Related gene-specific medical variations for Gene (Select 7045) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362743	NM_000358.3(TGFBI):c.1705C>G (p.Leu569Val)	TGFBI (L569V)	Single nucleotide variant (missense variant)	Avellino corneal dystrophy	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 2895744	NM_000358.3(TGFBI):c.1200C>T (p.Leu400=)	LOC126807519, TGFBI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 905211	NM_000358.3(TGFBI):c.1194C>T (p.Ala398=)	TGFBI, LOC126807519	Single nucleotide variant (synonymous variant)	Corneal dystrophy	GUncertain significance
Select item 905210	NM_000358.3(TGFBI):c.1193C>A (p.Ala398Asp)	LOC126807519, TGFBI (A398D)	Single nucleotide variant (missense variant)	Corneal dystrophy	GUncertain significance
Select item 905209	NM_000358.3(TGFBI):c.1127-11C>T	LOC126807519, TGFBI	Single nucleotide variant (intron variant)	Corneal dystrophy	GUncertain significance
Select item 799398	NM_000358.3(TGFBI):c.1167C>T (p.Ser389=)	LOC126807519, TGFBI	Single nucleotide variant (synonymous variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 632451	NM_000358.3(TGFBI):c.2005C>T (p.Arg669Ter)	LOC129994706, TGFBI (R669*)	Single nucleotide variant (nonsense)	Corneal dystrophy	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 242752	NM_000358.3(TGFBI):c.1652C>A (p.Pro551Gln)	TGFBI (P551Q)	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