ClinVar for Gene (Select 6899) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3233491	NM_080647.1(TBX1):c.-16A>C	TBX1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3228974	NM_001379200.1(TBX1):c.969C>T (p.Leu323=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3228973	NM_001379200.1(TBX1):c.924C>T (p.Asp308=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3228972	NM_001379200.1(TBX1):c.864T>G (p.His288Gln)	TBX1 (H279Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3228971	NM_001379200.1(TBX1):c.742C>G (p.Pro248Ala)	TBX1 (P239A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3228970	NM_001379200.1(TBX1):c.619G>C (p.Asp207His)	TBX1 (D198H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3228969	NM_001379200.1(TBX1):c.354T>A (p.Gly118=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3228968	NM_001379200.1(TBX1):c.255C>G (p.Ala85=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3228967	NM_001379200.1(TBX1):c.204C>T (p.Gly68=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3228966	NM_001379200.1(TBX1):c.195C>T (p.Ala65=)	TBX1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3228965	NM_001379200.1(TBX1):c.1416C>T (p.Ala472=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3228964	NM_001379200.1(TBX1):c.1294T>G (p.Tyr432Asp)	TBX1 (Y423D +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3228963	NM_001379200.1(TBX1):c.1182G>A (p.Leu394=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3228962	NM_001379200.1(TBX1):c.1074G>T (p.Ala358=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3174921	NM_001379200.1(TBX1):c.391G>C (p.Glu131Gln)	TBX1 (E122Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3174920	NM_001379200.1(TBX1):c.187G>T (p.Ala63Ser)	TBX1 (A54S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3174919	NM_001379200.1(TBX1):c.180C>G (p.Asp60Glu)	TBX1 (D51E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3174918	NM_001379200.1(TBX1):c.173G>A (p.Arg58His)	TBX1 (R58H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3174917	NM_001379200.1(TBX1):c.1352_1353insGCAGCG (p.Arg451_Gly452insGlnArg)	TBX1	Insertion (inframe_insertion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3174916	NM_001379200.1(TBX1):c.1310G>A (p.Gly437Glu)	TBX1 (G428E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3174915	NM_001379200.1(TBX1):c.1175T>G (p.Val392Gly)	TBX1 (V383G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3062466	GRCh37/hg19 22q11.21(chr22:19651034-19879938)x3	GNB1L, GP1BB +4 more	Copy number gain	not specified	GUncertain significance
Select item 3053043	NM_005992.1(TBX1):c.1021G>C (p.Glu341Gln)	TBX1 (E341Q)	Single nucleotide variant (missense variant)	TBX1-related disorder	GLikely benign
Select item 3052490	NM_001379200.1(TBX1):c.1444G>C (p.Ala482Pro)	TBX1 (A473P +1 more)	Single nucleotide variant (missense variant +1 more)	TBX1-related disorder	GUncertain significance
Select item 3048259	NC_000022.11:g.19756062T>G	TBX1	Single nucleotide variant	TBX1-related disorder	GLikely benign
Select item 3046742	NM_001379200.1(TBX1):c.868-10C>T	TBX1	Single nucleotide variant (intron variant)	TBX1-related disorder	GLikely benign
Select item 3039647	NM_001379200.1(TBX1):c.999_1000delinsAA (p.Val334Met)	TBX1 (V325M +1 more)	Indel (missense variant)	TBX1-related disorder	GUncertain significance
Select item 3036486	NM_080646.2(TBX1):c.1177G>A (p.Ala393Thr)	TBX1 (A393T)	Single nucleotide variant (missense variant +1 more)	TBX1-related disorder	GLikely benign
Select item 3034724	NM_001379200.1(TBX1):c.857A>G (p.Gln286Arg)	TBX1 (Q277R +1 more)	Single nucleotide variant (missense variant)	TBX1-related disorder	GLikely pathogenic
Select item 3029482	NM_001379200.1(TBX1):c.999C>A (p.Pro333=)	TBX1	Single nucleotide variant (synonymous variant)	TBX1-related disorder	GLikely benign
Select item 3028918	NM_080647.1:g.(?_19241636)_(21349222_?)del	TBX1	Deletion	DiGeorge syndrome	GPathogenic
Select item 3020052	NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)	TBX1 (A213V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 3019473	NM_001379200.1(TBX1):c.1096G>A (p.Asp366Asn)	TBX1 (D366N +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 3019319	NM_001379200.1(TBX1):c.936-15G>C	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 3018112	NM_001379200.1(TBX1):c.519G>T (p.Pro173=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 3013316	NM_001379200.1(TBX1):c.1282C>T (p.Pro428Ser)	TBX1 (P419S +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	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 2996292	NM_001379200.1(TBX1):c.1165G>A (p.Gly389Ser)	TBX1 (G389S +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2995094	NM_001379200.1(TBX1):c.1321C>T (p.Arg441Trp)	TBX1 (R441W +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2994427	NM_001379200.1(TBX1):c.1422C>T (p.Ala474=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2991249	NM_001379200.1(TBX1):c.539+8A>T	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2989531	NM_001379200.1(TBX1):c.187GCC[3] (p.Ala66del)	TBX1 (A57del +1 more)	Microsatellite (inframe_deletion)	DiGeorge syndrome	GUncertain significance
Select item 2988807	NM_001379200.1(TBX1):c.1029G>A (p.Thr343=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2980723	NM_001379200.1(TBX1):c.1196G>T (p.Gly399Val)	TBX1 (G399V +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2975358	NM_001379200.1(TBX1):c.867+18G>A	TBX1	Single nucleotide variant (intron 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 2964371	NM_001379200.1(TBX1):c.949C>G (p.Arg317Gly)	TBX1 (R308G +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2960830	NM_001379200.1(TBX1):c.876G>A (p.Gln292=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2956049	NM_001379200.1(TBX1):c.474C>T (p.Gly158=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2955507	NM_001379200.1(TBX1):c.1508C>T (p.Pro503Leu)	TBX1 (P494L +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2918811	NM_001379200.1(TBX1):c.1370C>G (p.Pro457Arg)	TBX1 (P448R +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2917318	NM_001379200.1(TBX1):c.198_229dup (p.His77fs)	TBX1 (H68fs +1 more)	Duplication (frameshift variant)	DiGeorge syndrome	GPathogenic
Select item 2916055	NM_001379200.1(TBX1):c.820T>C (p.Phe274Leu)	TBX1 (F274L +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	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 2914907	NM_001379200.1(TBX1):c.437+18C>T	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2914171	NM_080647.1(TBX1):c.34+2T>A	TBX1	Single nucleotide variant (splice donor variant)	DiGeorge syndrome	GLikely pathogenic
Select item 2914057	NM_001379200.1(TBX1):c.1071C>A (p.Asp357Glu)	TBX1 (D348E +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2912184	NM_001379200.1(TBX1):c.1051C>T (p.Arg351Trp)	TBX1 (R342W +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2912021	NM_001379200.1(TBX1):c.539+6C>T	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GUncertain significance
Select item 2910690	NM_001379200.1(TBX1):c.870C>A (p.Ile290=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2908442	NM_001379200.1(TBX1):c.240G>A (p.Pro80=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2908033	NM_001379200.1(TBX1):c.1408_1416del (p.Pro470_Ala472del)	TBX1	Deletion (inframe_deletion +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2905978	NM_001379200.1(TBX1):c.237C>T (p.Tyr79=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2905619	NM_001379200.1(TBX1):c.1020C>T (p.Pro340=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2904728	NM_001379200.1(TBX1):c.1000G>A (p.Val334Met)	TBX1 (V325M +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2904397	NM_001379200.1(TBX1):c.166C>T (p.Pro56Ser)	TBX1 (P56S +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2903125	NM_001379200.1(TBX1):c.935+17G>A	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2900029	NM_001379200.1(TBX1):c.225G>C (p.Pro75=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2898910	NM_001379200.1(TBX1):c.657C>A (p.Ile219=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2893777	NM_001379200.1(TBX1):c.1158C>T (p.Gly386=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2892901	NM_001379200.1(TBX1):c.247C>T (p.Pro83Ser)	TBX1 (P83S +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2891403	NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)	TBX1	Microsatellite (inframe_insertion +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2890635	NM_001379200.1(TBX1):c.1167C>T (p.Gly389=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2886219	NM_001379200.1(TBX1):c.437+8C>T	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
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 2883128	NM_001379200.1(TBX1):c.1495T>G (p.Tyr499Asp)	TBX1 (Y499D +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2882252	NM_001379200.1(TBX1):c.1180C>A (p.Leu394Met)	TBX1 (L394M +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2873157	NM_001379200.1(TBX1):c.224C>T (p.Pro75Leu)	TBX1 (P66L +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2870593	NM_001379200.1(TBX1):c.840C>G (p.Thr280=)	TBX1	Single nucleotide variant (synonymous variant)	DiGeorge syndrome	GLikely benign
Select item 2869420	NM_001379200.1(TBX1):c.711+6C>T	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GUncertain significance
Select item 2868628	NM_001379200.1(TBX1):c.1443T>C (p.Ala481=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2867757	NM_001379200.1(TBX1):c.514G>A (p.Val172Met)	TBX1 (V163M +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2866293	NM_001379200.1(TBX1):c.243del (p.Phe81fs)	TBX1 (F81fs +1 more)	Deletion (frameshift variant)	DiGeorge syndrome	GPathogenic
Select item 2865992	NM_001379200.1(TBX1):c.1224G>A (p.Glu408=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome +1 more	GLikely benign
Select item 2865222	NM_001379200.1(TBX1):c.884T>C (p.Ile295Thr)	TBX1 (I286T +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2862172	NM_001379200.1(TBX1):c.562T>C (p.Trp188Arg)	TBX1 (W179R +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance
Select item 2861233	NM_001379200.1(TBX1):c.1265A>G (p.His422Arg)	TBX1 (H413R +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2859696	NM_001379200.1(TBX1):c.1306C>T (p.Leu436Phe)	TBX1 (L427F +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome	GUncertain significance
Select item 2857144	NM_001379200.1(TBX1):c.1239G>T (p.Ala413=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2852573	NM_001379200.1(TBX1):c.1104G>C (p.Ala368=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome	GLikely benign
Select item 2850945	NM_001379200.1(TBX1):c.936-4G>C	TBX1	Single nucleotide variant (intron variant)	DiGeorge syndrome	GLikely benign
Select item 2848356	NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)	TBX1 (E409* +1 more)	Single nucleotide variant (nonsense +1 more)	DiGeorge syndrome	GPathogenic
Select item 2844976	NM_001379200.1(TBX1):c.527A>G (p.Asp176Gly)	TBX1 (D167G +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome	GUncertain significance

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