Related gene-specific medical variations for Gene (Select 5324) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3214280	NM_002655.3(PLAG1):c.894G>T (p.Met298Ile)	LOC126860395, PLAG1 (M298I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3214279	NM_002655.3(PLAG1):c.602G>A (p.Arg201Gln)	LOC126860395, PLAG1 (R201Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3045787	NM_002655.3(PLAG1):c.278A>T (p.Lys93Met)	LOC126860395, PLAG1 (K11M +1 more)	Single nucleotide variant (missense variant)	PLAG1-related condition	GLikely benign
Select item 2637241	NM_002655.3(PLAG1):c.1075dup (p.Tyr359fs)	LOC126860395, PLAG1 (Y277fs +1 more)	Duplication (frameshift variant)	PLAG1-related condition	GLikely pathogenic
Select item 2590086	NM_002655.3(PLAG1):c.370G>A (p.Glu124Lys)	LOC126860395, PLAG1 (E124K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574425	NM_002655.3(PLAG1):c.689G>A (p.Arg230Gln)	LOC126860395, PLAG1 (R148Q +1 more)	Single nucleotide variant (missense variant)	not provided	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	GLikely pathogenic
Select item 2366248	NM_002655.3(PLAG1):c.359C>T (p.Thr120Met)	LOC126860395, PLAG1 (T120M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2340931	NM_002655.3(PLAG1):c.1061G>A (p.Gly354Glu)	LOC126860395, PLAG1 (G272E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300838	NM_002655.3(PLAG1):c.469C>A (p.Gln157Lys)	LOC126860395, PLAG1 (Q157K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236750	NM_002655.3(PLAG1):c.343G>A (p.Asp115Asn)	LOC126860395, PLAG1 (D115N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213219	NM_002655.3(PLAG1):c.902C>T (p.Ser301Leu)	LOC126860395, PLAG1 (S301L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1307742	NM_002655.3(PLAG1):c.785_786del (p.Ile262fs)	LOC126860395, PLAG1 (I180fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 431023	t(8;10)(q12.1;q23.31)	ACTA2, PLAG1	Translocation	Lung adenocarcinoma	GLikely pathogenic
Select item 253204	NM_002655.3(PLAG1):c.439del (p.Ser147fs)	LOC126860395, PLAG1 (S147fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic