Related gene-specific medical variations for Gene (Select 6926) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358646	NM_005996.4(TBX3):c.174C>G (p.Gly58=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3358446	NM_005996.4(TBX3):c.57G>T (p.Pro19=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3357872	NM_005996.4(TBX3):c.286G>A (p.Glu96Lys)	TBX3, TBX3-AS1 (E96K)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 3357000	NM_005996.4(TBX3):c.-881_-880insGTCT	TBX3, TBX3-AS1	Insertion (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3356184	NM_005996.4(TBX3):c.-865_-852del	TBX3, TBX3-AS1	Deletion (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3356123	NM_005996.4(TBX3):c.135G>T (p.Thr45=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3355816	NM_005996.4(TBX3):c.-870_-869insT	TBX3, TBX3-AS1	Insertion (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3355317	NM_005996.4(TBX3):c.234C>T (p.Phe78=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3355217	NM_005996.4(TBX3):c.-872_-871insT	TBX3, TBX3-AS1	Insertion (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3354811	NM_005996.4(TBX3):c.-895TC[21]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3354239	NM_005996.4(TBX3):c.3G>A (p.Met1Ile)	TBX3, TBX3-AS1 (M1I)	Single nucleotide variant (missense variant +1 more)	TBX3-related disorder	GUncertain significance
Select item 3353761	NM_005996.4(TBX3):c.-871_-863del	TBX3, TBX3-AS1	Deletion (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3353682	NM_005996.4(TBX3):c.-895TC[22]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3352610	NM_005996.4(TBX3):c.254C>T (p.Ala85Val)	TBX3, TBX3-AS1 (A85V)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 3349131	NM_005996.4(TBX3):c.278T>G (p.Met93Arg)	TBX3, TBX3-AS1 (M93R)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 3348711	NM_005996.4(TBX3):c.53A>G (p.His18Arg)	TBX3, TBX3-AS1 (H18R)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 3348318	NM_005996.4(TBX3):c.112C>A (p.Pro38Thr)	TBX3, TBX3-AS1 (P38T)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 3347474	NM_005996.4(TBX3):c.86C>T (p.Ala29Val)	TBX3, TBX3-AS1 (A29V)	Single nucleotide variant (missense variant)	TBX3-related disorder	GUncertain significance
Select item 3324871	NM_005996.4(TBX3):c.383C>T (p.Ser128Leu)	TBX3, TBX3-AS1 (S128L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174971	NM_005996.4(TBX3):c.8T>G (p.Leu3Arg)	TBX3, TBX3-AS1 (L3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3060700	NM_005996.4(TBX3):c.-895TC[19]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3057044	NM_005996.4(TBX3):c.363C>T (p.Thr121=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	TBX3-related disorder	GLikely benign
Select item 3052954	NM_005996.4(TBX3):c.-1G>C	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3043048	NM_005996.4(TBX3):c.-895TC[10]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3040340	NM_005996.4(TBX3):c.-872_-871insTCCC	TBX3, TBX3-AS1	Insertion (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3038367	NM_005996.4(TBX3):c.-871C>T	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3038155	NM_005996.4(TBX3):c.96G>C (p.Ala32=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037713	NM_005996.4(TBX3):c.-879T>C	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3035563	NM_005996.4(TBX3):c.-895TC[20]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related disorder	GLikely benign
Select item 3031122	NM_005996.4(TBX3):c.-895TC[8]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	TBX3-related disorder	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 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 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 2777002	NM_005996.4(TBX3):c.246G>A (p.Gly82=)	TBX3, TBX3-AS1	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 2441721	NM_005996.4(TBX3):c.1763T>G (p.Met588Arg)	TBX3 (M588R +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2399855	NM_005996.4(TBX3):c.254C>A (p.Ala85Glu)	TBX3, TBX3-AS1 (A85E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359784	NM_005996.4(TBX3):c.97G>T (p.Val33Leu)	TBX3, TBX3-AS1 (V33L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2335966	NM_005996.4(TBX3):c.283C>T (p.Pro95Ser)	TBX3, TBX3-AS1 (P95S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2181347	NM_005996.4(TBX3):c.282G>A (p.Glu94=)	TBX3-AS1, TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2149513	NM_005996.4(TBX3):c.230C>G (p.Pro77Arg)	TBX3, TBX3-AS1 (P77R)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2126417	NM_005996.4(TBX3):c.71G>A (p.Arg24Gln)	TBX3, TBX3-AS1 (R24Q)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 2023435	NM_005996.4(TBX3):c.12C>G (p.Ser4=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 2012986	NM_005996.4(TBX3):c.24G>T (p.Pro8=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 1578397	NM_005996.4(TBX3):c.231G>T (p.Pro77=)	TBX3-AS1, TBX3	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 1527734	GRCh37/hg19 12q24.21(chr12:114995645-115376925)	TBX3	Copy number loss	not specified	GPathogenic
Select item 1394632	NM_005996.4(TBX3):c.264G>C (p.Arg88Ser)	TBX3, TBX3-AS1 (R88S)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 1338818	NM_005996.4(TBX3):c.337T>G (p.Trp113Gly)	TBX3, TBX3-AS1 (W113G)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GLikely pathogenic
Select item 1328732	NM_005996.4(TBX3):c.385G>A (p.Gly129Arg)	TBX3, TBX3-AS1 (G129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304611	NM_005996.4(TBX3):c.178C>T (p.Leu60=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1281450	NM_005996.4(TBX3):c.-895TC[16]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1234843	NM_005996.4(TBX3):c.389+283dup	TBX3, TBX3-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1232587	NM_005996.4(TBX3):c.-895TC[13]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1028467	NM_005996.4(TBX3):c.247C>A (p.Pro83Thr)	TBX3, TBX3-AS1 (P83T)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 987156	NM_005996.4(TBX3):c.1190del (p.Phe397fs)	TBX3 (F397fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 931444	NM_005996.4(TBX3):c.1477T>G (p.Phe493Val)	TBX3 (F493V +1 more)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 883063	NM_005996.4(TBX3):c.-147G>A	TBX3-AS1, TBX3	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 883062	NM_005996.4(TBX3):c.-102C>G	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 883061	NM_005996.4(TBX3):c.21T>G (p.Asp7Glu)	TBX3, TBX3-AS1 (D7E)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 881960	NM_005996.4(TBX3):c.-937A>G	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 881959	NM_005996.4(TBX3):c.-909C>T	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 881958	NM_005996.4(TBX3):c.-835C>T	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 881957	NM_005996.4(TBX3):c.-829A>G	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 881956	NM_005996.4(TBX3):c.-688A>G	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 881883	NM_005996.4(TBX3):c.309C>T (p.Pro103=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GBenign
Select item 880541	NM_005996.4(TBX3):c.-548C>A	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 766943	NM_005996.4(TBX3):c.126C>T (p.Pro42=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GBenign
Select item 743382	NM_005996.4(TBX3):c.336T>G (p.Leu112=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 737868	NM_005996.4(TBX3):c.189G>T (p.Pro63=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722204	NM_005996.4(TBX3):c.281A>G (p.Glu94Gly)	TBX3, TBX3-AS1 (E94G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718181	NM_005996.4(TBX3):c.72G>A (p.Arg24=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716572	NM_005996.4(TBX3):c.96G>T (p.Ala32=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 707158	NM_005996.4(TBX3):c.216C>T (p.Ala72=)	TBX3, TBX3-AS1	Single nucleotide variant (synonymous variant)	Ulnar-mammary syndrome	GLikely benign
Select item 580223	NM_005996.4(TBX3):c.151G>A (p.Ala51Thr)	TBX3, TBX3-AS1 (A51T)	Single nucleotide variant (missense variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 563916	GRCh37/hg19 12q24.21(chr12:114948986-115167687)x3	TBX3	Copy number gain	not provided	GUncertain significance
Select item 522089	NM_005996.4(TBX3):c.370G>T (p.Val124Phe)	TBX3, TBX3-AS1 (V124F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 307408	NM_005996.4(TBX3):c.-910C>G	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307407	NM_005996.4(TBX3):c.-895TC[15]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307406	NM_005996.4(TBX3):c.-873_-872insTT	TBX3-AS1, TBX3	Insertion (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307405	NM_005996.4(TBX3):c.-895TC[11]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	Ulnar-mammary syndrome +1 more	GConflicting classifications of pathogenicity
Select item 307404	NM_005996.4(TBX3):c.-872_-871insTCCCTC	TBX3, TBX3-AS1	Insertion (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307403	NM_005996.4(TBX3):c.-895TC[18]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307402	NM_005996.4(TBX3):c.-895TC[17]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307401	NM_005996.4(TBX3):c.-895TC[14]	TBX3, TBX3-AS1	Microsatellite (5 prime UTR variant)	Ulnar-mammary syndrome +1 more	GConflicting classifications of pathogenicity
Select item 307400	NM_005996.4(TBX3):c.-727T>C	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign
Select item 307399	NM_005996.4(TBX3):c.-591del	TBX3, TBX3-AS1	Deletion (5 prime UTR variant)	Ulnar-mammary syndrome	GBenign
Select item 307398	NM_005996.4(TBX3):c.-591dup	TBX3, TBX3-AS1	Duplication (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307397	NM_005996.4(TBX3):c.-568T>A	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307396	NM_005996.4(TBX3):c.-517_-514del	TBX3, TBX3-AS1	Deletion (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307395	NM_005996.4(TBX3):c.-507G>T	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307394	NM_005996.4(TBX3):c.-441C>G	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307393	NM_005996.4(TBX3):c.-417T>G	TBX3-AS1, TBX3	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome +1 more	GBenign
Select item 307392	NM_005996.4(TBX3):c.-392A>G	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307391	NM_005996.4(TBX3):c.-378T>A	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GUncertain significance
Select item 307390	NM_005996.4(TBX3):c.-366G>T	TBX3, TBX3-AS1	Single nucleotide variant (5 prime UTR variant)	Ulnar-mammary syndrome	GBenign

<< First< Prev

Page of 2