"Illumina Laboratory Services, Illumina"[submitter] AND "TCFL5"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 339319	NM_006602.4(TCFL5):c.*924T>G	COL9A3, TCFL5	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance
Select item 339321	NM_006602.4(TCFL5):c.*834G>A	TCFL5, COL9A3	Single nucleotide variant (3 prime UTR variant)	Multiple Epiphyseal Dysplasia, Dominant	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic

Format

Sort by

Choose Destination