"GeneDx"[submitter] AND "TBX22"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
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 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 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 1305015	NM_001109878.2(TBX22):c.176-11G>T	TBX22	Single nucleotide variant (intron variant)	not provided	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 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 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 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 1258166	NM_001109878.2(TBX22):c.633+121T>C	TBX22	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 368668	NM_001109878.2(TBX22):c.883T>C (p.Leu295=)	TBX22	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 42