Related gene-specific medical variations for Gene (Select 9496) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243200	NC_000017.10:g.(?_59543160)_(59545038_?)del	TBX4	Deletion	not provided	GPathogenic
Select item 3243199	NC_000017.10:g.(?_59544851)_(59545038_?)del	TBX4	Deletion	not provided	GPathogenic
Select item 3243197	NC_000017.10:g.(?_59543160)_(59543319_?)del	TBX4	Deletion	not provided	GUncertain significance
Select item 1992375	NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu)	TBX4 (K91E)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	GLikely pathogenic

Format

Sort by

Choose Destination