Related gene-specific medical variations for Gene (Select 7040) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3020729	NM_000660.7(TGFB1):c.292G>C (p.Glu98Gln)	LOC130064510, TGFB1 (E98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019448	NM_000660.7(TGFB1):c.300G>T (p.Glu100Asp)	LOC130064510, TGFB1 (E100D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019047	NM_000660.7(TGFB1):c.113T>C (p.Met38Thr)	LOC130064510, TGFB1 (M38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011318	NM_000660.7(TGFB1):c.122T>G (p.Val41Gly)	LOC130064510, TGFB1 (V41G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002832	NM_000660.7(TGFB1):c.355+3G>A	LOC130064510, TGFB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2983733	NM_000660.7(TGFB1):c.148C>T (p.Arg50Cys)	LOC130064510, TGFB1 (R50C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981955	NM_000660.7(TGFB1):c.184C>A (p.Pro62Thr)	LOC130064510, TGFB1 (P62T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969295	NM_000660.7(TGFB1):c.292G>A (p.Glu98Lys)	LOC130064510, TGFB1 (E98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963279	NM_000660.7(TGFB1):c.202_204del (p.Val68del)	LOC130064510, TGFB1 (V68del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2893799	NM_000660.7(TGFB1):c.159C>T (p.Ile53=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891454	NM_000660.7(TGFB1):c.253C>T (p.Arg85Cys)	LOC130064510, TGFB1 (R85C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877505	NM_000660.7(TGFB1):c.295C>A (p.Pro99Thr)	LOC130064510, TGFB1 (P99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860476	NM_000660.7(TGFB1):c.302C>T (p.Ala101Val)	LOC130064510, TGFB1 (A101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825006	NM_000660.7(TGFB1):c.242A>G (p.Tyr81Cys)	LOC130064510, TGFB1 (Y81C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820802	NM_000660.7(TGFB1):c.258C>A (p.Asp86Glu)	LOC130064510, TGFB1 (D86E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768144	NM_000660.7(TGFB1):c.158T>C (p.Ile53Thr)	LOC130064510, TGFB1 (I53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753889	NM_000660.7(TGFB1):c.151G>C (p.Gly51Arg)	LOC130064510, TGFB1 (G51R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694901	NM_000660.7(TGFB1):c.355+7T>A	LOC130064510, TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2404786	NM_000660.7(TGFB1):c.248G>C (p.Ser83Thr)	LOC130064510, TGFB1 (S83T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2135032	NM_000660.7(TGFB1):c.272A>G (p.Glu91Gly)	LOC130064510, TGFB1 (E91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108531	NM_000660.7(TGFB1):c.116A>C (p.Glu39Ala)	LOC130064510, TGFB1 (E39A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094809	NM_000660.7(TGFB1):c.354C>T (p.Asn118=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2079049	NM_000660.7(TGFB1):c.212G>A (p.Gly71Asp)	LOC130064510, TGFB1 (G71D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077523	NM_000660.7(TGFB1):c.295C>T (p.Pro99Ser)	LOC130064510, TGFB1 (P99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012751	NM_000660.7(TGFB1):c.193C>T (p.Gln65Ter)	LOC130064510, TGFB1 (Q65*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1997527	NM_000660.7(TGFB1):c.346A>G (p.Thr116Ala)	TGFB1, LOC130064510 (T116A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997215	NM_000660.7(TGFB1):c.318G>A (p.Lys106=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996313	NM_000660.7(TGFB1):c.179C>G (p.Ala60Gly)	LOC130064510, TGFB1 (A60G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990387	NM_000660.7(TGFB1):c.343G>A (p.Glu115Lys)	LOC130064510, TGFB1 (E115K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981032	NM_000660.7(TGFB1):c.338T>C (p.Met113Thr)	LOC130064510, TGFB1 (M113T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977896	NM_000660.7(TGFB1):c.256G>C (p.Asp86His)	LOC130064510, TGFB1 (D86H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977671	NM_000660.7(TGFB1):c.191G>C (p.Ser64Thr)	LOC130064510, TGFB1 (S64T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956397	NM_000660.7(TGFB1):c.146T>G (p.Ile49Ser)	LOC130064510, TGFB1 (I49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923743	NM_000660.7(TGFB1):c.355+16C>T	LOC130064510, TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921762	NM_000660.7(TGFB1):c.284C>A (p.Pro95Gln)	LOC130064510, TGFB1 (P95Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897309	NM_000660.7(TGFB1):c.271G>A (p.Glu91Lys)	LOC130064510, TGFB1 (E91K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896562	NM_000660.7(TGFB1):c.129G>A (p.Arg43=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720441	NM_000660.7(TGFB1):c.304G>T (p.Asp102Tyr)	LOC130064510, TGFB1 (D102Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617605	NM_000660.7(TGFB1):c.291C>T (p.Pro97=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1608213	NM_000660.7(TGFB1):c.240G>A (p.Leu80=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1572373	NM_000660.7(TGFB1):c.231G>C (p.Val77=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550470	NM_000660.7(TGFB1):c.169C>T (p.Leu57=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542492	NM_000660.7(TGFB1):c.228C>T (p.Ala76=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1535274	NM_000660.7(TGFB1):c.355+19G>A	LOC130064510, TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1511180	NM_000660.7(TGFB1):c.206C>T (p.Pro69Leu)	LOC130064510, TGFB1 (P69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415059	NM_000660.7(TGFB1):c.169C>A (p.Leu57Met)	LOC130064510, TGFB1 (L57M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369702	NM_000660.7(TGFB1):c.274_275dup (p.Ser92fs)	LOC130064510, TGFB1 (S92fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1364850	NM_000660.7(TGFB1):c.215C>T (p.Pro72Leu)	LOC130064510, TGFB1 (P72L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363078	NM_000660.7(TGFB1):c.183C>A (p.Ser61Arg)	LOC130064510, TGFB1 (S61R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180304	NM_000660.7(TGFB1):c.-762dup	LOC130064513, TGFB1	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 1013166	NM_000660.7(TGFB1):c.256G>T (p.Asp86Tyr)	LOC130064510, TGFB1 (D86Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978503	NM_000660.7(TGFB1):c.348C>T (p.Thr116=)	LOC130064510, TGFB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 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 38900	NM_000660.7(TGFB1):c.664C>G (p.His222Asp)	TGFB1 (H222D)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	Gnot provided
Select item 12532	NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)	LOC130064510, TGFB1 (Y81H)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GPathogenic

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Links from Gene

Items: 57