ClinVar for Gene (Select 375033) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305733	NM_001080471.3(PEAR1):c.2782A>T (p.Ile928Phe)	PEAR1 (I864F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305732	NM_001080471.3(PEAR1):c.1594G>A (p.Gly532Ser)	PEAR1 (G532S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305731	NM_001080471.3(PEAR1):c.2788G>C (p.Asp930His)	PEAR1 (D930H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305730	NM_001080471.3(PEAR1):c.335G>A (p.Gly112Asp)	PEAR1 (G112D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305728	NM_001080471.3(PEAR1):c.3073C>G (p.Arg1025Gly)	PEAR1 (R961G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305727	NM_001080471.3(PEAR1):c.109A>G (p.Thr37Ala)	PEAR1 (T37A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305726	NM_001080471.3(PEAR1):c.1731C>G (p.Ser577Arg)	PEAR1 (S513R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305725	NM_001080471.3(PEAR1):c.1799G>C (p.Gly600Ala)	PEAR1 (G536A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305724	NM_001080471.3(PEAR1):c.2341T>C (p.Trp781Arg)	PEAR1 (W781R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305723	NM_001080471.3(PEAR1):c.1792G>A (p.Ala598Thr)	PEAR1 (A534T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305722	NM_001080471.3(PEAR1):c.3101G>A (p.Arg1034His)	PEAR1 (R970H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305721	NM_001080471.3(PEAR1):c.2461A>G (p.Ser821Gly)	PEAR1 (S757G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3211302	NM_001080471.3(PEAR1):c.71G>A (p.Ser24Asn)	PEAR1 (S24N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211301	NM_001080471.3(PEAR1):c.652G>A (p.Val218Met)	PEAR1 (V154M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211300	NM_001080471.3(PEAR1):c.2999C>T (p.Pro1000Leu)	PEAR1 (P936L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211299	NM_001080471.3(PEAR1):c.2864C>G (p.Pro955Arg)	PEAR1 (P955R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211298	NM_001080471.3(PEAR1):c.2683A>G (p.Ser895Gly)	PEAR1 (S831G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211297	NM_001080471.3(PEAR1):c.2653C>T (p.Arg885Cys)	PEAR1 (R821C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211296	NM_001080471.3(PEAR1):c.220A>G (p.Thr74Ala)	PEAR1 (T10A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211295	NM_001080471.3(PEAR1):c.2161G>A (p.Gly721Arg)	PEAR1 (G721R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211294	NM_001080471.3(PEAR1):c.2009G>T (p.Gly670Val)	PEAR1 (G606V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211292	NM_001080471.3(PEAR1):c.190A>G (p.Thr64Ala)	PEAR1 (T64A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211291	NM_001080471.3(PEAR1):c.1879C>T (p.His627Tyr)	PEAR1 (H563Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211290	NM_001080471.3(PEAR1):c.170G>A (p.Arg57Gln)	PEAR1 (R57Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211289	NM_001080471.3(PEAR1):c.1684C>T (p.Arg562Cys)	PEAR1 (R562C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211287	NM_001080471.3(PEAR1):c.1520G>A (p.Gly507Glu)	PEAR1 (G507E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211286	NM_001080471.3(PEAR1):c.1516A>G (p.Thr506Ala)	PEAR1 (T442A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211285	NM_001080471.3(PEAR1):c.1196C>T (p.Thr399Met)	PEAR1 (T335M +1 more)	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 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	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 2639470	NM_001080471.3(PEAR1):c.1215G>A (p.Gln405=)	PEAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593661	NM_001080471.3(PEAR1):c.2815C>T (p.Arg939Trp)	PEAR1 (R875W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591809	NM_001080471.3(PEAR1):c.2953C>G (p.Leu985Val)	PEAR1 (L921V +1 more)	Single nucleotide variant (missense variant)	not specified	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 2530887	NM_001080471.3(PEAR1):c.2552G>A (p.Arg851Gln)	PEAR1 (R787Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524716	NM_001080471.3(PEAR1):c.1498G>A (p.Ala500Thr)	PEAR1 (A436T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523290	NM_001080471.3(PEAR1):c.1514A>G (p.Gln505Arg)	PEAR1 (Q505R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517465	NM_001080471.3(PEAR1):c.1882T>A (p.Ser628Thr)	PEAR1 (S628T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485343	NM_001080471.3(PEAR1):c.1555C>T (p.His519Tyr)	PEAR1 (H455Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476474	NM_001080471.3(PEAR1):c.1940A>C (p.Asp647Ala)	PEAR1 (D583A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476030	NM_001080471.3(PEAR1):c.1799G>A (p.Gly600Glu)	PEAR1 (G536E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456345	NM_001080471.3(PEAR1):c.2551C>T (p.Arg851Trp)	PEAR1 (R851W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455137	NM_001080471.3(PEAR1):c.1502T>C (p.Val501Ala)	PEAR1 (V501A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409176	NM_001080471.3(PEAR1):c.275A>G (p.His92Arg)	PEAR1 (H28R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406845	NM_001080471.3(PEAR1):c.2237C>T (p.Pro746Leu)	PEAR1 (P746L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404448	NM_001080471.3(PEAR1):c.938A>G (p.Gln313Arg)	PEAR1 (Q313R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388673	NM_001080471.3(PEAR1):c.253C>T (p.Arg85Cys)	PEAR1 (R21C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387801	NM_001080471.3(PEAR1):c.2302G>A (p.Val768Met)	PEAR1 (V704M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386478	NM_001080471.3(PEAR1):c.3050G>T (p.Gly1017Val)	PEAR1 (G953V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371369	NM_001080471.3(PEAR1):c.2282T>C (p.Ile761Thr)	PEAR1 (I697T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341900	NM_001080471.3(PEAR1):c.1886T>C (p.Phe629Ser)	PEAR1 (F565S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341185	NM_001080471.3(PEAR1):c.650A>G (p.Asp217Gly)	PEAR1 (D153G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340201	NM_001080471.3(PEAR1):c.1961C>T (p.Pro654Leu)	PEAR1 (P590L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338114	NM_001080471.3(PEAR1):c.1492C>T (p.His498Tyr)	PEAR1 (H498Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333589	NM_001080471.3(PEAR1):c.745A>C (p.Ser249Arg)	PEAR1 (S185R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329560	NM_001080471.3(PEAR1):c.2789A>G (p.Asp930Gly)	PEAR1 (D930G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327624	NM_001080471.3(PEAR1):c.1085C>T (p.Pro362Leu)	PEAR1 (P298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315220	NM_001080471.3(PEAR1):c.1253C>A (p.Ala418Asp)	PEAR1 (A354D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306958	NM_001080471.3(PEAR1):c.2938G>A (p.Glu980Lys)	PEAR1 (E980K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306957	NM_001080471.3(PEAR1):c.1109G>A (p.Ser370Asn)	PEAR1 (S306N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287990	NM_001080471.3(PEAR1):c.1640C>T (p.Pro547Leu)	PEAR1 (P547L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271187	NM_001080471.3(PEAR1):c.8C>T (p.Pro3Leu)	PEAR1 (P3L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2269045	NM_001080471.3(PEAR1):c.1421G>C (p.Arg474Pro)	PEAR1 (R474P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266298	NM_001080471.3(PEAR1):c.1372G>T (p.Ala458Ser)	PEAR1 (A394S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265561	NM_001080471.3(PEAR1):c.2197C>T (p.Pro733Ser)	PEAR1 (P733S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261272	NM_001080471.3(PEAR1):c.1651C>T (p.Arg551Cys)	PEAR1 (R487C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251790	NM_001080471.3(PEAR1):c.1736C>A (p.Thr579Asn)	PEAR1 (T515N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243947	NM_001080471.3(PEAR1):c.1700G>T (p.Cys567Phe)	PEAR1 (C503F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240638	NM_001080471.3(PEAR1):c.813C>A (p.Asn271Lys)	PEAR1 (N207K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223947	NM_001080471.3(PEAR1):c.2585C>T (p.Thr862Ile)	PEAR1 (T798I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220534	NM_001080471.3(PEAR1):c.284A>T (p.Tyr95Phe)	PEAR1 (Y31F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205240	NM_001080471.3(PEAR1):c.908G>T (p.Arg303Leu)	PEAR1 (R239L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341236	GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1	CRABP2, HDGF +9 more	Copy number loss	not provided	GUncertain significance
Select item 1243276	NM_001080471.3(PEAR1):c.2544C>A (p.Asn848Lys)	PEAR1 (N784K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 789552	NM_001080471.3(PEAR1):c.841G>T (p.Gly281Cys)	PEAR1 (G217C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786471	NM_001080471.3(PEAR1):c.2466C>T (p.Tyr822=)	PEAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775610	NM_001080471.3(PEAR1):c.1806G>A (p.Arg602=)	PEAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	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
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 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 85