"Ambry Genetics"[submitter] AND "TGFBI"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3325702	NM_000358.3(TGFBI):c.14T>C (p.Val5Ala)	TGFBI (V5A)	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	GUncertain significance
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 2534098	NM_000358.3(TGFBI):c.190A>C (p.Asn64His)	TGFBI (N64H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325704	NM_000358.3(TGFBI):c.206A>C (p.Tyr69Ser)	TGFBI (Y69S)	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 3325706	NM_000358.3(TGFBI):c.307C>T (p.Leu103Phe)	TGFBI (L103F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325703	NM_000358.3(TGFBI):c.322G>A (p.Glu108Lys)	TGFBI (E108K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2537939	NM_000358.3(TGFBI):c.562G>A (p.Gly188Ser)	TGFBI (G188S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2313818	NM_000358.3(TGFBI):c.881A>G (p.Asn294Ser)	TGFBI (N294S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3325708	NM_000358.3(TGFBI):c.976T>G (p.Ser326Ala)	TGFBI (S326A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3325705	NM_000358.3(TGFBI):c.1028T>A (p.Met343Lys)	TGFBI (M343K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3176652	NM_000358.3(TGFBI):c.1100T>C (p.Ile367Thr)	TGFBI (I367T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255531	NM_000358.3(TGFBI):c.1199T>A (p.Leu400His)	LOC126807519, TGFBI (L400H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325709	NM_000358.3(TGFBI):c.1221T>G (p.Ser407Arg)	LOC126807519, TGFBI (S407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2538545	NM_000358.3(TGFBI):c.1428C>G (p.Asn476Lys)	TGFBI (N476K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222885	NM_000358.3(TGFBI):c.1540C>G (p.Arg514Gly)	TGFBI (R514G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3325707	NM_000358.3(TGFBI):c.1655C>A (p.Pro552Gln)	TGFBI (P552Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 904477	NM_000358.3(TGFBI):c.1676T>G (p.Leu559Trp)	TGFBI (L559W)	Single nucleotide variant (missense variant)	Corneal dystrophy +1 more	GUncertain significance
Select item 3176656	NM_000358.3(TGFBI):c.1802T>G (p.Leu601Trp)	TGFBI (L601W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623737	NM_000358.3(TGFBI):c.2006G>A (p.Arg669Gln)	LOC129994706, TGFBI (R669Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049796	NM_000358.3(TGFBI):c.2035G>C (p.Glu679Gln)	TGFBI (E679Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2276527	NM_000358.3(TGFBI):c.2041A>T (p.Met681Leu)	TGFBI (M681L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325710	NM_000358.3(TGFBI):c.2042T>A (p.Met681Lys)	TGFBI (M681K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 40