ClinVar for MedGen (Select 1677803) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677594	NM_006206.6(PDGFRA):c.1102G>A (p.Glu368Lys)	PDGFRA (E368K +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677593	NM_006206.6(PDGFRA):c.2235G>T (p.Met745Ile)	PDGFRA (M745I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 2677592	NM_006206.6(PDGFRA):c.1556C>A (p.Pro519His)	PDGFRA (P519H +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677591	NM_006206.6(PDGFRA):c.2120T>G (p.Ile707Ser)	PDGFRA (I707S +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677589	NM_006206.6(PDGFRA):c.1589C>T (p.Ala530Val)	PDGFRA (A530V +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677588	NM_006206.6(PDGFRA):c.2054A>G (p.Tyr685Cys)	PDGFRA (Y685C +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677587	NM_006206.6(PDGFRA):c.309_310delinsAA (p.Asn103_His104delinsLysAsn)	PDGFRA	Indel (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 2677586	NM_006206.6(PDGFRA):c.1736A>G (p.Gln579Arg)	PDGFRA (Q579R +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677585	NM_006206.6(PDGFRA):c.3173C>A (p.Thr1058Asn)	PDGFRA (T1058N +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677584	NM_006206.6(PDGFRA):c.1616T>A (p.Ile539Asn)	PDGFRA (I539N +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677583	NM_006206.6(PDGFRA):c.502G>T (p.Val168Leu)	PDGFRA (V168L +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677582	NM_006206.6(PDGFRA):c.2922T>A (p.His974Gln)	PDGFRA (H974Q +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677581	NM_006206.6(PDGFRA):c.2840G>A (p.Ser947Asn)	PDGFRA (S947N +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2677579	NM_006206.6(PDGFRA):c.2186G>A (p.Gly729Asp)	PDGFRA (G729D +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2503510	NM_006206.6(PDGFRA):c.2323+1180T>C	LOC126807054, PDGFRA (L802P)	Single nucleotide variant (missense variant +1 more)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GUncertain significance
Select item 2151718	NM_006206.6(PDGFRA):c.2942G>C (p.Arg981Pro)	PDGFRA (R1006P +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1786183	NM_006206.6(PDGFRA):c.2116G>T (p.Asp706Tyr)	PDGFRA (D706Y +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1776846	NM_006206.6(PDGFRA):c.1631T>G (p.Val544Gly)	PDGFRA (V557G +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 1729355	NM_006206.6(PDGFRA):c.3247C>A (p.Leu1083Met)	PDGFRA (L1108M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1720353	NM_006206.6(PDGFRA):c.1552G>A (p.Ala518Thr)	PDGFRA (A518T +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 1512628	NM_006206.6(PDGFRA):c.730G>A (p.Asp244Asn)	PDGFRA (D244N +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 1486066	NM_006206.6(PDGFRA):c.2992G>A (p.Asp998Asn)	PDGFRA (D1023N +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 1379958	NM_006206.6(PDGFRA):c.1962T>A (p.His654Gln)	PDGFRA (H654Q +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1362887	NM_006206.6(PDGFRA):c.760A>G (p.Lys254Glu)	PDGFRA (K279E +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1345389	NM_006206.6(PDGFRA):c.2335A>G (p.Lys779Glu)	PDGFRA (K779E +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1047778	NM_006206.6(PDGFRA):c.1000C>T (p.His334Tyr)	PDGFRA (H347Y +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 1035452	NM_006206.6(PDGFRA):c.1792G>A (p.Val598Ile)	PDGFRA (V598I +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 1019501	NM_006206.6(PDGFRA):c.3237C>A (p.Asp1079Glu)	PDGFRA (D1079E +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 1007897	NM_006206.6(PDGFRA):c.502G>A (p.Val168Ile)	PDGFRA (V168I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 970829	NM_006206.6(PDGFRA):c.1298T>C (p.Val433Ala)	PDGFRA (V433A +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 949480	NM_006206.6(PDGFRA):c.2342T>A (p.Leu781His)	PDGFRA (L794H +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 937134	NM_006206.6(PDGFRA):c.2303A>G (p.Tyr768Cys)	PDGFRA (Y793C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 855876	NM_006206.6(PDGFRA):c.40C>T (p.Leu14Phe)	PDGFRA (L27F +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 846986	NM_006206.6(PDGFRA):c.2014A>G (p.Ile672Val)	PDGFRA (I672V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 843187	NM_006206.6(PDGFRA):c.206T>C (p.Val69Ala)	PDGFRA (V94A +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 802074	NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys)	PDGFRA (R151C +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GConflicting classifications of pathogenicity
Select item 660989	NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr)	PDGFRA (M758T +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 660967	NM_006206.6(PDGFRA):c.581A>G (p.Lys194Arg)	PDGFRA (K219R +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 660903	NM_006206.6(PDGFRA):c.2960C>T (p.Ala987Val)	PDGFRA (A987V +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 657185	NM_006206.6(PDGFRA):c.2692G>A (p.Gly898Ser)	PDGFRA (G898S +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 653719	NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr)	PDGFRA (I1067T +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +2 more	GUncertain significance
Select item 653558	NM_006206.6(PDGFRA):c.2285A>G (p.Tyr762Cys)	PDGFRA (Y787C +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 651490	NM_006206.6(PDGFRA):c.2449C>T (p.Arg817Cys)	PDGFRA (R842C +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GConflicting classifications of pathogenicity
Select item 645446	NM_006206.6(PDGFRA):c.2781G>C (p.Glu927Asp)	PDGFRA (E927D +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 639421	NM_006206.6(PDGFRA):c.2215A>G (p.Thr739Ala)	PDGFRA (T739A +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 635778	NM_006206.6(PDGFRA):c.2537A>T (p.Asp846Val)	PDGFRA (D859V +1 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GPathogenic
Select item 635777	NM_006206.6(PDGFRA):c.1957_1958delinsTT (p.Pro653Leu)	PDGFRA (P666L +1 more)	Indel (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal	GPathogenic
Select item 579600	NM_006206.6(PDGFRA):c.3218T>C (p.Met1073Thr)	PDGFRA (M1073T +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 578636	NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr)	PDGFRA (I657T +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 577591	NM_006206.6(PDGFRA):c.1577C>T (p.Thr526Met)	PDGFRA (T526M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 573963	NM_006206.6(PDGFRA):c.3193G>A (p.Glu1065Lys)	PDGFRA (E1065K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 572849	NM_006206.6(PDGFRA):c.2939T>C (p.Met980Thr)	PDGFRA (M980T +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 572635	NM_006206.6(PDGFRA):c.986T>C (p.Leu329Pro)	PDGFRA (L329P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 572557	NM_006206.6(PDGFRA):c.1850G>C (p.Arg617Pro)	PDGFRA (R617P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 570593	NM_006206.6(PDGFRA):c.3101T>C (p.Leu1034Pro)	PDGFRA (L1034P +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 568876	NM_006206.6(PDGFRA):c.2890A>G (p.Lys964Glu)	PDGFRA (K964E +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 567533	NM_006206.6(PDGFRA):c.502G>C (p.Val168Leu)	PDGFRA (V168L +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 528618	NM_006206.6(PDGFRA):c.527A>G (p.Gln176Arg)	PDGFRA (Q176R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 528593	NM_006206.6(PDGFRA):c.3058A>G (p.Ile1020Val)	PDGFRA (I1020V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 528567	NM_006206.6(PDGFRA):c.418G>A (p.Val140Met)	PDGFRA (V140M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 528564	NM_006206.6(PDGFRA):c.3223G>A (p.Asp1075Asn)	PDGFRA (D1075N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 528558	NM_006206.6(PDGFRA):c.230A>G (p.Asn77Ser)	PDGFRA (N77S +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 528530	NM_006206.6(PDGFRA):c.2689C>T (p.Pro897Ser)	PDGFRA (P897S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 528517	NM_006206.6(PDGFRA):c.3128A>G (p.Gln1043Arg)	PDGFRA (Q1043R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 528508	NM_006206.6(PDGFRA):c.1460G>A (p.Arg487His)	PDGFRA (R487H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 528506	NM_006206.6(PDGFRA):c.1565G>A (p.Arg522His)	PDGFRA (R522H +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 528495	NM_006206.6(PDGFRA):c.275C>T (p.Ala92Val)	PDGFRA (A92V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 459134	NM_006206.6(PDGFRA):c.988C>T (p.His330Tyr)	PDGFRA (H330Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 459123	NM_006206.6(PDGFRA):c.799C>T (p.Pro267Ser)	PDGFRA (P267S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 459107	NM_006206.6(PDGFRA):c.50G>T (p.Gly17Val)	PDGFRA (G17V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 459081	NM_006206.6(PDGFRA):c.3040G>A (p.Ala1014Thr)	PDGFRA (A1014T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 459067	NM_006206.6(PDGFRA):c.272C>T (p.Ser91Leu)	PDGFRA (S91L +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 459033	NM_006206.6(PDGFRA):c.1926G>A (p.Met642Ile)	PDGFRA (M642I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 459030	NM_006206.6(PDGFRA):c.1895C>T (p.Thr632Met)	PDGFRA (T632M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 459014	NM_006206.6(PDGFRA):c.1642A>G (p.Ile548Val)	PDGFRA (I548V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 459010	NM_006206.6(PDGFRA):c.1567T>A (p.Ser523Thr)	PDGFRA (S523T +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 414502	NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu)	PDGFRA (S427L +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 407443	NM_006206.6(PDGFRA):c.1357A>G (p.Ile453Val)	PDGFRA (I453V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 407439	NM_006206.6(PDGFRA):c.3226A>G (p.Ile1076Val)	PDGFRA (I1076V +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 407436	NM_006206.6(PDGFRA):c.2953G>A (p.Asp985Asn)	PDGFRA (D985N +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 407430	NM_006206.6(PDGFRA):c.2711C>T (p.Thr904Ile)	PDGFRA (T904I +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 407429	NM_006206.6(PDGFRA):c.1822G>A (p.Val608Ile)	PDGFRA (V608I +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +3 more	GUncertain significance
Select item 407425	NM_006206.6(PDGFRA):c.1424A>C (p.Glu475Ala)	PDGFRA (E475A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 407422	NM_006206.6(PDGFRA):c.2075G>A (p.Ser692Asn)	PDGFRA (S692N +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 407420	NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met)	PDGFRA (T83M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 407410	NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)	PDGFRA (H425R +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +5 more	GUncertain significance
Select item 407407	NM_006206.6(PDGFRA):c.1492G>A (p.Ala498Thr)	PDGFRA (A498T +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 407400	NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys)	PDGFRA (Q551K +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 407398	NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val)	PDGFRA (I989V +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +4 more	GConflicting classifications of pathogenicity
Select item 407395	NM_006206.6(PDGFRA):c.2534A>G (p.His845Arg)	PDGFRA (H845R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 407393	NM_006206.6(PDGFRA):c.2153G>A (p.Arg718Gln)	PDGFRA (R718Q +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 407386	NM_006206.6(PDGFRA):c.877C>T (p.Arg293Cys)	PDGFRA (R293C +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 407385	NM_006206.6(PDGFRA):c.1522G>A (p.Gly508Arg)	PDGFRA (G508R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 407382	NM_006206.6(PDGFRA):c.1018C>T (p.Arg340Trp)	PDGFRA (R340W +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 407381	NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser)	PDGFRA (A280S +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +3 more	GUncertain significance
Select item 407380	NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu)	PDGFRA (P553L +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +4 more	GUncertain significance
Select item 407378	NM_006206.6(PDGFRA):c.94C>A (p.Pro32Thr)	PDGFRA (P32T +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 407376	NM_006206.6(PDGFRA):c.88A>G (p.Ile30Val)	PDGFRA (I30V +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 348908	NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly)	PDGFRA (D1064G +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 348905	NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn)	PDGFRA (D756N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity

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