PLPPR5-AS1[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 148454	GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1	DPYD, DPYD-AS1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 150363	GRCh38/hg38 1p21.3(chr1:98477261-99235028)x1	LOC126805804, LOC129931000 +7 more	Copy number loss	See cases	GUncertain significance
Select item 153253	GRCh38/hg38 1p21.3(chr1:98603715-99120960)x1	LOC129931000, LOC129931001 +6 more	Copy number loss	See cases	GUncertain significance
Select item 3421036	NM_001037317.2(PLPPR5):c.235G>C (p.Val79Leu)	PLPPR5, PLPPR5-AS1 (V79L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2385620	NM_001037317.2(PLPPR5):c.217G>T (p.Ala73Ser)	PLPPR5, PLPPR5-AS1 (A73S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531865	NM_001037317.2(PLPPR5):c.202C>T (p.Leu68Phe)	PLPPR5, PLPPR5-AS1 (L68F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2407521	NM_001037317.2(PLPPR5):c.14C>T (p.Pro5Leu)	PLPPR5, PLPPR5-AS1 (P5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147504	GRCh38/hg38 1p21.3-21.2(chr1:99110744-99679244)x3	LINC01708, LOC122094881 +8 more	Copy number gain	See cases	GUncertain significance