Related gene-specific medical variations for Gene (Select 54872) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434839	NM_001127178.3(PIGG):c.1676C>T (p.Ala559Val)	PIGG (A193V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434838	NM_001127178.3(PIGG):c.119A>C (p.His40Pro)	PIGG (H40P)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2432619	NM_001127178.3(PIGG):c.1363C>T (p.Gln455Ter)	PIGG (Q112* +7 more)	Single nucleotide variant (nonsense +4 more)	not provided	GLikely pathogenic
Select item 2432611	NM_001127178.3(PIGG):c.562del (p.Tyr188fs)	PIGG (Y188fs +2 more)	Deletion (frameshift variant +3 more)	not provided	GLikely pathogenic
Select item 987362	NM_001127178.3(PIGG):c.1996_2005del (p.Arg666fs)	PIGG (R155fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 987207	NM_001127178.3(PIGG):c.2736-1G>T	PIGG	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 598776	NM_001127178.3(PIGG):c.2066C>G (p.Thr689Ser)	PIGG (T689S +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53	GUncertain significance

ClinVar