PPM1L[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 2393984	NM_139245.4(PPM1L):c.76C>G (p.Leu26Val)	PPM1L (L26V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456434	NM_139245.4(PPM1L):c.158G>A (p.Arg53Gln)	PPM1L (R53Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292022	NM_139245.4(PPM1L):c.258G>C (p.Trp86Cys)	PPM1L (W86C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324495	NM_139245.4(PPM1L):c.392G>C (p.Gly131Ala)	PPM1L (G131A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 155049	GRCh38/hg38 3q25.33-26.1(chr3:160951779-161441991)x1	B3GALNT1, LINC02067 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2480387	NM_139245.4(PPM1L):c.421T>C (p.Ser141Pro)	PPM1L (S141P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2303173	NM_139245.4(PPM1L):c.493T>C (p.Tyr165His)	PPM1L (Y38H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2324749	NM_139245.4(PPM1L):c.587T>C (p.Leu196Ser)	PPM1L (L69S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350759	NM_139245.4(PPM1L):c.778A>G (p.Ile260Val)	PPM1L (I260V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468182	NM_139245.4(PPM1L):c.1014A>C (p.Arg338Ser)	PPM1L (R159S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062742	GRCh37/hg19 3q26.1(chr3:160702083-161262537)x3	SPTSSB, B3GALNT1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1340697	GRCh37/hg19 3q25.33(chr3:160436688-160510992)x1	PPM1L	Copy number loss	not provided	GLikely benign
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980546	GRCh37/hg19 3q25.33-26.1(chr3:160488346-161322790)x1	SPTSSB, B3GALNT1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 635957	Single allele	IL12A, IQCJ +10 more	Duplication	Growth abnormality	GUncertain significance
Select item 562835	GRCh37/hg19 3q25.33-26.1(chr3:160696866-161262537)x3	NMD3, B3GALNT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562834	GRCh37/hg19 3q25.33(chr3:160632242-160689060)x1	PPM1L	Copy number loss	not provided	GLikely benign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 254009	GRCh37/hg19 3q26.1(chr3:160727290-161223046)x3	NMD3, SPTSSB +3 more	Copy number gain	See cases	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 36