ClinVar for MedGen (Select 1648434) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234856	NM_000660.7(TGFB1):c.571_577del (p.Asp191fs)	TGFB1 (D191fs)	Deletion (frameshift variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 1417381	NM_000660.7(TGFB1):c.32T>A (p.Leu11Gln)	TGFB1 (L11Q)	Single nucleotide variant (missense variant)	Cystic fibrosis +4 more	GUncertain significance
Select item 1325512	NM_000660.7(TGFB1):c.399G>A (p.Met133Ile)	TGFB1 (M133I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029928	NM_000660.7(TGFB1):c.715T>A (p.Phe239Ile)	TGFB1 (F239I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 978501	NM_000660.7(TGFB1):c.355+5G>A	LOC130064510, TGFB1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 488346	NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	TGFB1 (C387R)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 488345	NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys)	TGFB1, LOC130064510 (R110C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 487577	NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys)	LOC130064510, TGFB1 (R45C)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 256753	NM_000660.7(TGFB1):c.861-20C>T	TGFB1	Single nucleotide variant (intron variant)	Diaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 12534	NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)	TGFB1 (P10L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign