PIN1[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 2318736	NM_006221.4(PIN1):c.22C>T (p.Pro8Ser)	PIN1 (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357943	NM_006221.4(PIN1):c.23C>T (p.Pro8Leu)	PIN1 (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213096	NM_006221.4(PIN1):c.24G>T (p.Pro8=)	PIN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2310600	NM_006221.4(PIN1):c.114C>A (p.Ser38Arg)	PIN1 (S38R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213095	NM_006221.4(PIN1):c.115G>A (p.Gly39Ser)	PIN1 (G39S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336961	NM_006221.4(PIN1):c.157G>T (p.Ala53Ser)	PIN1 (A53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556030	NM_006221.4(PIN1):c.419C>T (p.Ala140Val)	PIN1 (A140V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance