PCP4L1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 786472	NM_001102566.2(PCP4L1):c.64+9G>T	PCP4L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2359422	NM_001102566.2(PCP4L1):c.89C>T (p.Ala30Val)	PCP4L1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347438	NM_001102566.2(PCP4L1):c.169C>T (p.Arg57Trp)	PCP4L1 (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210425	NM_001102566.2(PCP4L1):c.170G>A (p.Arg57Gln)	PCP4L1 (R57Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773286	NM_001102566.2(PCP4L1):c.192G>A (p.Lys64=)	PCP4L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3062369	GRCh37/hg19 1q23.3(chr1:161224742-161415981)x3	CFAP126, MPZ +2 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808470	GRCh37/hg19 1q23.3(chr1:161207985-161437998)x3	CFAP126, MPZ +3 more	Copy number gain	not provided	GUncertain significance
Select item 1710509	GRCh37/hg19 1q23.3(chr1:161216755-161409359)x3	CFAP126, MPZ +2 more	Copy number gain	not provided	GLikely pathogenic
Select item 1706512	GRCh37/hg19 1q23.3(chr1:161224742-161429290)x3	CFAP126, MPZ +2 more	Copy number gain	See cases	GPathogenic
Select item 1527337	GRCh37/hg19 1q23.3(chr1:161207984-161404272)	CFAP126, MPZ +3 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	LY9, MNDA +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814134	GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3	ADAMTS4, APOA2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 689299	GRCh37/hg19 1q23.3(chr1:161213062-161437757)x3	CFAP126, MPZ +2 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 687408	GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3	ADAMTS4, APOA2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 565191	GRCh37/hg19 1q23.3(chr1:161224742-161414959)x3	CFAP126, MPZ +2 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 30