ClinVar for Gene (Select 7040) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242655	NC_000019.9:g.(?_41847768)_(41854380_?)dup	TGFB1	Duplication	not provided	GUncertain significance
Select item 3242654	NC_000019.9:g.(?_41858575)_(41869424_?)del	B9D2, TGFB1	Deletion	not provided	GUncertain significance
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 3176638	NM_000660.7(TGFB1):c.1021G>T (p.Ala341Ser)	TGFB1 (A341S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3016655	NM_000660.7(TGFB1):c.739C>T (p.Leu247=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3010668	NM_000660.7(TGFB1):c.372C>T (p.Phe124=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3009646	NM_000660.7(TGFB1):c.756C>T (p.Gly252=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007487	NM_000660.7(TGFB1):c.763C>T (p.Arg255Trp)	TGFB1 (R255W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006669	NM_000660.7(TGFB1):c.367A>G (p.Lys123Glu)	TGFB1 (K123E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004950	NM_000660.7(TGFB1):c.634+20C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002832	NM_000660.7(TGFB1):c.355+3G>A	LOC130064510, TGFB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999855	NM_000660.7(TGFB1):c.984C>T (p.Tyr328=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996320	NM_000660.7(TGFB1):c.683G>A (p.Arg228Lys)	TGFB1 (R228K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987647	NM_000660.7(TGFB1):c.571G>A (p.Asp191Asn)	TGFB1 (D191N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986565	NM_000660.7(TGFB1):c.611T>G (p.Val204Gly)	TGFB1 (V204G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985240	NM_000660.7(TGFB1):c.374A>G (p.Lys125Arg)	TGFB1 (K125R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984849	NM_000660.7(TGFB1):c.867G>T (p.Thr289=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2977263	NM_000660.7(TGFB1):c.1021G>A (p.Ala341Thr)	TGFB1 (A341T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972638	NM_000660.7(TGFB1):c.502_513del (p.Val168_Tyr171del)	TGFB1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2972614	NM_000660.7(TGFB1):c.570C>G (p.Ser190Arg)	TGFB1 (S190R)	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 2964956	NM_000660.7(TGFB1):c.783G>C (p.Met261Ile)	TGFB1 (M261I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963600	NM_000660.7(TGFB1):c.676G>A (p.Asp226Asn)	TGFB1 (D226N)	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 2958514	NM_000660.7(TGFB1):c.29_34del (p.Pro10_Leu11del)	TGFB1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2958427	NM_000660.7(TGFB1):c.559C>T (p.Leu187=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898901	NM_000660.7(TGFB1):c.752A>G (p.His251Arg)	TGFB1 (H251R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893800	NM_000660.7(TGFB1):c.90A>G (p.Leu30=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2889604	NM_000660.7(TGFB1):c.687T>C (p.Asp229=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884647	NM_000660.7(TGFB1):c.686A>G (p.Asp229Gly)	TGFB1 (D229G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877799	NM_000660.7(TGFB1):c.570C>T (p.Ser190=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877583	NM_000660.7(TGFB1):c.56T>C (p.Leu19Pro)	TGFB1 (L19P)	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 2876493	NM_000660.7(TGFB1):c.635-14C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876363	NM_000660.7(TGFB1):c.754G>A (p.Gly252Ser)	TGFB1 (G252S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872214	NM_000660.7(TGFB1):c.1014+16C>A	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870634	NM_000660.7(TGFB1):c.1029C>T (p.Tyr343=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861399	NM_000660.7(TGFB1):c.575C>T (p.Ser192Leu)	TGFB1 (S192L)	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 2851791	NM_000660.7(TGFB1):c.499C>G (p.His167Asp)	TGFB1 (H167D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850312	NM_000660.7(TGFB1):c.1142A>G (p.Asn381Ser)	TGFB1 (N381S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846355	NM_000660.7(TGFB1):c.360C>A (p.Ile120=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841425	NM_000660.7(TGFB1):c.660C>A (p.Ser220Arg)	TGFB1 (S220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841343	NM_000660.7(TGFB1):c.948C>G (p.Gly316=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841342	NM_000660.7(TGFB1):c.949del (p.Tyr317fs)	TGFB1 (Y317fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2840780	NM_000660.7(TGFB1):c.485T>C (p.Leu162Ser)	TGFB1 (L162S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839223	NM_000660.7(TGFB1):c.1099G>A (p.Val367Met)	TGFB1 (V367M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838275	NM_000660.7(TGFB1):c.576G>T (p.Ser192=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832621	NM_000660.7(TGFB1):c.428C>T (p.Ala143Val)	TGFB1 (A143V)	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 2812615	NM_000660.7(TGFB1):c.803C>T (p.Ala268Val)	TGFB1 (A268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811036	NM_000660.7(TGFB1):c.1014+16C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806825	NM_000660.7(TGFB1):c.517-12A>G	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804599	NM_000660.7(TGFB1):c.392T>C (p.Ile131Thr)	TGFB1 (I131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802576	NM_000660.7(TGFB1):c.467G>A (p.Arg156His)	TGFB1 (R156H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801925	NM_000660.7(TGFB1):c.356-20C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800888	NM_000660.7(TGFB1):c.74G>A (p.Arg25Gln)	TGFB1 (R25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799864	NM_000660.7(TGFB1):c.798G>A (p.Glu266=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799574	NM_000660.7(TGFB1):c.1108G>C (p.Val370Leu)	TGFB1 (V370L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794823	NM_000660.7(TGFB1):c.723C>T (p.Thr241=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791700	NM_000660.7(TGFB1):c.860+15C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791184	NM_000660.7(TGFB1):c.456G>A (p.Arg152=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788190	NM_000660.7(TGFB1):c.764G>T (p.Arg255Leu)	TGFB1 (R255L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785609	NM_000660.7(TGFB1):c.12C>T (p.Ser4=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779829	NM_000660.7(TGFB1):c.12C>G (p.Ser4=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772800	NM_000660.7(TGFB1):c.30GCT[7] (p.Leu13_Pro14insLeuLeuLeuLeu)	TGFB1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2771957	NM_000660.7(TGFB1):c.659G>A (p.Ser220Asn)	TGFB1 (S220N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769957	NM_000660.7(TGFB1):c.883G>A (p.Val295Met)	TGFB1 (V295M)	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 2767837	NM_000660.7(TGFB1):c.661G>A (p.Ala221Thr)	TGFB1 (A221T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760940	NM_000660.7(TGFB1):c.983A>G (p.Tyr328Cys)	TGFB1 (Y328C)	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 2752062	NM_000660.7(TGFB1):c.441del (p.Val148fs)	TGFB1 (V148fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2750314	NM_000660.7(TGFB1):c.775C>A (p.Leu259Ile)	TGFB1 (L259I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748256	NM_000660.7(TGFB1):c.1129G>A (p.Glu377Lys)	TGFB1 (E377K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747739	NM_000660.7(TGFB1):c.29_30delinsTT (p.Pro10Leu)	TGFB1 (P10L)	Indel (missense variant)	not provided	GLikely benign
Select item 2745656	NM_000660.7(TGFB1):c.931A>G (p.Ile311Val)	TGFB1 (I311V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745238	NM_000660.7(TGFB1):c.886C>G (p.Arg296Gly)	TGFB1 (R296G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2744153	NM_000660.7(TGFB1):c.406A>T (p.Asn136Tyr)	TGFB1 (N136Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743373	NM_000660.7(TGFB1):c.28_29delinsTT (p.Pro10Leu)	TGFB1 (P10L)	Indel (missense variant)	not provided	GLikely benign
Select item 2738110	NM_000660.7(TGFB1):c.108C>A (p.Ile36=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729380	NM_000660.7(TGFB1):c.712+14C>G	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719525	NM_000660.7(TGFB1):c.538C>T (p.Arg180Ter)	TGFB1 (R180*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2708233	NM_000660.7(TGFB1):c.860+9T>G	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706767	NM_000660.7(TGFB1):c.1079C>T (p.Ala360Val)	TGFB1 (A360V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706096	NM_000660.7(TGFB1):c.410C>A (p.Thr137Lys)	TGFB1 (T137K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703312	NM_000660.7(TGFB1):c.713-15C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698632	NM_000660.7(TGFB1):c.613C>G (p.Arg205Gly)	TGFB1 (R205G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696192	NM_000660.7(TGFB1):c.1160G>C (p.Cys387Ser)	TGFB1 (C387S)	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 2693026	NM_000660.7(TGFB1):c.712+6G>C	TGFB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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