TBX22[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368661	NM_001109878.2(TBX22):c.-28G>A	TBX22	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368662	NM_001109878.2(TBX22):c.-23A>G	TBX22	Single nucleotide variant (5 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked	GLikely benign
Select item 1297948	NM_001109878.2(TBX22):c.-2-240AC[22]	TBX22	Microsatellite (intron variant)	not provided	GBenign
Select item 1291809	NM_001109878.2(TBX22):c.-2-240AC[21]	TBX22	Microsatellite (intron variant)	not provided	GBenign
Select item 1239949	NM_001109878.2(TBX22):c.-2-240AC[17]	TBX22	Microsatellite (intron variant)	not provided	GBenign
Select item 1236479	NM_001109878.2(TBX22):c.-2-240AC[18]	TBX22	Microsatellite (intron variant)	not provided	GBenign
Select item 1224711	NM_001109878.2(TBX22):c.-2-240AC[19]	TBX22	Microsatellite (intron variant)	not provided	GBenign
Select item 1271765	NM_001109878.2(TBX22):c.-2-139GTTTT[4]	TBX22	Microsatellite (intron variant)	not provided	GBenign
Select item 804041	NM_001109878.2(TBX22):c.-2-7C>G	TBX22	Single nucleotide variant (5 prime UTR variant +1 more)	Cleft palate with or without ankyloglossia, X-linked +1 more	GBenign/Likely benign
Select item 368663	NM_001109878.2(TBX22):c.-2-7C>A	TBX22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2637299	NM_001109878.2(TBX22):c.1A>G (p.Met1Val)	TBX22 (M1V)	Single nucleotide variant (missense variant +2 more)	TBX22-related disorder	GUncertain significance
Select item 1310069	NM_001109878.2(TBX22):c.20C>A (p.Ala7Glu)	TBX22 (A7E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2302054	NM_001109878.2(TBX22):c.53G>T (p.Arg18Ile)	TBX22 (R18I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261481	NM_001109878.2(TBX22):c.55C>T (p.Pro19Ser)	TBX22 (P19S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3324868	NM_001109878.2(TBX22):c.56C>A (p.Pro19His)	TBX22 (P19H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 368664	NM_001109878.2(TBX22):c.72C>T (p.Leu24=)	TBX22	Single nucleotide variant (synonymous variant +1 more)	Cleft palate with or without ankyloglossia, X-linked +1 more	GBenign
Select item 2300058	NM_001109878.2(TBX22):c.106C>T (p.Arg36Trp)	TBX22 (R36W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 914119	NM_001109878.2(TBX22):c.143G>A (p.Arg48Lys)	TBX22 (R48K)	Single nucleotide variant (missense variant +1 more)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 1302598	NM_001109878.2(TBX22):c.148A>T (p.Ser50Cys)	TBX22 (S50C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2268491	NM_001109878.2(TBX22):c.166G>C (p.Glu56Gln)	TBX22 (E56Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 11333	NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter)	TBX22 (E56*)	Single nucleotide variant (nonsense +1 more)	Cleft palate with ankyloglossia	GPathogenic
Select item 3174962	NM_001109878.2(TBX22):c.170C>T (p.Pro57Leu)	TBX22 (P57L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 445911	NM_001109878.2(TBX22):c.176-13C>A	TBX22	Single nucleotide variant (intron variant)	Cleft palate with or without ankyloglossia, X-linked +1 more	GBenign/Likely benign
Select item 1305015	NM_001109878.2(TBX22):c.176-11G>T	TBX22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 736301	NM_001109878.2(TBX22):c.176-9G>A	TBX22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1050546	NM_001109878.2(TBX22):c.185C>G (p.Pro62Arg)	TBX22 (P62R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2250851	NM_001109878.2(TBX22):c.190A>G (p.Thr64Ala)	TBX22 (T64A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 914120	NM_001109878.2(TBX22):c.224G>T (p.Gly75Val)	TBX22 (G75V)	Single nucleotide variant (missense variant +1 more)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 914121	NM_001109878.2(TBX22):c.240C>T (p.Tyr80=)	TBX22	Single nucleotide variant (synonymous variant +1 more)	Cleft palate with or without ankyloglossia, X-linked	GLikely benign
Select item 914122	NM_001109878.2(TBX22):c.302T>A (p.Leu101Gln)	TBX22 (L101Q)	Single nucleotide variant (missense variant +1 more)	Cleft palate with or without ankyloglossia, X-linked +1 more	GUncertain significance
Select item 2502136	NM_001109878.2(TBX22):c.325G>A (p.Gly109Arg)	TBX22 (G109R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 11330	NM_001109878.2(TBX22):c.352G>T (p.Gly118Cys)	TBX22 (G118C)	Single nucleotide variant (missense variant +1 more)	Cleft palate with ankyloglossia	GPathogenic
Select item 914123	NM_001109878.2(TBX22):c.356+6G>C	TBX22	Single nucleotide variant (5 prime UTR variant +1 more)	Cleft palate with or without ankyloglossia, X-linked	GLikely benign
Select item 2631861	NM_001109878.2(TBX22):c.359G>A (p.Arg120Gln)	TBX22 (R120Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3053364	NM_001109878.2(TBX22):c.394T>C (p.Leu132=)	TBX22	Single nucleotide variant (synonymous variant)	TBX22-related disorder	GLikely benign
Select item 3033069	NM_001109878.2(TBX22):c.438G>A (p.Pro146=)	TBX22	Single nucleotide variant (synonymous variant)	TBX22-related disorder	GLikely benign
Select item 523404	NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln)	TBX22 (K150Q +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft +1 more	GUncertain significance
Select item 2607568	NM_001109878.2(TBX22):c.451C>T (p.Arg151Cys)	TBX22 (R31C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685164	NM_001109878.2(TBX22):c.452G>T (p.Arg151Leu)	TBX22 (R151L +1 more)	Single nucleotide variant (missense variant)	Abruzzo-Erickson syndrome +2 more	GUncertain significance
Select item 2660977	NM_001109878.2(TBX22):c.456T>C (p.Tyr152=)	TBX22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987387	NM_001109878.2(TBX22):c.458+1G>A	TBX22	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 50315	NM_001109878.2(TBX22):c.459-5T>A	TBX22	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2489248	NM_001109878.2(TBX22):c.494G>A (p.Gly165Glu)	TBX22 (G165E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065117	NM_001109878.2(TBX22):c.539C>T (p.Pro180Leu)	TBX22 (P180L +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked	GLikely pathogenic
Select item 2436990	NM_001109878.2(TBX22):c.548C>T (p.Pro183Leu)	TBX22 (P183L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914622	NM_001109878.2(TBX22):c.549C>G (p.Pro183=)	TBX22	Single nucleotide variant (synonymous variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 368665	NM_001109878.2(TBX22):c.554C>T (p.Ser185Leu)	TBX22 (S185L +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 368666	NM_001109878.2(TBX22):c.559G>A (p.Glu187Lys)	TBX22 (E187K +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked +1 more	GBenign
Select item 3350152	NM_001109878.2(TBX22):c.566G>A (p.Trp189Ter)	TBX22 (W189* +1 more)	Single nucleotide variant (nonsense)	TBX22-related disorder	GUncertain significance
Select item 11335	NM_001109878.2(TBX22):c.584_586dup (p.Ser195_Phe196insCys)	TBX22	Duplication (inframe_insertion)	Cleft palate with ankyloglossia	GPathogenic
Select item 1698919	NM_001109878.2(TBX22):c.592C>T (p.Arg198Cys)	TBX22 (R198C +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 11331	NM_001109878.2(TBX22):c.633+1G>A	TBX22	Single nucleotide variant (splice donor variant)	Cleft palate with ankyloglossia	GPathogenic
Select item 1258166	NM_001109878.2(TBX22):c.633+121T>C	TBX22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 11334	NM_001109878.2(TBX22):c.641T>C (p.Leu214Pro)	TBX22 (L214P +1 more)	Single nucleotide variant (missense variant)	Cleft palate with ankyloglossia	GPathogenic
Select item 11332	NM_001109878.2(TBX22):c.667del (p.Arg223fs)	TBX22 (R103fs +1 more)	Deletion (frameshift variant)	Cleft palate with ankyloglossia	GPathogenic
Select item 3065426	NM_001109878.2(TBX22):c.668G>A (p.Arg223Gln)	TBX22 (R103Q +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked	GLikely pathogenic
Select item 2660978	NM_001109878.2(TBX22):c.697G>A (p.Val233Ile)	TBX22 (V113I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726731	NM_001109878.2(TBX22):c.702C>T (p.Asp234=)	TBX22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337658	NM_001109878.2(TBX22):c.703C>G (p.Leu235Val)	TBX22 (L115V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3324869	NM_001109878.2(TBX22):c.709C>G (p.Gln237Glu)	TBX22 (Q237E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315207	NM_001109878.2(TBX22):c.766T>A (p.Phe256Ile)	TBX22 (F136I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11329	NM_001109878.2(TBX22):c.779C>T (p.Thr260Met)	TBX22 (T260M +1 more)	Single nucleotide variant (missense variant)	Cleft palate with ankyloglossia	GPathogenic
Select item 753761	NM_001109878.2(TBX22):c.780G>A (p.Thr260=)	TBX22	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2571920	NM_001109878.2(TBX22):c.787C>A (p.Gln263Lys)	TBX22 (Q143K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11336	NM_001109878.2(TBX22):c.790A>T (p.Asn264Tyr)	TBX22 (N264Y +1 more)	Single nucleotide variant (missense variant)	Cleft palate with ankyloglossia	GPathogenic
Select item 368667	NM_001109878.2(TBX22):c.798+11T>C	TBX22	Single nucleotide variant (intron variant)	Cleft palate with or without ankyloglossia, X-linked	GLikely benign
Select item 914623	NM_001109878.2(TBX22):c.799-13A>G	TBX22	Single nucleotide variant (intron variant)	Cleft palate with or without ankyloglossia, X-linked	GLikely benign
Select item 729592	NM_001109878.2(TBX22):c.804G>A (p.Thr268=)	TBX22	Single nucleotide variant (synonymous variant)	Cleft palate with or without ankyloglossia, X-linked +1 more	GBenign
Select item 3037496	NM_001109878.2(TBX22):c.834T>A (p.Ala278=)	TBX22	Single nucleotide variant (synonymous variant)	TBX22-related disorder	GLikely benign
Select item 11328	NM_001109878.2(TBX22):c.863+1G>C	TBX22	Single nucleotide variant (splice donor variant)	Cleft palate with ankyloglossia	GPathogenic
Select item 1245139	NM_001109878.2(TBX22):c.863+73del	TBX22	Deletion (intron variant)	not provided	GBenign
Select item 1281111	NM_001109878.2(TBX22):c.863+154G>A	TBX22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257272	NM_001109878.2(TBX22):c.864-102T>C	TBX22	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 914624	NM_001109878.2(TBX22):c.864-11C>T	TBX22	Single nucleotide variant (intron variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 1172877	NM_001109878.2(TBX22):c.868G>A (p.Val290Ile)	TBX22 (V170I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 368668	NM_001109878.2(TBX22):c.883T>C (p.Leu295=)	TBX22	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1050557	NM_001109878.2(TBX22):c.898T>C (p.Trp300Arg)	TBX22 (W180R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450864	NM_001109878.2(TBX22):c.899G>A (p.Trp300Ter)	TBX22 (W300* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3067805	NM_001109878.2(TBX22):c.906_907delinsGC (p.Ser303Pro)	TBX22 (S183P +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 738652	NM_001109878.2(TBX22):c.930C>A (p.Thr310=)	TBX22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723460	NM_001109878.2(TBX22):c.936C>T (p.Gly312=)	TBX22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 368669	NM_001109878.2(TBX22):c.949+12T>G	TBX22	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1295034	NM_001109878.2(TBX22):c.949+57del	TBX22	Deletion (intron variant)	not provided	GBenign
Select item 3174960	NM_001109878.2(TBX22):c.1009T>A (p.Ser337Thr)	TBX22 (S217T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488992	NM_001109878.2(TBX22):c.1088A>G (p.Tyr363Cys)	TBX22 (Y363C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780710	NM_001109878.2(TBX22):c.1090C>T (p.Leu364=)	TBX22	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 912660	NM_001109878.2(TBX22):c.1169C>A (p.Ala390Asp)	TBX22 (A270D +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked	GLikely benign
Select item 742205	NM_001109878.2(TBX22):c.1212C>T (p.Ala404=)	TBX22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 11337	NM_001109878.2(TBX22):c.1252del (p.Val418fs)	TBX22 (V418fs +1 more)	Deletion (frameshift variant)	Cleft palate with or without ankyloglossia, X-linked	GPathogenic
Select item 2319747	NM_001109878.2(TBX22):c.1271G>T (p.Gly424Val)	TBX22 (G424V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174961	NM_001109878.2(TBX22):c.1298A>C (p.Tyr433Ser)	TBX22 (Y313S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3344898	NM_001109878.2(TBX22):c.1332A>T (p.Leu444Phe)	TBX22 (L324F +1 more)	Single nucleotide variant (missense variant)	TBX22-related disorder	GUncertain significance
Select item 752846	NM_001109878.2(TBX22):c.1377C>A (p.Ile459=)	TBX22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 368670	NM_001109878.2(TBX22):c.1412C>T (p.Ser471Phe)	TBX22 (S471F +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked +1 more	GUncertain significance
Select item 755941	NM_001109878.2(TBX22):c.1424A>T (p.Tyr475Phe)	TBX22 (Y355F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2579317	NM_001109878.2(TBX22):c.1444C>A (p.Pro482Thr)	TBX22 (P362T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2382732	NM_001109878.2(TBX22):c.1462G>A (p.Gly488Ser)	TBX22 (G488S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713489	NM_001109878.2(TBX22):c.1488C>T (p.Asp496=)	TBX22	Single nucleotide variant (synonymous variant)	Cleft palate with or without ankyloglossia, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 2572985	NM_001109878.2(TBX22):c.1489G>A (p.Asp497Asn)	TBX22 (D377N +1 more)	Single nucleotide variant (missense variant)	Mendelian syndromes with cleft lip/palate	GUncertain significance
Select item 368671	NM_001109878.2(TBX22):c.1544C>A (p.Ala515Glu)	TBX22 (A515E +1 more)	Single nucleotide variant (missense variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance

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