ClinVar for OMIM (Select 618907) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068518	NM_002655.3(PLAG1):c.545A>T (p.Glu182Val)	LOC126860395, PLAG1 (E100V +1 more)	Single nucleotide variant (missense variant)	Silver-russell syndrome 4	GUncertain significance
Select item 2504817	NM_002655.3(PLAG1):c.589C>T (p.Arg197Ter)	LOC126860395, PLAG1 (R115* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 1687610	NM_002655.3(PLAG1):c.441_489del (p.Ser147fs)	PLAG1, LOC126860395 (S147fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4	GLikely pathogenic
Select item 1325824	NM_002655.3(PLAG1):c.758dup (p.Phe254fs)	LOC126860395, PLAG1 (F172fs +1 more)	Duplication (frameshift variant)	Silver-russell syndrome 4	GUncertain significance
Select item 253204	NM_002655.3(PLAG1):c.439del (p.Ser147fs)	PLAG1, LOC126860395 (S147fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic
Select item 253033	NM_002655.3(PLAG1):c.1363del (p.Gln455fs)	PLAG1 (Q373fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic

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