Related gene-specific medical variations for Gene (Select 11231) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382138	NM_007214.5(SEC63):c.599_600del (p.Phe200fs)	SEC63 (F200fs)	Deletion (frameshift variant)	Polycystic liver disease 2	GLikely pathogenic
Select item 3067975	NM_007214.5(SEC63):c.1936-9dup	SEC63	Duplication (intron variant)	Polycystic liver disease 2	GUncertain significance
Select item 3065873	NM_007214.5(SEC63):c.44TCT[1] (p.Phe16del)	SEC63 (F16del)	Microsatellite (inframe_deletion)	Polycystic liver disease 2	GUncertain significance
Select item 3064701	NM_007214.5(SEC63):c.1389A>G (p.Thr463=)	SEC63	Single nucleotide variant (synonymous variant)	Polycystic liver disease 2	GUncertain significance
Select item 1325047	NM_007214.5(SEC63):c.1942C>T (p.Gln648Ter)	SEC63 (Q648*)	Single nucleotide variant (nonsense)	Polycystic liver disease 2	GLikely pathogenic
Select item 1048655	NM_007214.5(SEC63):c.1023C>A (p.Cys341Ter)	SEC63 (C341*)	Single nucleotide variant (nonsense)	Polycystic liver disease 2	GPathogenic
Select item 931942	NM_007214.5(SEC63):c.286dup (p.Thr96fs)	SEC63 (T96fs)	Duplication (frameshift variant)	Polycystic liver disease 2	GUncertain significance
Select item 636897	NM_007214.5(SEC63):c.806C>T (p.Thr269Met)	SEC63 (T269M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar