TBX5-AS1[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 307317	NM_000192.3(TBX5):c.-449G>C	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GBenign
Select item 307318	NM_000192.3(TBX5):c.-481T>C	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 881338	NM_000192.3(TBX5):c.-487G>A	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 881339	NM_000192.3(TBX5):c.-503C>T	TBX5, TBX5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Holt-Oram syndrome	GUncertain significance
Select item 307319	NM_000192.3(TBX5):c.-545C>T	TBX5-AS1, TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307320	NM_000192.3(TBX5):c.-586C>G	TBX5, TBX5-AS1	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307321	NM_000192.3(TBX5):c.-637G>A	TBX5, TBX5-AS1	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GUncertain significance
Select item 307322	NM_000192.3(TBX5):c.-648C>G	TBX5-AS1, TBX5	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign
Select item 307323	NM_000192.3(TBX5):c.-664G>A	TBX5, TBX5-AS1	Single nucleotide variant (5 prime UTR variant)	Holt-Oram syndrome	GBenign