ClinVar for Gene (Select 6926) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075717	NM_005996.4(TBX3):c.309dup (p.Lys104fs)	TBX3, TBX3-AS1 (K104fs)	Duplication (frameshift variant)	Ulnar-mammary syndrome	GLikely pathogenic
Select item 3066167	NM_005996.4(TBX3):c.412G>A (p.Val138Met)	TBX3 (V138M)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 3065230	NM_005996.4(TBX3):c.945del (p.Ser316fs)	TBX3 (S316fs +1 more)	Deletion (frameshift variant)	Ulnar-mammary syndrome	GLikely pathogenic
Select item 3064137	NM_005996.4(TBX3):c.1921_1922insG (p.Pro641fs)	TBX3 (P641fs +1 more)	Insertion (frameshift variant)	Ulnar-mammary syndrome	GLikely pathogenic
Select item 3061897	NM_005996.4(TBX3):c.400C>G (p.Pro134Ala)	TBX3 (P134A)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GLikely pathogenic
Select item 3060700	NM_005996.4(TBX3):c.-895TC[19]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3059281	NM_005996.4(TBX3):c.1449C>T (p.Phe483=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3058830	NM_005996.4(TBX3):c.1714C>T (p.Leu572=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3058460	NM_005996.4(TBX3):c.1237C>T (p.Pro413Ser)	TBX3 (P413S +1 more)	Single nucleotide variant (missense variant)	TBX3-related condition	GUncertain significance
Select item 3057044	NM_005996.4(TBX3):c.363C>T (p.Thr121=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3055823	NM_005996.4(TBX3):c.1991_2005del (p.Val664_Ser668del)	TBX3	Deletion (inframe deletion)	TBX3-related condition	GUncertain significance
Select item 3055425	NM_005996.4(TBX3):c.1958A>C (p.Lys653Thr)	TBX3 (K653T +1 more)	Single nucleotide variant (missense variant)	TBX3-related condition	GUncertain significance
Select item 3052954	NM_005996.4(TBX3):c.-1G>C	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3051910	NM_005996.4(TBX3):c.1909A>G (p.Thr637Ala)	TBX3 (T637A +1 more)	Single nucleotide variant (missense variant)	TBX3-related condition	GUncertain significance
Select item 3047437	NM_005996.4(TBX3):c.1191C>T (p.Phe397=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3046481	NM_005996.4(TBX3):c.534C>T (p.Pro178=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3044551	NM_005996.4(TBX3):c.1481A>G (p.Asn494Ser)	TBX3 (N494S +1 more)	Single nucleotide variant (missense variant)	TBX3-related condition	GUncertain significance
Select item 3044097	NM_005996.4(TBX3):c.858T>C (p.Thr286=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3043048	NM_005996.4(TBX3):c.-895TC[10]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3043032	NM_005996.4(TBX3):c.828C>T (p.Asn276=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3040800	NM_005996.4(TBX3):c.1450G>A (p.Ala484Thr)	TBX3 (A484T +1 more)	Single nucleotide variant (missense variant)	TBX3-related condition	GUncertain significance
Select item 3040423	NM_005996.4(TBX3):c.658-313C>T	TBX3	Single nucleotide variant (synonymous variant +1 more)	TBX3-related condition	GLikely benign
Select item 3040340	NM_005996.4(TBX3):c.-872_-871insTCCC	TBX3, TBX3-AS1	Insertion (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3038367	NM_005996.4(TBX3):c.-871C>T	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3038155	NM_005996.4(TBX3):c.96G>C (p.Ala32=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3037924	NM_005996.4(TBX3):c.*1A>C	TBX3	Single nucleotide variant (3 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3037713	NM_005996.4(TBX3):c.-879T>C	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3035884	NM_005996.4(TBX3):c.1071C>T (p.Ala357=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3035563	NM_005996.4(TBX3):c.-895TC[20]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3033785	NM_005996.4(TBX3):c.1040-4G>A	TBX3	Single nucleotide variant (intron variant)	TBX3-related condition	GLikely benign
Select item 3032084	NM_005996.4(TBX3):c.1797C>T (p.Ala599=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3031433	NM_005996.4(TBX3):c.1886_1891dup (p.Pro630_Asp631insValPro)	TBX3	Duplication (inframe insertion)	TBX3-related condition	GUncertain significance
Select item 3031122	NM_005996.4(TBX3):c.-895TC[8]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related condition	GLikely benign
Select item 3030815	NM_005996.4(TBX3):c.2037C>G (p.Leu679=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3030439	NM_005996.4(TBX3):c.1239C>T (p.Pro413=)	TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition	GLikely benign
Select item 3022506	NM_005996.4(TBX3):c.1258G>T (p.Ala420Ser)	TBX3 (A440S +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 3018574	NM_005996.4(TBX3):c.1388C>T (p.Thr463Met)	TBX3 (T463M +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 3008261	NM_005996.4(TBX3):c.1173G>A (p.Ala391=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2994153	NM_005996.4(TBX3):c.894C>T (p.Thr298=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2993335	NM_005996.4(TBX3):c.1071C>G (p.Ala357=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2990961	NM_005996.4(TBX3):c.1663G>A (p.Ala555Thr)	TBX3 (A555T +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2990620	NM_005996.4(TBX3):c.1621A>G (p.Met541Val)	TBX3 (M541V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2989954	NM_005996.4(TBX3):c.1374C>T (p.Ala458=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2986101	NM_005996.4(TBX3):c.1710+6G>C	TBX3	Single nucleotide variant (intron variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2983234	NM_005996.4(TBX3):c.1923C>T (p.Pro641=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2982714	NM_005996.4(TBX3):c.1482C>T (p.Asn494=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2979218	NM_005996.4(TBX3):c.881+18T>C	TBX3	Single nucleotide variant (intron variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2968474	NM_005996.4(TBX3):c.988G>A (p.Ala330Thr)	TBX3 (A350T +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2919303	NM_005996.4(TBX3):c.1328C>T (p.Ala443Val)	TBX3 (A443V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2919152	NM_005996.4(TBX3):c.1558G>A (p.Gly520Ser)	TBX3 (G540S +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2918173	NM_005996.4(TBX3):c.882-4A>G	TBX3	Single nucleotide variant (intron variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2916530	NM_005996.4(TBX3):c.2069T>C (p.Leu690Pro)	TBX3 (L710P +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2916384	NM_005996.4(TBX3):c.658-20C>T	TBX3	Single nucleotide variant (intron variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2915182	NM_005996.4(TBX3):c.1324A>G (p.Thr442Ala)	TBX3 (T442A +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2915181	NM_005996.4(TBX3):c.1326A>T (p.Thr442=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2915180	NM_005996.4(TBX3):c.1330_1332del (p.Pro444del)	TBX3 (P444del +1 more)	Deletion (inframe_deletion)	Ulnar-mammary syndrome	GUncertain significance
Select item 2911791	NM_005996.4(TBX3):c.1947C>A (p.Pro649=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2906039	NM_005996.4(TBX3):c.559C>G (p.His187Asp)	TBX3 (H187D)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2905292	NM_005996.4(TBX3):c.746G>A (p.Arg249Gln)	TBX3 (R249Q +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2903312	NM_005996.4(TBX3):c.1479C>T (p.Phe493=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2902993	NM_005996.4(TBX3):c.389+20_389+22del	TBX3, TBX3-AS1	Microsatellite (intron variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2899325	NM_005996.4(TBX3):c.564G>A (p.Pro188=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2896872	NM_005996.4(TBX3):c.1097_1098delinsTT (p.Gly366Val)	TBX3 (G386V +1 more)	Indel (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2895862	NM_005996.4(TBX3):c.756G>C (p.Leu252Phe)	TBX3 (L272F +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2894724	NM_005996.4(TBX3):c.1329G>C (p.Ala443=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2894480	NM_005996.4(TBX3):c.2087C>T (p.Ala696Val)	TBX3 (A696V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2893474	NM_005996.4(TBX3):c.378C>T (p.Thr126=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2893439	NM_005996.4(TBX3):c.1944G>A (p.Gly648=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2888332	NM_005996.4(TBX3):c.1216G>A (p.Gly406Arg)	TBX3 (G406R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2887228	NM_005996.4(TBX3):c.2041_2091del (p.Ser681_Ala697del)	TBX3	Deletion (inframe_deletion)	Ulnar-mammary syndrome	GUncertain significance
Select item 2886314	NM_005996.4(TBX3):c.1711-6C>T	TBX3	Single nucleotide variant (intron variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2883400	NM_005996.4(TBX3):c.604G>A (p.Val202Ile)	TBX3 (V202I)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2882419	NM_005996.4(TBX3):c.1272C>A (p.Ser424=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2882174	NM_005996.4(TBX3):c.627C>G (p.Leu209=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2878511	NM_005996.4(TBX3):c.1836C>G (p.Asn612Lys)	TBX3 (N612K +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2874816	NM_005996.4(TBX3):c.1710+13C>G	TBX3	Single nucleotide variant (intron variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2870300	NM_005996.4(TBX3):c.1940C>A (p.Ala647Glu)	TBX3 (A667E +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2869938	NM_005996.4(TBX3):c.735T>C (p.Tyr245=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2866652	NM_005996.4(TBX3):c.850C>T (p.Arg284Trp)	TBX3 (R284W +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2858422	NM_005996.4(TBX3):c.1912A>G (p.Thr638Ala)	TBX3 (T638A +1 more)	Single nucleotide variant (missense variant)	TBX3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2857233	NM_005996.4(TBX3):c.2096G>A (p.Ser699Asn)	TBX3 (S699N +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2856368	NM_005996.4(TBX3):c.1599C>G (p.Val533=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2853883	NM_005996.4(TBX3):c.562C>T (p.Pro188Ser)	TBX3 (P188S)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2846464	NM_005996.4(TBX3):c.1172C>G (p.Ala391Gly)	TBX3 (A411G +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2835763	NM_005996.4(TBX3):c.973G>A (p.Ala325Thr)	TBX3 (A325T +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2827680	NM_005996.4(TBX3):c.1969C>G (p.Leu657Val)	TBX3 (L657V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2827679	NM_005996.4(TBX3):c.2068C>G (p.Leu690Val)	TBX3 (L710V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2821994	NM_005996.4(TBX3):c.1645G>A (p.Gly549Arg)	TBX3 (G569R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2815119	NM_005996.4(TBX3):c.1044A>G (p.Leu348=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2815099	NM_005996.4(TBX3):c.1934C>T (p.Ala645Val)	TBX3 (A645V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2811325	NM_005996.4(TBX3):c.1016C>T (p.Thr339Ile)	TBX3 (T339I +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2808258	NM_005996.4(TBX3):c.2114A>G (p.Gln705Arg)	TBX3 (Q725R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2805710	NM_005996.4(TBX3):c.1688A>G (p.Gln563Arg)	TBX3 (Q583R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2804814	NM_005996.4(TBX3):c.741A>G (p.Thr247=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2804226	NM_005996.4(TBX3):c.1726C>T (p.Pro576Ser)	TBX3 (P596S +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2803636	NM_005996.4(TBX3):c.96_97delinsCT (p.Val33Leu)	TBX3, TBX3-AS1 (V33L)	Indel (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2799999	NM_005996.4(TBX3):c.140C>T (p.Pro47Leu)	TBX3, TBX3-AS1 (P47L)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2786514	NM_005996.4(TBX3):c.5G>C (p.Ser2Thr)	TBX3, TBX3-AS1 (S2T)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2780751	NM_005996.4(TBX3):c.1078G>C (p.Glu360Gln)	TBX3 (E380Q +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2777802	NM_005996.4(TBX3):c.549G>A (p.Arg183=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign

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