ClinVar for Gene (Select 114771) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3211835	NM_052891.3(PGLYRP3):c.967C>G (p.Leu323Val)	PGLYRP3 (L323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211834	NM_052891.3(PGLYRP3):c.86G>C (p.Trp29Ser)	PGLYRP3 (W29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211833	NM_052891.3(PGLYRP3):c.857C>T (p.Pro286Leu)	PGLYRP3 (P286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211832	NM_052891.3(PGLYRP3):c.740G>A (p.Gly247Asp)	PGLYRP3 (G247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211831	NM_052891.3(PGLYRP3):c.719T>C (p.Ile240Thr)	PGLYRP3 (I240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211829	NM_052891.3(PGLYRP3):c.663G>C (p.Gln221His)	PGLYRP3 (Q221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211828	NM_052891.3(PGLYRP3):c.427T>C (p.Tyr143His)	PGLYRP3 (Y143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211827	NM_052891.3(PGLYRP3):c.34A>C (p.Ile12Leu)	PGLYRP3 (I12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211826	NM_052891.3(PGLYRP3):c.214T>C (p.Ser72Pro)	PGLYRP3 (S72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211825	NM_052891.3(PGLYRP3):c.206G>C (p.Gly69Ala)	PGLYRP3 (G69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211824	NM_052891.3(PGLYRP3):c.191G>A (p.Ser64Asn)	PGLYRP3 (S64N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2534133	NM_052891.3(PGLYRP3):c.347T>C (p.Leu116Pro)	PGLYRP3 (L116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525535	NM_052891.3(PGLYRP3):c.233T>C (p.Ile78Thr)	PGLYRP3 (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521423	NM_052891.3(PGLYRP3):c.89G>A (p.Gly30Glu)	PGLYRP3 (G30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517337	NM_052891.3(PGLYRP3):c.704G>A (p.Arg235Gln)	PGLYRP3 (R235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516542	NM_052891.3(PGLYRP3):c.195G>C (p.Gln65His)	PGLYRP3 (Q65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511302	NM_052891.3(PGLYRP3):c.50C>T (p.Ala17Val)	PGLYRP3 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508611	NM_052891.3(PGLYRP3):c.457A>G (p.Arg153Gly)	PGLYRP3 (R153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406456	NM_052891.3(PGLYRP3):c.356C>A (p.Ala119Asp)	PGLYRP3 (A119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388926	NM_052891.3(PGLYRP3):c.838T>G (p.Tyr280Asp)	PGLYRP3 (Y280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343643	NM_052891.3(PGLYRP3):c.250G>C (p.Ala84Pro)	PGLYRP3 (A84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323702	NM_052891.3(PGLYRP3):c.551G>A (p.Arg184Gln)	PGLYRP3 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253251	NM_052891.3(PGLYRP3):c.746A>T (p.Asp249Val)	PGLYRP3 (D249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228864	NM_052891.3(PGLYRP3):c.731T>A (p.Phe244Tyr)	PGLYRP3 (F244Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222368	NM_052891.3(PGLYRP3):c.923C>T (p.Thr308Ile)	PGLYRP3 (T308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220947	NM_052891.3(PGLYRP3):c.997A>C (p.Ile333Leu)	PGLYRP3 (I333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809281	GRCh37/hg19 1q21.3(chr1:152648864-153286218)x3	C1orf68, IVL +27 more	Copy number gain	not provided	GUncertain significance
Select item 1696538	NM_052891.3(PGLYRP3):c.258-173T>C	PGLYRP3	Single nucleotide variant (intron variant)	PGLYRP3-associated inflamatory bowel disease	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +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 775605	NM_052891.3(PGLYRP3):c.798T>C (p.Tyr266=)	PGLYRP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767703	NM_052891.3(PGLYRP3):c.202C>T (p.Arg68Trp)	PGLYRP3 (R68W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727525	NM_052891.3(PGLYRP3):c.135C>G (p.Ala45=)	PGLYRP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726936	NM_052891.3(PGLYRP3):c.55+9T>C	PGLYRP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719342	NM_052891.3(PGLYRP3):c.878C>T (p.Ala293Val)	PGLYRP3 (A293V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714802	NM_052891.3(PGLYRP3):c.507A>G (p.Gln169=)	PGLYRP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +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

ClinVar

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Links from Gene

Items: 47