ClinVar for MedGen (Select 375520) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 913764	NM_001109878.2(TBX22):c.*293T>C	TBX22	Single nucleotide variant (3 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
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 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 780710	NM_001109878.2(TBX22):c.1090C>T (p.Leu364=)	TBX22	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 368676	NM_001109878.2(TBX22):c.*533A>T	TBX22	Single nucleotide variant (3 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 368675	NM_001109878.2(TBX22):c.*347T>C	TBX22	Single nucleotide variant (3 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked +1 more	GBenign
Select item 368674	NM_001109878.2(TBX22):c.*97C>A	TBX22	Single nucleotide variant (3 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 368673	NM_001109878.2(TBX22):c.*57A>T	TBX22	Single nucleotide variant (3 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked	GUncertain significance
Select item 368672	NM_001109878.2(TBX22):c.*6C>A	TBX22	Single nucleotide variant (3 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked	GBenign
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
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 368669	NM_001109878.2(TBX22):c.949+12T>G	TBX22	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 368660	NM_001109878.2(TBX22):c.-103G>A	LOC109286564, TBX22	Single nucleotide variant (5 prime UTR variant)	Cleft palate with or without ankyloglossia, X-linked	GBenign
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 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

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Items: 38