Related gene-specific medical variations for Gene (Select 50945) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3392238	GRCh37/hg19 Xq21.1(chrX:79263665-79517260)x3	TBX22	Copy number gain	not provided	GUncertain significance
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 3062568	GRCh37/hg19 Xq21.1(chrX:79227135-79373506)	TBX22	Copy number gain	not specified	GUncertain significance
Select item 3062493	GRCh37/hg19 Xq21.1(chrX:78814785-79525904)	TBX22	Copy number gain	not specified	GUncertain significance
Select item 2685752	GRCh37/hg19 Xq21.1(chrX:79261160-79517260)x2	TBX22	Copy number gain	not provided	GUncertain significance
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 1526823	GRCh37/hg19 Xq21.1(chrX:79227135-79371735)	TBX22	Copy number gain	not specified	GUncertain significance
Select item 987387	NM_001109878.2(TBX22):c.458+1G>A	TBX22	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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