PLPPR1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 3307836	NM_207299.2(PLPPR1):c.109T>G (p.Cys37Gly)	PLPPR1 (C37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307835	NM_207299.2(PLPPR1):c.110G>A (p.Cys37Tyr)	PLPPR1 (C37Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620168	NM_207299.2(PLPPR1):c.184A>G (p.Thr62Ala)	PLPPR1 (T62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359382	NM_207299.2(PLPPR1):c.283A>G (p.Ile95Val)	PLPPR1 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215407	NM_207299.2(PLPPR1):c.373A>G (p.Ile125Val)	PLPPR1 (I125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219859	NM_207299.2(PLPPR1):c.512C>T (p.Ala171Val)	PLPPR1 (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533569	NM_207299.2(PLPPR1):c.559G>A (p.Glu187Lys)	PLPPR1 (E187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551542	NM_207299.2(PLPPR1):c.635C>T (p.Thr212Met)	PLPPR1 (T212M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406967	NM_207299.2(PLPPR1):c.662C>T (p.Thr221Met)	PLPPR1 (T221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395863	NM_207299.2(PLPPR1):c.751C>T (p.Arg251Trp)	PLPPR1 (R251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215408	NM_207299.2(PLPPR1):c.865C>T (p.Pro289Ser)	PLPPR1 (P289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307373	NM_207299.2(PLPPR1):c.879T>A (p.Asp293Glu)	PLPPR1 (D293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401658	NM_207299.2(PLPPR1):c.956C>T (p.Ala319Val)	PLPPR1 (A319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223775	NM_207299.2(PLPPR1):c.961A>G (p.Met321Val)	PLPPR1 (M321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215409	NM_207299.2(PLPPR1):c.964A>G (p.Thr322Ala)	PLPPR1 (T322A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32