ClinVar for Gene (Select 8612) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215381	NM_003712.4(PLPP2):c.847T>G (p.Tyr283Asp)	PLPP2 (Y227D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215379	NM_003712.4(PLPP2):c.475G>A (p.Glu159Lys)	PLPP2 (E159K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215378	NM_003712.4(PLPP2):c.357G>A (p.Met119Ile)	PLPP2 (M63I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215377	NM_003712.4(PLPP2):c.158C>T (p.Thr53Ile)	PLPP2 (T74I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215376	NM_003712.4(PLPP2):c.149A>T (p.Asp50Val)	PLPP2 (D50V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062384	GRCh37/hg19 19p13.3(chr19:260911-1210337)x1	ABCA7, ARHGAP45 +37 more	Copy number loss	not specified	GPathogenic
Select item 3051983	NM_003712.4(PLPP2):c.721T>C (p.Cys241Arg)	PLPP2 (C185R +2 more)	Single nucleotide variant (missense variant)	PLPP2-related disorder	GLikely benign
Select item 3051421	NM_003712.4(PLPP2):c.850C>T (p.Pro284Ser)	PLPP2 (P228S +2 more)	Single nucleotide variant (missense variant)	PLPP2-related disorder	GLikely benign
Select item 3024971	NM_003712.4(PLPP2):c.253C>T (p.Arg85Cys)	PLPP2 (R106C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685628	GRCh37/hg19 19p13.3(chr19:260912-548433)x1	C2CD4C, CDC34 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2685627	GRCh37/hg19 19p13.3(chr19:260912-713630)x1	BSG, C2CD4C +16 more	Copy number loss	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2599563	NM_003712.4(PLPP2):c.52+259C>T	LOC108281123, PLPP2 (P14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552990	NM_003712.4(PLPP2):c.359T>C (p.Ile120Thr)	PLPP2 (I120T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532662	NM_003712.4(PLPP2):c.547G>A (p.Val183Met)	PLPP2 (V127M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528413	NM_003712.4(PLPP2):c.831C>A (p.Asp277Glu)	PLPP2 (D298E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528290	NM_003712.4(PLPP2):c.52+246C>T	LOC108281123, PLPP2 (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520574	NM_003712.4(PLPP2):c.143G>A (p.Arg48His)	PLPP2 (R48H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484132	NM_003712.4(PLPP2):c.410G>C (p.Arg137Pro)	PLPP2 (R137P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456289	NM_003712.4(PLPP2):c.92C>T (p.Pro31Leu)	PLPP2 (P52L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396161	NM_003712.4(PLPP2):c.445G>A (p.Val149Met)	PLPP2 (V149M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392519	NM_003712.4(PLPP2):c.142C>T (p.Arg48Cys)	PLPP2 (R69C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387699	NM_003712.4(PLPP2):c.703G>C (p.Val235Leu)	PLPP2 (V235L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359548	NM_003712.4(PLPP2):c.577C>T (p.Arg193Trp)	PLPP2 (R193W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323886	NM_003712.4(PLPP2):c.77C>T (p.Thr26Met)	PLPP2 (T26M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317983	NM_003712.4(PLPP2):c.823G>A (p.Glu275Lys)	PLPP2 (E219K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306804	NM_003712.4(PLPP2):c.661C>T (p.His221Tyr)	PLPP2 (H242Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304924	NM_003712.4(PLPP2):c.97A>G (p.Lys33Glu)	PLPP2 (K33E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283896	NM_003712.4(PLPP2):c.670G>A (p.Asp224Asn)	PLPP2 (D245N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283368	NM_003712.4(PLPP2):c.692A>T (p.Gln231Leu)	PLPP2 (Q252L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267247	NM_003712.4(PLPP2):c.526A>G (p.Met176Val)	PLPP2 (M120V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217409	NM_003712.4(PLPP2):c.169A>G (p.Met57Val)	PLPP2 (M78V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208923	NM_003712.4(PLPP2):c.214G>A (p.Gly72Arg)	PLPP2 (G16R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809016	GRCh37/hg19 19p13.3(chr19:260912-538303)x3	C2CD4C, CDC34 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1807907	GRCh37/hg19 19p13.3(chr19:260912-508202)x1	C2CD4C, MADCAM1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1703549	GRCh37/hg19 19p13.3(chr19:260911-1319319)	ABCA7, ARHGAP45 +43 more	Copy number loss	Peutz-Jeghers syndrome	GPathogenic
Select item 1340390	GRCh37/hg19 19p13.3(chr19:260912-379917)x1	MIER2, PLPP2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 444854	GRCh37/hg19 19p13.3(chr19:266117-1094614)x3	ABCA7, ARHGAP45 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 395444	GRCh37/hg19 19p13.3(chr19:277373-291274)x3	PLPP2	Copy number gain	See cases	GBenign
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 252977	GRCh37/hg19 19p13.3(chr19:260912-1163934)x3	ABCA7, ARHGAP45 +36 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 148014	GRCh38/hg38 19p13.3(chr19:259395-307776)x3	LOC108281123, LOC129391009 +4 more	Copy number gain	See cases	GUncertain significance
Select item 146863	GRCh38/hg38 19p13.3(chr19:260928-307812)x3	LOC108281123, LOC129391009 +4 more	Copy number gain	See cases	GBenign
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 57441	GRCh38/hg38 19p13.3(chr19:259395-819679)x3	BSG, BSG-AS1 +74 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

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Links from Gene

Items: 59