TBX1[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 968

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168328	NC_000022.11:g.19755901C>T	TBX1	Single nucleotide variant	DiGeorge syndrome	GBenign
Select item 640457	NC_000022.11:g.(?_19755950)_(19759697_?)del	TBX1	Deletion	DiGeorge syndrome	GPathogenic
Select item 455793	NM_080647.1(TBX1):c.-882C>T	TBX1	Single nucleotide variant	DiGeorge syndrome	GBenign
Select item 3048259	NC_000022.11:g.19756062T>G	TBX1	Single nucleotide variant	TBX1-related disorder	GLikely benign
Select item 150947	GRCh38/hg38 22q11.21(chr22:19758692-19760415)x3	TBX1	Copy number gain	See cases	GLikely benign
Select item 1290981	NM_080647.1(TBX1):c.-86-178A>T	TBX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652866	NM_080647.1(TBX1):c.-86-48C>G	TBX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264784	NM_080647.1(TBX1):c.-86-39C>T	TBX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3361057	NM_080647.1(TBX1):c.-86-2A>G	TBX1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1294260	NM_080647.1(TBX1):c.-85G>C	TBX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1220890	NM_080647.1(TBX1):c.-85delinsTC	TBX1	Indel (5 prime UTR variant)	not provided	GBenign
Select item 379734	NM_080647.1(TBX1):c.-39C>T	TBX1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 3233491	NM_080647.1(TBX1):c.-16A>C	TBX1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2028913	NM_080647.1(TBX1):c.-4_6del (p.Met1fs)	TBX1 (M1fs)	Deletion (frameshift variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 389277	NM_080647.1(TBX1):c.-3G>A	TBX1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 2501643	NM_080647.1(TBX1):c.14C>T (p.Thr5Ile)	TBX1 (T5I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 706401	NM_080647.1(TBX1):c.15C>T (p.Thr5=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 500791	NM_080647.1(TBX1):c.15C>A (p.Thr5=)	TBX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1782263	NM_080647.1(TBX1):c.18C>G (p.Val6=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1794892	NM_080647.1(TBX1):c.26A>T (p.Asp9Val)	TBX1 (D9V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1020038	NM_080647.1(TBX1):c.28A>G (p.Met10Val)	TBX1 (M10V)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2914171	NM_080647.1(TBX1):c.34+2T>A	TBX1	Single nucleotide variant (splice donor variant)	DiGeorge syndrome	GLikely pathogenic
Select item 504134	NM_080647.1(TBX1):c.34+5G>A	TBX1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1018677	NM_080647.1(TBX1):c.34+6C>T	TBX1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2914971	NM_080647.1(TBX1):c.34+12G>A	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2727544	NM_080647.1(TBX1):c.34+17T>A	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2794447	NM_080647.1(TBX1):c.34+18G>C	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 1186588	NM_080647.1(TBX1):c.34+289dup	TBX1	Duplication (intron variant)	not provided	GLikely benign
Select item 1234968	NM_080647.1(TBX1):c.34+285G>C	TBX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209124	NM_080647.1(TBX1):c.34+286G>T	TBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196348	NM_080647.1(TBX1):c.34+287G>A	TBX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278756	NM_001379200.1(TBX1):c.-55G>C	TBX1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1701431	NM_001379200.1(TBX1):c.21C>T (p.Ser7=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1944327	NM_001379200.1(TBX1):c.42G>T (p.Ser14=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2884595	NM_001379200.1(TBX1):c.45T>C (p.His15=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2163092	NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)	TBX1 (C17R)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 1657570	NM_001379200.1(TBX1):c.51C>T (p.Cys17=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 668147	NM_001379200.1(TBX1):c.55G>C (p.Val19Leu)	TBX1 (V19L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3235917	NM_001379200.1(TBX1):c.61G>A (p.Ala21Thr)	TBX1 (A21T)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome +1 more	GLikely pathogenic
Select item 2180357	NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys)	TBX1 (T14K +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 1554832	NM_001379200.1(TBX1):c.69G>C (p.Thr23=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1376995	NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr)	TBX1 (A15T +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 2499798	NM_001379200.1(TBX1):c.73A>T (p.Ser25Cys)	TBX1 (S16C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1744656	NM_001379200.1(TBX1):c.76A>G (p.Ser26Gly)	TBX1 (S26G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1746012	NM_001379200.1(TBX1):c.78C>G (p.Ser26Arg)	TBX1 (S17R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1748541	NM_001379200.1(TBX1):c.82A>C (p.Ser28Arg)	TBX1 (S19R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1749162	NM_001379200.1(TBX1):c.83G>T (p.Ser28Ile)	TBX1 (S28I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1750373	NM_001379200.1(TBX1):c.85A>G (p.Ser29Gly)	TBX1 (S29G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 971780	NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)	TBX1 (L21fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1751591	NM_001379200.1(TBX1):c.87C>G (p.Ser29Arg)	TBX1 (S29R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 707121	NM_001379200.1(TBX1):c.90G>T (p.Leu30=)	TBX1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2146785	NM_001379200.1(TBX1):c.92G>T (p.Gly31Val)	TBX1 (G31V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2447900	NM_001379200.1(TBX1):c.93G>T (p.Gly31=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2436986	NM_001379200.1(TBX1):c.94G>A (p.Ala32Thr)	TBX1 (A23T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 959519	NM_001379200.1(TBX1):c.95C>T (p.Ala32Val)	TBX1 (A23V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 2475551	NM_001379200.1(TBX1):c.96C>G (p.Ala32=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 770091	NM_001379200.1(TBX1):c.96C>T (p.Ala32=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1023859	NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)	TBX1 (A24S +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 1757649	NM_001379200.1(TBX1):c.98C>T (p.Ala33Val)	TBX1 (A24V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1758722	NM_001379200.1(TBX1):c.100G>A (p.Gly34Arg)	TBX1 (G25R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1759209	NM_001379200.1(TBX1):c.101G>A (p.Gly34Glu)	TBX1 (G25E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1013764	NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala)	TBX1 (G25A +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 1759734	NM_001379200.1(TBX1):c.102G>A (p.Gly34=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 520394	NM_001379200.1(TBX1):c.102G>T (p.Gly34=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome +2 more	GBenign
Select item 2194749	NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp)	TBX1 (G35D +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2056420	NM_001379200.1(TBX1):c.104G>T (p.Gly35Val)	TBX1 (G26V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 518821	NM_001379200.1(TBX1):c.105C>G (p.Gly35=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3324835	NM_001379200.1(TBX1):c.106T>C (p.Phe36Leu)	TBX1 (F27L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2018768	NM_001379200.1(TBX1):c.115_213del (p.Ala39_Gly71del)	TBX1	Deletion (inframe_deletion)	DiGeorge syndrome	GUncertain significance
Select item 1585381	NM_001379200.1(TBX1):c.108C>T (p.Phe36=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1486103	NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr)	TBX1 (P28T +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 1710695	NM_001379200.1(TBX1):c.110C>T (p.Pro37Leu)	TBX1 (P28L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1307788	NM_001379200.1(TBX1):c.113G>A (p.Gly38Asp)	TBX1 (G29D +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 2779473	NM_001379200.1(TBX1):c.114C>A (p.Gly38=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 1764715	NM_001379200.1(TBX1):c.114C>T (p.Gly38=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2562907	NM_001379200.1(TBX1):c.115G>T (p.Ala39Ser)	TBX1 (A39S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2161461	NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr)	TBX1 (A30T +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2729545	NM_001379200.1(TBX1):c.117C>T (p.Ala39=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 1429095	NM_001379200.1(TBX1):c.119C>T (p.Ala40Val)	TBX1 (A31V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +1 more	GUncertain significance
Select item 1767186	NM_001379200.1(TBX1):c.121T>G (p.Ser41Ala)	TBX1 (S32A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767184	NM_001379200.1(TBX1):c.121T>C (p.Ser41Pro)	TBX1 (S32P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1057870	NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser)	TBX1 (P33S +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2176047	NM_001379200.1(TBX1):c.126C>T (p.Pro42=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 1768878	NM_001379200.1(TBX1):c.126C>G (p.Pro42=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1413579	NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser)	TBX1 (G43S +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 860548	NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys)	TBX1 (G34C +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 1779745	NM_001379200.1(TBX1):c.132C>G (p.Ala44=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1785838	NM_001379200.1(TBX1):c.134A>C (p.Asp45Ala)	TBX1 (D45A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1491850	NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu)	TBX1 (P37L +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 1797314	NM_001379200.1(TBX1):c.138G>A (p.Pro46=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1960389	NM_001379200.1(TBX1):c.141C>T (p.Tyr47=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 1718784	NM_001379200.1(TBX1):c.143G>T (p.Gly48Val)	TBX1 (G39V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 1744480	NM_001379200.1(TBX1):c.145C>G (p.Pro49Ala)	TBX1 (P40A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3324838	NM_001379200.1(TBX1):c.148C>G (p.Arg50Gly)	TBX1 (R41G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 636939	NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)	TBX1	Deletion (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 2447903	NM_001379200.1(TBX1):c.152A>C (p.Glu51Ala)	TBX1 (E42A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3007082	NM_001379200.1(TBX1):c.153G>A (p.Glu51=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2971791	NM_001379200.1(TBX1):c.154C>A (p.Pro52Thr)	TBX1 (P43T +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2093595	NM_001379200.1(TBX1):c.156C>A (p.Pro52=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 1990102	NM_001379200.1(TBX1):c.156C>T (p.Pro52=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign

<< First< Prev

Page of 10