TGFBI[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 350864	NM_000358.2(TGFBI):c.-124C>A	TGFBI	Single nucleotide variant	Corneal Dystrophy, Dominant	GUncertain significance
Select item 350865	NM_000358.2(TGFBI):c.-106C>T	TGFBI	Single nucleotide variant	Corneal Dystrophy, Dominant	GUncertain significance
Select item 2318303	NM_000358.3(TGFBI):c.5C>G (p.Ala2Gly)	TGFBI (A2G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352977	NM_000358.3(TGFBI):c.50G>C (p.Gly17Ala)	TGFBI (G17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2517053	NM_000358.3(TGFBI):c.67G>T (p.Ala23Ser)	TGFBI (A23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347571	NM_000358.3(TGFBI):c.77C>T (p.Ala26Val)	TGFBI (A26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176653	NM_000358.3(TGFBI):c.114G>C (p.Arg38Ser)	TGFBI (R38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350866	NM_000358.3(TGFBI):c.134+14C>A	TGFBI	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350867	NM_000358.3(TGFBI):c.141C>T (p.Asn47=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 2534098	NM_000358.3(TGFBI):c.190A>C (p.Asn64His)	TGFBI (N64H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176658	NM_000358.3(TGFBI):c.224G>A (p.Gly75Asp)	TGFBI (G75D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645832	NM_000358.3(TGFBI):c.233+3G>A	TGFBI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 350868	NM_000358.3(TGFBI):c.273C>T (p.Val91=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 350869	NM_000358.3(TGFBI):c.283A>G (p.Lys95Glu)	TGFBI (K95E)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 350870	NM_000358.3(TGFBI):c.321C>T (p.Tyr107=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 906735	NM_000358.3(TGFBI):c.334G>A (p.Val112Ile)	TGFBI (V112I)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 1404990	NM_000358.3(TGFBI):c.337G>A (p.Val113Ile)	TGFBI (V113I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350871	NM_000358.3(TGFBI):c.348C>A (p.Thr116=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 1686350	NM_000358.3(TGFBI):c.367G>C (p.Asp123His)	TGFBI (D123H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 7873	NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser)	TGFBI (R124S)	Single nucleotide variant (missense variant)	Epithelial-stromal TGFBI dystrophy	GPathogenic
Select item 7868	NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys)	TGFBI (R124C)	Single nucleotide variant (missense variant)	Epithelial-stromal TGFBI dystrophy +2 more	GPathogenic
Select item 7872	NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu)	TGFBI (R124L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 7869	NM_000358.3(TGFBI):c.371G>A (p.Arg124His)	TGFBI (R124H)	Single nucleotide variant (missense variant)	Lattice corneal dystrophy Type I +2 more	GPathogenic
Select item 906736	NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser)	TGFBI (R129S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 907740	NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp)	TGFBI (E131D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 773700	NM_000358.3(TGFBI):c.423C>T (p.Phe141=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471836	NM_000358.3(TGFBI):c.446C>T (p.Ala149Val)	TGFBI (A149V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350872	NM_000358.3(TGFBI):c.459+14C>T	TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy	GUncertain significance
Select item 2413981	NM_000358.3(TGFBI):c.460-17C>T	TGFBI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255938	NM_000358.3(TGFBI):c.460-16C>T	TGFBI	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 350873	NM_000358.3(TGFBI):c.535C>T (p.Arg179Ter)	TGFBI (R179*)	Single nucleotide variant (nonsense)	Corneal dystrophy	GUncertain significance
Select item 2537939	NM_000358.3(TGFBI):c.562G>A (p.Gly188Ser)	TGFBI (G188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 255939	NM_000358.3(TGFBI):c.651G>C (p.Leu217=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +2 more	GBenign
Select item 350874	NM_000358.3(TGFBI):c.675C>A (p.Thr225=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 350875	NM_000358.3(TGFBI):c.678C>T (p.Asn226=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3034478	NM_000358.3(TGFBI):c.690C>T (p.His230=)	TGFBI	Single nucleotide variant (synonymous variant)	TGFBI-related disorder	GLikely benign
Select item 3176659	NM_000358.3(TGFBI):c.691C>T (p.Leu231Phe)	TGFBI (L231F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350876	NM_000358.3(TGFBI):c.721A>G (p.Asn241Asp)	TGFBI (N241D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 907741	NM_000358.3(TGFBI):c.739A>C (p.Ile247Leu)	TGFBI (I247L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 752018	NM_000358.3(TGFBI):c.801G>C (p.Thr267=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741453	NM_000358.3(TGFBI):c.801G>A (p.Thr267=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 750482	NM_000358.3(TGFBI):c.805C>T (p.Leu269Phe)	TGFBI (L269F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 350877	NM_000358.3(TGFBI):c.816C>T (p.Asn272=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 632449	NM_000358.3(TGFBI):c.820C>T (p.Gln274Ter)	TGFBI (Q274*)	Single nucleotide variant (nonsense)	Corneal dystrophy	GUncertain significance
Select item 746359	NM_000358.3(TGFBI):c.852C>A (p.Ala284=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2313818	NM_000358.3(TGFBI):c.881A>G (p.Asn294Ser)	TGFBI (N294S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 904412	NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn)	TGFBI (D299N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2408933	NM_000358.3(TGFBI):c.952G>A (p.Ala318Thr)	TGFBI (A318T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3176660	NM_000358.3(TGFBI):c.964G>A (p.Val322Ile)	TGFBI (V322I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350878	NM_000358.3(TGFBI):c.968C>T (p.Ala323Val)	TGFBI (A323V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350879	NM_000358.3(TGFBI):c.969G>A (p.Ala323=)	TGFBI	Single nucleotide variant (synonymous variant)	TGFBI-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 255940	NM_000358.3(TGFBI):c.981A>G (p.Val327=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +2 more	GBenign
Select item 904413	NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala)	TGFBI (T334A)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 2458102	NM_000358.3(TGFBI):c.1025A>G (p.Asp342Gly)	TGFBI (D342G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350880	NM_000358.3(TGFBI):c.1027A>G (p.Met343Val)	TGFBI (M343V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2394634	NM_000358.3(TGFBI):c.1049C>T (p.Ala350Val)	TGFBI (A350V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350881	NM_000358.3(TGFBI):c.1061A>G (p.Asn354Ser)	TGFBI (N354S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 2898876	NM_000358.3(TGFBI):c.1078A>T (p.Thr360Ser)	TGFBI (T360S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350882	NM_000358.3(TGFBI):c.1083C>T (p.Asn361=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3176652	NM_000358.3(TGFBI):c.1100T>C (p.Ile367Thr)	TGFBI (I367T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350884	NM_000358.3(TGFBI):c.1265-11C>T	TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy +1 more	GBenign/Likely benign
Select item 350883	NM_000358.3(TGFBI):c.1265-11C>A	TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy	GUncertain significance
Select item 350885	NM_000358.3(TGFBI):c.1284T>A (p.Asp428Glu)	TGFBI (D428E)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 906802	NM_000358.3(TGFBI):c.1291A>G (p.Thr431Ala)	TGFBI (T431A)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 2570338	NM_000358.3(TGFBI):c.1306C>T (p.Arg436Trp)	TGFBI (R436W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350886	NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr)	TGFBI (H438Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 350887	NM_000358.3(TGFBI):c.1377C>T (p.Gly459=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GLikely benign
Select item 2540619	NM_000358.3(TGFBI):c.1378G>A (p.Gly460Ser)	TGFBI (G460S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378724	NM_000358.3(TGFBI):c.1385A>C (p.Lys462Thr)	TGFBI (K462T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 906803	NM_000358.3(TGFBI):c.1405C>T (p.Arg469Cys)	TGFBI (R469C)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 1175370	NM_000358.3(TGFBI):c.1406G>A (p.Arg469His)	TGFBI (R469H)	Single nucleotide variant (missense variant)	Granular corneal dystrophy	GLikely pathogenic
Select item 350888	NM_000358.3(TGFBI):c.1411-3C>T	TGFBI	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 255936	NM_000358.3(TGFBI):c.1416C>T (p.Leu472=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +2 more	GBenign
Select item 2538545	NM_000358.3(TGFBI):c.1428C>G (p.Asn476Lys)	TGFBI (N476K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 742763	NM_000358.3(TGFBI):c.1439C>T (p.Ala480Val)	TGFBI (A480V)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 782816	NM_000358.3(TGFBI):c.1446C>T (p.His482=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 350889	NM_000358.3(TGFBI):c.1454G>A (p.Arg485Lys)	TGFBI (R485K)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 2184470	NM_000358.3(TGFBI):c.1464C>T (p.Tyr488=)	TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 632450	NM_000358.3(TGFBI):c.1471del (p.Leu491fs)	TGFBI (L491fs)	Deletion (frameshift variant)	Corneal dystrophy	GUncertain significance
Select item 2075202	NM_000358.3(TGFBI):c.1486C>T (p.Arg496Trp)	TGFBI (R496W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787044	NM_000358.3(TGFBI):c.1486C>G (p.Arg496Gly)	TGFBI (R496G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 907796	NM_000358.3(TGFBI):c.1501C>T (p.Pro501Ser)	TGFBI (P501S)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 7871	NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)	TGFBI (P501T)	Single nucleotide variant (missense variant)	Corneal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 713967	NM_000358.3(TGFBI):c.1504A>G (p.Met502Val)	TGFBI (M502V)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 350890	NM_000358.3(TGFBI):c.1513G>A (p.Val505Ile)	TGFBI (V505I)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 2572628	NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly)	TGFBI	Insertion (inframe_indel)	Reis-Bucklers' corneal dystrophy	GLikely pathogenic
Select item 7877	NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg)	TGFBI (L509R)	Single nucleotide variant (missense variant)	Epithelial basement membrane dystrophy	GPathogenic
Select item 2222885	NM_000358.3(TGFBI):c.1540C>G (p.Arg514Gly)	TGFBI (R514G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350891	NM_000358.3(TGFBI):c.1540C>T (p.Arg514Cys)	TGFBI (R514C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3176655	NM_000358.3(TGFBI):c.1583C>T (p.Thr528Met)	TGFBI (T528M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 350892	NM_000358.3(TGFBI):c.1584G>A (p.Thr528=)	TGFBI	Single nucleotide variant (synonymous variant)	TGFBI-related disorder +1 more	GBenign/Likely benign
Select item 907797	NM_000358.3(TGFBI):c.1611C>T (p.Tyr537=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 1300214	NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro)	TGFBI (T538P)	Single nucleotide variant (missense variant)	Epithelial-stromal TGFBI dystrophy	GLikely pathogenic
Select item 7870	NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del)	TGFBI (F540del)	Deletion (inframe_deletion)	Reis-Bucklers' corneal dystrophy	GPathogenic
Select item 7875	NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser)	TGFBI (F540S)	Single nucleotide variant (missense variant)	Corneal dystrophy, lattice type 3A	GPathogenic
Select item 255937	NM_000358.3(TGFBI):c.1620T>C (p.Phe540=)	TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +2 more	GBenign
Select item 225487	NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser)	TGFBI (N544S)	Single nucleotide variant (missense variant)	Corneal dystrophy, lattice type 3A +2 more	GUncertain significance
Select item 242802	NM_000358.3(TGFBI):c.1637C>A (p.Ala546Asp)	TGFBI (A546D)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2498979	NM_000358.3(TGFBI):c.1640T>G (p.Phe547Cys)	TGFBI (F547C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 904475	NM_000358.3(TGFBI):c.1643G>A (p.Arg548Gln)	TGFBI (R548Q)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance

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