"GeneDx"[submitter] AND "PLAG1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 1706762	NM_002655.3(PLAG1):c.1457T>G (p.Leu486Ter)	PLAG1 (L404* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1345016	NM_002655.3(PLAG1):c.1372C>A (p.Pro458Thr)	PLAG1 (P376T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1309069	NM_002655.3(PLAG1):c.1367dup (p.Gln459fs)	PLAG1 (Q377fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3366170	NM_002655.3(PLAG1):c.1025C>T (p.Ala342Val)	LOC126860395, PLAG1 (A260V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252185	NM_002655.3(PLAG1):c.802_832del (p.Pro268fs)	LOC126860395, PLAG1 (P186fs +1 more)	Deletion (frameshift variant)	not provided	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 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 2430393	NM_002655.3(PLAG1):c.68G>A (p.Arg23His)	PLAG1 (R23H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253344	GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1	TGS1, PENK +8 more	Copy number loss	See cases	GLikely pathogenic