"GeneDx"[submitter] AND "PDGFRA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 348893	NM_006206.6(PDGFRA):c.-106AG[1]	PDGFRA	Microsatellite (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1257913	NM_006206.6(PDGFRA):c.-13+111dup	PDGFRA	Duplication (intron variant)	not provided	GBenign
Select item 1302476	NM_006206.6(PDGFRA):c.-13+132T>G	PDGFRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195004	NM_006206.6(PDGFRA):c.-13+156dup	PDGFRA	Duplication (intron variant)	not provided	GLikely benign
Select item 1263122	NM_006206.6(PDGFRA):c.-12-333A>G	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182801	NM_006206.6(PDGFRA):c.-12-157A>G	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 240317	NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu)	PDGFRA (P6L +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 951547	NM_006206.6(PDGFRA):c.19G>T (p.Ala7Ser)	PDGFRA (A20S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 414491	NM_006206.6(PDGFRA):c.25C>T (p.Leu9=)	PDGFRA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 135017	NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser)	PDGFRA (T16S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 1288677	NM_006206.6(PDGFRA):c.49+74A>T	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
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 +3 more	GConflicting classifications of pathogenicity
Select item 135022	NM_006206.6(PDGFRA):c.97A>T (p.Asn33Tyr)	PDGFRA (N33Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 407434	NM_006206.6(PDGFRA):c.133T>C (p.Phe45Leu)	PDGFRA (F45L +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +3 more	GUncertain significance
Select item 654298	NM_006206.6(PDGFRA):c.158G>T (p.Ser53Ile)	PDGFRA (S66I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 2696658	NM_006206.6(PDGFRA):c.194A>G (p.Glu65Gly)	PDGFRA (E65G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 240322	NM_006206.6(PDGFRA):c.201C>T (p.Ser67=)	PDGFRA	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 41797	NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp)	PDGFRA (G79D +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +3 more	GBenign/Likely benign
Select item 407420	NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met)	PDGFRA (T83M +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
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 240335	NM_006206.6(PDGFRA):c.276G>A (p.Ala92=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 839446	NM_006206.6(PDGFRA):c.295A>G (p.Thr99Ala)	PDGFRA (T112A +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 259954	NM_006206.6(PDGFRA):c.368-3C>T	PDGFRA	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 407408	NM_006206.6(PDGFRA):c.401C>T (p.Thr134Met)	PDGFRA (T134M +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 568244	NM_006206.6(PDGFRA):c.405T>A (p.Asp135Glu)	PDGFRA (D135E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3364182	NM_006206.6(PDGFRA):c.412G>A (p.Val138Ile)	PDGFRA (V138I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343371	NM_006206.6(PDGFRA):c.457A>G (p.Thr153Ala)	PDGFRA (T153A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 407397	NM_006206.6(PDGFRA):c.466G>A (p.Glu156Lys)	PDGFRA (E156K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 528580	NM_006206.6(PDGFRA):c.492T>G (p.Ser164Arg)	PDGFRA (S164R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 2662800	NM_006206.6(PDGFRA):c.506C>T (p.Pro169Leu)	PDGFRA (P169L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 648175	NM_006206.6(PDGFRA):c.517G>C (p.Asp173His)	PDGFRA (D173H +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +3 more	GConflicting classifications of pathogenicity
Select item 1003659	NM_006206.6(PDGFRA):c.592T>A (p.Phe198Ile)	PDGFRA (F198I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 259955	NM_006206.6(PDGFRA):c.612T>C (p.Asn204=)	PDGFRA	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 826200	NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile)	PDGFRA (V218I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 1276038	NM_006206.6(PDGFRA):c.628+60G>A	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703377	NM_006206.6(PDGFRA):c.628+82dup	PDGFRA	Duplication (intron variant)	not provided	GLikely benign
Select item 1288290	NM_006206.6(PDGFRA):c.629-292T>G	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189757	NM_006206.6(PDGFRA):c.629-169C>T	PDGFRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678743	NM_006206.6(PDGFRA):c.629-68dup	PDGFRA	Duplication (intron variant)	not provided	GLikely benign
Select item 1246002	NM_006206.6(PDGFRA):c.629-68del	PDGFRA	Deletion (intron variant)	not provided	GBenign
Select item 1243890	NM_006206.6(PDGFRA):c.629-69_629-68del	PDGFRA	Deletion (intron variant)	not provided	GBenign
Select item 41801	NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)	PDGFRA (L221F +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 459118	NM_006206.6(PDGFRA):c.670G>A (p.Val224Met)	PDGFRA (V224M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 348895	NM_006206.6(PDGFRA):c.672G>A (p.Val224=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +4 more	GBenign/Likely benign
Select item 452806	NM_006206.6(PDGFRA):c.701C>T (p.Thr234Ile)	PDGFRA (T234I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1233825	NM_006206.6(PDGFRA):c.759+234C>A	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271288	NM_006206.6(PDGFRA):c.760-204T>C	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 566904	NM_006206.6(PDGFRA):c.772A>G (p.Ile258Val)	PDGFRA (I258V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 407440	NM_006206.6(PDGFRA):c.784G>C (p.Glu262Gln)	PDGFRA (E262Q +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 459123	NM_006206.6(PDGFRA):c.799C>T (p.Pro267Ser)	PDGFRA (P267S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 571306	NM_006206.6(PDGFRA):c.809A>C (p.Lys270Thr)	PDGFRA (K270T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 843643	NM_006206.6(PDGFRA):c.821C>G (p.Thr274Ser)	PDGFRA (T274S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348896	NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met)	PDGFRA (T276M +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +4 more	GConflicting classifications of pathogenicity
Select item 240363	NM_006206.6(PDGFRA):c.842C>T (p.Thr281Met)	PDGFRA (T281M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 528584	NM_006206.6(PDGFRA):c.859G>A (p.Asp287Asn)	PDGFRA (D287N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2446704	NM_006206.6(PDGFRA):c.865G>C (p.Glu289Gln)	PDGFRA (E289Q +2 more)	Single nucleotide variant (missense variant)	not provided +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)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +3 more	GUncertain significance
Select item 528615	NM_006206.6(PDGFRA):c.878G>A (p.Arg293His)	PDGFRA (R293H +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 41802	NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala)	PDGFRA (V299A +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 459126	NM_006206.6(PDGFRA):c.898A>G (p.Lys300Glu)	PDGFRA (K300E +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 240366	NM_006206.6(PDGFRA):c.899A>C (p.Lys300Thr)	PDGFRA (K300T +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1593747	NM_006206.6(PDGFRA):c.932-13C>A	PDGFRA	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348897	NM_006206.6(PDGFRA):c.932-4A>G	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +3 more	GBenign
Select item 259956	NM_006206.6(PDGFRA):c.939T>G (p.Gly313=)	PDGFRA	Single nucleotide variant (synonymous variant)	Idiopathic hypereosinophilic syndrome +4 more	GBenign
Select item 221101	NM_006206.6(PDGFRA):c.996C>T (p.Val332=)	PDGFRA	Single nucleotide variant (synonymous variant)	Idiopathic hypereosinophilic syndrome +3 more	GBenign/Likely benign
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 +3 more	GUncertain significance
Select item 41790	NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln)	PDGFRA (R340Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 135027	NM_006206.6(PDGFRA):c.1057A>C (p.Asn353His)	PDGFRA (N353H +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 2705791	NM_006206.6(PDGFRA):c.1087A>G (p.Ile363Val)	PDGFRA (I376V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 41791	NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met)	PDGFRA (V367M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 259948	NM_006206.6(PDGFRA):c.1121+28C>T	PDGFRA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1196660	NM_006206.6(PDGFRA):c.1121+35T>A	PDGFRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269867	NM_006206.6(PDGFRA):c.1121+51C>T	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263933	NM_006206.6(PDGFRA):c.1121+275G>T	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254065	NM_006206.6(PDGFRA):c.1122-66C>T	PDGFRA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 579400	NM_006206.6(PDGFRA):c.1133A>C (p.Lys378Thr)	PDGFRA (K378T +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 220810	NM_006206.6(PDGFRA):c.1133A>T (p.Lys378Ile)	PDGFRA (K378I +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 218679	NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)	PDGFRA (L379V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 407404	NM_006206.6(PDGFRA):c.1237+3A>T	PDGFRA	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1220947	NM_006206.6(PDGFRA):c.1237+268T>C	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 407426	NM_006206.6(PDGFRA):c.1243T>C (p.Ser415Pro)	PDGFRA (S415P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 458993	NM_006206.6(PDGFRA):c.1264G>A (p.Asp422Asn)	PDGFRA (D422N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 573290	NM_006206.6(PDGFRA):c.1267G>A (p.Asp423Asn)	PDGFRA (D423N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 407410	NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)	PDGFRA (H425R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 414502	NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu)	PDGFRA (S427L +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +4 more	GConflicting classifications of pathogenicity
Select item 240299	NM_006206.6(PDGFRA):c.1282A>G (p.Thr428Ala)	PDGFRA (T428A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 41792	NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg)	PDGFRA (G429R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 458995	NM_006206.6(PDGFRA):c.1295C>T (p.Thr432Met)	PDGFRA (T432M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 135030	NM_006206.6(PDGFRA):c.1307C>T (p.Thr436Ile)	PDGFRA (T436I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 240303	NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met)	PDGFRA (T440M +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 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)	not provided +3 more	GUncertain significance
Select item 240305	NM_006206.6(PDGFRA):c.1388C>G (p.Thr463Ser)	PDGFRA (T463S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 458998	NM_006206.6(PDGFRA):c.1411A>C (p.Asn471His)	PDGFRA (N471H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1044575	NM_006206.6(PDGFRA):c.1412A>G (p.Asn471Ser)	PDGFRA (N484S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 528521	NM_006206.6(PDGFRA):c.1414A>G (p.Ile472Val)	PDGFRA (I472V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity

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