PWP1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3311758	NM_007062.3(PWP1):c.199C>T (p.Arg67Cys)	PWP1 (R5C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149904	NM_007062.3(PWP1):c.253A>G (p.Arg85Gly)	PWP1 (R23G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311760	NM_007062.3(PWP1):c.272A>G (p.Glu91Gly)	PWP1 (E29G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322325	NM_007062.3(PWP1):c.379G>T (p.Asp127Tyr)	PWP1 (D127Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221945	NM_007062.3(PWP1):c.476A>G (p.Gln159Arg)	PWP1 (Q97R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286153	NM_007062.3(PWP1):c.571G>A (p.Val191Met)	PWP1 (V191M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273204	NM_007062.3(PWP1):c.741G>C (p.Lys247Asn)	PWP1 (K185N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545758	NM_007062.3(PWP1):c.824C>T (p.Ala275Val)	PWP1 (A63V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487619	NM_007062.3(PWP1):c.835A>G (p.Asn279Asp)	PWP1 (N217D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311759	NM_007062.3(PWP1):c.978G>T (p.Leu326Phe)	PWP1 (L114F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310191	NM_007062.3(PWP1):c.1006C>T (p.His336Tyr)	PWP1 (H274Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149898	NM_007062.3(PWP1):c.1019G>A (p.Arg340Gln)	PWP1 (R340Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149899	NM_007062.3(PWP1):c.1060T>C (p.Ser354Pro)	PWP1 (S142P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282158	NM_007062.3(PWP1):c.1079C>T (p.Ala360Val)	PWP1 (A298V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249349	NM_007062.3(PWP1):c.1177C>G (p.Leu393Val)	PWP1 (L331V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149900	NM_007062.3(PWP1):c.1319C>T (p.Pro440Leu)	PWP1 (P378L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149901	NM_007062.3(PWP1):c.1391C>T (p.Ser464Phe)	PWP1 (S402F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149903	NM_007062.3(PWP1):c.1487A>G (p.Asp496Gly)	PWP1 (D284G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386350	NM_007062.3(PWP1):c.1492C>T (p.Pro498Ser)	PWP1 (P436S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 30