ClinVar for Gene (Select 54886) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3215409	NM_207299.2(PLPPR1):c.964A>G (p.Thr322Ala)	PLPPR1 (T322A)	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 3215407	NM_207299.2(PLPPR1):c.373A>G (p.Ile125Val)	PLPPR1 (I125V)	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 2551542	NM_207299.2(PLPPR1):c.635C>T (p.Thr212Met)	PLPPR1 (T212M)	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 2406967	NM_207299.2(PLPPR1):c.662C>T (p.Thr221Met)	PLPPR1 (T221M)	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 2395863	NM_207299.2(PLPPR1):c.751C>T (p.Arg251Trp)	PLPPR1 (R251W)	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 2307373	NM_207299.2(PLPPR1):c.879T>A (p.Asp293Glu)	PLPPR1 (D293E)	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 2219859	NM_207299.2(PLPPR1):c.512C>T (p.Ala171Val)	PLPPR1 (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 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 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 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	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 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	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 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 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 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	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 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32