"GeneDx"[submitter] AND "TBX15"[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 1297885	NM_001330677.2(TBX15):c.*126dup	TBX15	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1253783	NM_001330677.2(TBX15):c.125_126dup	TBX15	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1251229	NM_001330677.2(TBX15):c.124_126del	TBX15	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1243200	NM_001330677.2(TBX15):c.*126del	TBX15	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1214267	NM_001330677.2(TBX15):c.123_126del	TBX15	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1208793	NM_001330677.2(TBX15):c.*96C>T	TBX15	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1221451	NM_001330677.2(TBX15):c.1710C>T (p.Ser570=)	TBX15	Single nucleotide variant (synonymous variant)	Pelviscapular dysplasia +1 more	GBenign
Select item 594474	NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg)	TBX15 (M460R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 767693	NM_001330677.2(TBX15):c.1477C>G (p.Pro493Ala)	TBX15 (P387A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1434092	NM_001330677.2(TBX15):c.1150G>A (p.Val384Met)	TBX15 (V384M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1258615	NM_001330677.2(TBX15):c.1025-37G>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256913	NM_001330677.2(TBX15):c.1025-176A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287728	NM_001330677.2(TBX15):c.1025-190G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286916	NM_001330677.2(TBX15):c.1025-217TG[11]	TBX15	Microsatellite (intron variant)	not provided	GBenign
Select item 1279793	NM_001330677.2(TBX15):c.1025-217TG[12]	TBX15	Microsatellite (intron variant)	not provided	GBenign
Select item 1202970	NM_001330677.2(TBX15):c.1025-199T>A	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179436	NM_001330677.2(TBX15):c.1025-208G>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201251	NM_001330677.2(TBX15):c.1025-225T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195050	NM_001330677.2(TBX15):c.1024+230A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297900	NM_001330677.2(TBX15):c.1024+226C>T	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198410	NM_001330677.2(TBX15):c.1024+199T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261329	NM_001330677.2(TBX15):c.927-249G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241697	NM_001330677.2(TBX15):c.927-277G>T	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239800	NM_001330677.2(TBX15):c.926+149G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215973	NM_001330677.2(TBX15):c.862-138A>T	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217654	NM_001330677.2(TBX15):c.862-143C>T	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282872	NM_001330677.2(TBX15):c.861+266T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600982	NM_001330677.2(TBX15):c.861+14C>G	TBX15	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 593097	NM_001330677.2(TBX15):c.837A>G (p.Thr279=)	TBX15	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1494914	NM_001330677.2(TBX15):c.778C>A (p.Pro260Thr)	TBX15 (P260T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1263403	NM_001330677.2(TBX15):c.694-49T>C	TBX15	Single nucleotide variant (intron variant)	Pelviscapular dysplasia +1 more	GBenign
Select item 1221332	NM_001330677.2(TBX15):c.694-148C>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246189	NM_001330677.2(TBX15):c.694-213T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235503	NM_001330677.2(TBX15):c.694-297G>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275127	NM_001330677.2(TBX15):c.693+276C>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213153	NM_001330677.2(TBX15):c.693+264G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201688	NM_001330677.2(TBX15):c.693+146T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289100	NM_001330677.2(TBX15):c.693+142G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223076	NM_001330677.2(TBX15):c.521+272A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783944	NM_001330677.2(TBX15):c.519C>T (p.Tyr173=)	TBX15	Single nucleotide variant (synonymous variant)	Pelviscapular dysplasia +1 more	GBenign
Select item 1240908	NM_001330677.2(TBX15):c.466C>A (p.His156Asn)	TBX15 (H156N +1 more)	Single nucleotide variant (missense variant)	Pelviscapular dysplasia +1 more	GBenign
Select item 1221380	NM_001330677.2(TBX15):c.420-291CA[15]	TBX15	Microsatellite (intron variant)	not provided	GBenign
Select item 1202139	NM_001330677.2(TBX15):c.420-291CA[18]	TBX15	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1286513	NM_001330677.2(TBX15):c.420-291CA[13]	TBX15	Microsatellite (intron variant)	not provided	GBenign
Select item 1277875	NM_001330677.2(TBX15):c.420-291CA[11]	TBX15	Microsatellite (intron variant)	not provided	GBenign
Select item 1226421	NM_001330677.2(TBX15):c.420-303A>G	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257503	NM_001330677.2(TBX15):c.420-345G>A	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200992	NM_001330677.2(TBX15):c.419+270T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253278	NM_001330677.2(TBX15):c.419+266T>C	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273948	NM_001330677.2(TBX15):c.206-317C>T	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268658	NM_001330677.2(TBX15):c.206-335C>T	TBX15	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 53