"Ambry Genetics"[submitter] AND "PEAR1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3305722	NM_001080471.3(PEAR1):c.3101G>A (p.Arg1034His)	PEAR1 (R970H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68