TFRC (M432I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894143	NM_001128148.3(TFRC):c.921C>T (p.Asp307=)	TFRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886979	NM_001128148.3(TFRC):c.1537-8T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884284	NM_001128148.3(TFRC):c.585C>T (p.Ser195=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2883474	NM_001128148.3(TFRC):c.571C>G (p.Gln191Glu)	TFRC (Q191E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880751	NM_001128148.3(TFRC):c.503A>G (p.Tyr168Cys)	TFRC (Y168C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874476	NM_001128148.3(TFRC):c.1199-7T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870217	NM_001128148.3(TFRC):c.323T>C (p.Val108Ala)	TFRC (V27A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869712	NM_001128148.3(TFRC):c.251G>C (p.Gly84Ala)	TFRC (G84A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866612	NM_001128148.3(TFRC):c.264T>C (p.Tyr88=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865548	NM_001128148.3(TFRC):c.557A>G (p.His186Arg)	TFRC (H105R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858929	NM_001128148.3(TFRC):c.1537-10T>A	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858796	NM_001128148.3(TFRC):c.714T>C (p.Gly238=)	TFRC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854706	NM_001128148.3(TFRC):c.1344T>A (p.Ile448=)	TFRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852499	NM_001128148.3(TFRC):c.688-9T>C	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849989	NM_001128148.3(TFRC):c.1912A>C (p.Ser638Arg)	TFRC (S638R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847197	NM_001128148.3(TFRC):c.1329G>A (p.Gln443=)	TFRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842551	NM_001128148.3(TFRC):c.1202A>G (p.His401Arg)	TFRC (H320R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842333	NM_001128148.3(TFRC):c.1041-18C>G	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839591	NM_001128148.3(TFRC):c.230T>C (p.Phe77Ser)	TFRC (F77S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2832199	NM_001128148.3(TFRC):c.792T>G (p.Phe264Leu)	TFRC (F264L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831955	NM_001128148.3(TFRC):c.900+2T>G	TFRC	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2827889	NM_001128148.3(TFRC):c.2101T>G (p.Phe701Val)	TFRC (F701V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821337	NM_001128148.3(TFRC):c.818G>A (p.Ser273Asn)	TFRC (S192N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2818915	NM_001128148.3(TFRC):c.584+16G>A	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818572	NM_001128148.3(TFRC):c.334C>T (p.Pro112Ser)	TFRC (P112S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817776	NM_001128148.3(TFRC):c.239-13T>G	TFRC	Single nucleotide variant (intron variant)	not provided	GLikely benign

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