PGLYRP4[gene] - ClinVar

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Items: 39

	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 147363	GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3	LELP1, LOC101928009 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2282782	NM_020393.4(PGLYRP4):c.1083G>C (p.Leu361Phe)	PGLYRP4 (L361F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388448	NM_020393.4(PGLYRP4):c.1075C>A (p.Gln359Lys)	PGLYRP4 (Q359K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306000	NM_020393.4(PGLYRP4):c.1069C>A (p.Pro357Thr)	PGLYRP4 (P357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211839	NM_020393.4(PGLYRP4):c.1063T>G (p.Leu355Val)	PGLYRP4 (L355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305999	NM_020393.4(PGLYRP4):c.1061C>T (p.Thr354Ile)	PGLYRP4 (T354I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360507	NM_020393.4(PGLYRP4):c.1058G>A (p.Arg353Gln)	PGLYRP4 (R353Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211838	NM_020393.4(PGLYRP4):c.1039G>A (p.Gly347Ser)	PGLYRP4 (G347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211837	NM_020393.4(PGLYRP4):c.1001T>C (p.Met334Thr)	PGLYRP4 (M334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592343	NM_020393.4(PGLYRP4):c.967C>A (p.Leu323Ile)	PGLYRP4 (L323I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601541	NM_020393.4(PGLYRP4):c.847G>A (p.Ala283Thr)	PGLYRP4 (A283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353174	NM_020393.4(PGLYRP4):c.769C>T (p.Arg257Trp)	PGLYRP4 (R257W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211843	NM_020393.4(PGLYRP4):c.757C>A (p.Arg253Ser)	PGLYRP4 (R253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590252	NM_020393.4(PGLYRP4):c.757C>T (p.Arg253Cys)	PGLYRP4 (R253C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211842	NM_020393.4(PGLYRP4):c.698C>T (p.Ala233Val)	PGLYRP4 (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455611	NM_020393.4(PGLYRP4):c.615C>A (p.Ser205Arg)	PGLYRP4 (S205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379522	NM_020393.4(PGLYRP4):c.613A>T (p.Ser205Cys)	PGLYRP4 (S205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556183	NM_020393.4(PGLYRP4):c.544C>G (p.Leu182Val)	PGLYRP4 (L182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329827	NM_020393.4(PGLYRP4):c.539G>A (p.Gly180Asp)	PGLYRP4 (G180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231731	NM_020393.4(PGLYRP4):c.461G>A (p.Gly154Asp)	PGLYRP4 (G154D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262217	NM_020393.4(PGLYRP4):c.432C>A (p.Asn144Lys)	PGLYRP4 (N144K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211841	NM_020393.4(PGLYRP4):c.330C>G (p.Asn110Lys)	LOC129931472, PGLYRP4 (N110K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379521	NM_020393.4(PGLYRP4):c.299G>A (p.Arg100Gln)	LOC129931472, PGLYRP4 (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211840	NM_020393.4(PGLYRP4):c.173G>A (p.Arg58His)	LOC129931472, PGLYRP4 (R58H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610770	NM_020393.4(PGLYRP4):c.164C>T (p.Thr55Met)	LOC129931472, PGLYRP4 (T55M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3306001	NM_020393.4(PGLYRP4):c.88T>C (p.Ser30Pro)	PGLYRP4 (S30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258974	NM_020393.4(PGLYRP4):c.56C>T (p.Ser19Phe)	PGLYRP4 (S19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685827	GRCh37/hg19 1q21.3(chr1:153097950-153481118)x3	LELP1, LORICRIN +9 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979294	GRCh37/hg19 1q21.3(chr1:153007105-153463223)x3	SPRR2E, S100A7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 814129	GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3	SPRR2F, SPRR2G +29 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
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: 39