Related gene-specific medical variations for Gene (Select 10484) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435786	NM_006364.4(SEC23A):c.440T>C (p.Leu147Pro)	SEC23A (L147P)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1808661	GRCh37/hg19 14q21.1(chr14:39227600-39505879)x3	SEC23A	Copy number gain	not provided	GUncertain significance
Select item 931175	NM_006364.4(SEC23A):c.1227+2T>G	SEC23A	Single nucleotide variant (splice donor variant)	Craniolenticulosutural dysplasia	GLikely pathogenic

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