ClinVar for MedGen (Select 357886) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 357

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
Select item 2777586	NM_005996.4(TBX3):c.1136C>T (p.Thr379Met)	TBX3 (T399M +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2777002	NM_005996.4(TBX3):c.246G>A (p.Gly82=)	TBX3-AS1, TBX3	Single nucleotide variant (synonymous variant)	TBX3-related condition +1 more	GLikely benign
Select item 2762206	NM_005996.4(TBX3):c.1403C>T (p.Ala468Val)	TBX3 (A468V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2742380	NM_005996.4(TBX3):c.1976C>A (p.Ala659Asp)	TBX3 (A659D +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2740799	NM_005996.4(TBX3):c.1811A>G (p.His604Arg)	TBX3 (H624R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2738520	NM_005996.4(TBX3):c.1410C>T (p.Ala470=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2733140	NM_005996.4(TBX3):c.1240G>A (p.Asp414Asn)	TBX3 (D414N +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2731504	NM_005996.4(TBX3):c.1350G>A (p.Ala450=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2730607	NM_005996.4(TBX3):c.1614C>T (p.Ser538=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2730383	NM_005996.4(TBX3):c.366G>A (p.Glu122=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2730239	NM_005996.4(TBX3):c.1382C>G (p.Pro461Arg)	TBX3 (P461R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2728638	NM_005996.4(TBX3):c.1657G>C (p.Ala553Pro)	TBX3 (A573P +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2726265	NM_005996.4(TBX3):c.1404G>A (p.Ala468=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2725113	NM_005996.4(TBX3):c.1821C>T (p.Pro607=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2723373	NM_005996.4(TBX3):c.2045G>A (p.Ser682Asn)	TBX3 (S682N +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2721784	NM_005996.4(TBX3):c.2076G>A (p.Ala692=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2718893	NM_005996.4(TBX3):c.1153C>T (p.Arg385Cys)	TBX3 (R385C +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2718325	NM_005996.4(TBX3):c.2160C>T (p.Ser720=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome +1 more	GLikely benign
Select item 2709083	NM_005996.4(TBX3):c.438dup (p.Ala147fs)	TBX3 (A147fs)	Duplication (frameshift variant)	Ulnar-mammary syndrome	GPathogenic
Select item 2699991	NM_005996.4(TBX3):c.1429_1430delinsAA (p.Pro477Asn)	TBX3 (P497N +1 more)	Indel (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2699192	NM_005996.4(TBX3):c.870A>C (p.Arg290=)	TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome +1 more	GLikely benign
Select item 2690226	NM_005996.4(TBX3):c.1462G>A (p.Ala488Thr)	TBX3 (A488T +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2674592	NM_005996.4(TBX3):c.830A>C (p.Asn277Thr)	TBX3 (N277T +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2672523	NM_005996.4(TBX3):c.904A>G (p.Met302Val)	TBX3 (M302V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome +1 more	GUncertain significance
Select item 2627433	NM_005996.4(TBX3):c.1121A>C (p.Lys374Thr)	TBX3 (K374T +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2623499	NM_005996.4(TBX3):c.1540A>G (p.Met514Val)	TBX3 (M514V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2502305	NM_005996.4(TBX3):c.868C>T (p.Arg290Ter)	TBX3 (R290* +1 more)	Single nucleotide variant (nonsense)	Ulnar-mammary syndrome	GPathogenic
Select item 2471653	NM_005996.4(TBX3):c.1427G>T (p.Gly476Val)	TBX3 (G496V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome +2 more	GUncertain significance
Select item 2445206	NM_005996.4(TBX3):c.1287_1294dup (p.Glu432fs)	TBX3 (E432fs +1 more)	Duplication (frameshift variant)	Ulnar-mammary syndrome	GPathogenic
Select item 2444419	NM_005996.4(TBX3):c.1170dup (p.Ala391fs)	TBX3 (A391fs +1 more)	Duplication (frameshift variant)	Ulnar-mammary syndrome	GLikely pathogenic
Select item 2441721	NM_005996.4(TBX3):c.1763T>G (p.Met588Arg)	TBX3 (M588R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance

<< First< Prev

Page of 4