PPIL1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 155452	GRCh38/hg38 6p21.2(chr6:36822889-37159699)x1	C6orf89, CPNE5 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 1344821	NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln)	PPIL1 (R131Q)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 930026	NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)	PPIL1 (T127A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2500349	NM_016059.5(PPIL1):c.350C>A (p.Ala117Asp)	PPIL1 (A117D)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 14	GUncertain significance
Select item 2500348	NM_016059.5(PPIL1):c.349G>A (p.Ala117Thr)	PPIL1 (A117T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 14	GUncertain significance
Select item 1344823	NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys)	PPIL1 (G109C)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 1344822	NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup)	PPIL1	Duplication (inframe_insertion)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 1065400	NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala)	PPIL1 (T107A)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
Select item 1701722	NM_016059.5(PPIL1):c.316G>A (p.Asp106Asn)	PPIL1 (D106N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 14	GUncertain significance
Select item 1065399	NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr)	PPIL1 (A99T)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
Select item 2656520	NM_016059.5(PPIL1):c.281-6C>T	PPIL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1065403	NM_016059.5(PPIL1):c.280+1G>A	PPIL1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2499595	NM_016059.5(PPIL1):c.277A>C (p.Thr93Pro)	PPIL1 (T93P)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, type 14	GUncertain significance
Select item 1344824	NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser)	PPIL1 (F82S)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 1344820	NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys)	PPIL1 (Y78C)	Single nucleotide variant (missense variant)	Congenital pontocerebellar hypoplasia	GLikely pathogenic
Select item 150550	GRCh38/hg38 6p21.2(chr6:36858748-37062057)x3	C6orf89, FGD2 +14 more	Copy number gain	See cases	GLikely benign
Select item 2656521	NM_016059.5(PPIL1):c.162C>T (p.His54=)	PPIL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 929944	NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter)	PPIL1 (R45*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3024893	NM_016059.5(PPIL1):c.15C>A (p.Pro5=)	C6orf89, PPIL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2458834	NM_016059.5(PPIL1):c.10A>G (p.Ile4Val)	C6orf89, PPIL1 (I4V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 687456	GRCh37/hg19 6p21.2(chr6:36776798-37106051)x3	C6orf89, CPNE5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 30