ClinVar for MedGen (Select 61525) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434630	NM_006206.6(PDGFRA):c.2429C>G (p.Ala810Gly)	PDGFRA (A810G +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome	GUncertain significance
Select item 2201771	NM_006206.6(PDGFRA):c.2975C>T (p.Thr992Ile)	PDGFRA (T1005I +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 931718	NM_006206.6(PDGFRA):c.2221C>T (p.Gln741Ter)	PDGFRA (Q741* +2 more)	Single nucleotide variant (nonsense)	Idiopathic hypereosinophilic syndrome	GUncertain significance
Select item 903420	NM_006206.6(PDGFRA):c.*1778C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GConflicting classifications of pathogenicity
Select item 903359	NM_006206.6(PDGFRA):c.*791A>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 903215	NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn)	PDGFRA (K666N +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 902681	NM_006206.6(PDGFRA):c.*2873C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GBenign/Likely benign
Select item 902624	NM_006206.6(PDGFRA):c.*2186G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 902623	NM_006206.6(PDGFRA):c.*2142G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 902622	NM_006206.6(PDGFRA):c.*2121C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 902571	NM_006206.6(PDGFRA):c.*1334G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 902495	NM_006206.6(PDGFRA):c.*691G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GBenign
Select item 902494	NM_006206.6(PDGFRA):c.*590C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 902425	NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=)	PDGFRA	Single nucleotide variant (synonymous variant)	Idiopathic hypereosinophilic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 902210	NM_006206.6(PDGFRA):c.480C>T (p.Thr160=)	PDGFRA	Single nucleotide variant (synonymous variant)	Idiopathic hypereosinophilic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 901774	NM_006206.6(PDGFRA):c.*2655A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 901712	NM_006206.6(PDGFRA):c.*2281C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 901711	NM_006206.6(PDGFRA):c.*2226C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 901225	NM_006206.6(PDGFRA):c.*2546A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GBenign/Likely benign
Select item 900968	NM_006206.6(PDGFRA):c.*2100A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 900967	NM_006206.6(PDGFRA):c.*2079A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 900901	NM_006206.6(PDGFRA):c.*1249C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 900900	NM_006206.6(PDGFRA):c.*1195A>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 900899	NM_006206.6(PDGFRA):c.*1133T>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 900819	NM_006206.6(PDGFRA):c.*479C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GBenign
Select item 900818	NM_006206.6(PDGFRA):c.*374A>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 900665	NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro)	PDGFRA (L595P +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 900068	NM_006206.6(PDGFRA):c.*2465A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GBenign/Likely benign
Select item 899746	NM_006206.6(PDGFRA):c.*1102T>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 899745	NM_006206.6(PDGFRA):c.*1050C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 899744	NM_006206.6(PDGFRA):c.*1039A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 899743	NM_006206.6(PDGFRA):c.*998C>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 899531	NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 899419	NM_006206.6(PDGFRA):c.-13+12G>T	PDGFRA	Single nucleotide variant (intron variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 823797	NM_006206.6(PDGFRA):c.345G>A (p.Arg115=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 822435	NM_006206.6(PDGFRA):c.2986G>A (p.Glu996Lys)	PDGFRA (E1009K +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +2 more	GUncertain significance
Select item 704382	NM_006206.6(PDGFRA):c.1794C>T (p.Val598=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 653719	NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr)	PDGFRA (I1067T +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 580883	NM_006206.6(PDGFRA):c.577G>A (p.Val193Ile)	PDGFRA (V193I +2 more)	Single nucleotide variant (missense variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 578636	NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr)	PDGFRA (I657T +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +3 more	GConflicting classifications of pathogenicity
Select item 528682	NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
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 414516	NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 414513	NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 414481	NM_006206.6(PDGFRA):c.2881-8G>A	PDGFRA	Single nucleotide variant (intron variant)	Idiopathic hypereosinophilic syndrome +1 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)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 407400	NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys)	PDGFRA (Q551K +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +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 407381	NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser)	PDGFRA (A280S +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +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)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 369441	NM_006206.5(PDGFRA):c.*2973+14G>A	PDGFRA	Single nucleotide variant	Idiopathic hypereosinophilic syndrome +1 more	GLikely benign
Select item 348953	NM_006206.6(PDGFRA):c.*2970G>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 348952	NM_006206.6(PDGFRA):c.*2856A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348951	NM_006206.6(PDGFRA):c.*2840A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348950	NM_006206.6(PDGFRA):c.*2604G>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348949	NM_006206.6(PDGFRA):c.*2559G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GBenign
Select item 348948	NM_006206.6(PDGFRA):c.*2538G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GBenign/Likely benign
Select item 348947	NM_006206.6(PDGFRA):c.*2504C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 348946	NM_006206.6(PDGFRA):c.*2496A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348945	NM_006206.6(PDGFRA):c.*2494C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348944	NM_006206.6(PDGFRA):c.*2475C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348943	NM_006206.6(PDGFRA):c.*2387T>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348942	NM_006206.6(PDGFRA):c.*2336T>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GConflicting classifications of pathogenicity
Select item 348941	NM_006206.6(PDGFRA):c.*2256G>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GBenign/Likely benign
Select item 348940	NM_006206.6(PDGFRA):c.*2111G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348939	NM_006206.6(PDGFRA):c.*2110C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348938	NM_006206.6(PDGFRA):c.*1971C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 348937	NM_006206.6(PDGFRA):c.*1939T>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GBenign
Select item 348936	NM_006206.6(PDGFRA):c.*1928G>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348935	NM_006206.6(PDGFRA):c.*1821A>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348934	NM_006206.6(PDGFRA):c.*1809G>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348933	NM_006206.6(PDGFRA):c.*1706T>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348932	NM_006206.6(PDGFRA):c.*1561T>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GBenign/Likely benign
Select item 348931	NM_006206.6(PDGFRA):c.*1521C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348930	NM_006206.6(PDGFRA):c.*1511C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GBenign
Select item 348929	NM_006206.6(PDGFRA):c.*1429C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GBenign
Select item 348928	NM_006206.6(PDGFRA):c.*1137G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348927	NM_006206.6(PDGFRA):c.1112_1113del	PDGFRA	Deletion (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348926	NM_006206.6(PDGFRA):c.*1111del	PDGFRA	Deletion (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348925	NM_006206.6(PDGFRA):c.1109_1111del	PDGFRA	Deletion (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 348924	NM_006206.6(PDGFRA):c.1110_1111del	PDGFRA	Deletion (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GBenign
Select item 348923	NM_006206.6(PDGFRA):c.*970CAAA[1]	PDGFRA	Microsatellite (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348922	NM_006206.6(PDGFRA):c.*936A>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348921	NM_006206.6(PDGFRA):c.*832T>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348920	NM_006206.6(PDGFRA):c.*793C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GBenign/Likely benign
Select item 348919	NM_006206.6(PDGFRA):c.574_575del	PDGFRA	Deletion (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348918	NM_006206.6(PDGFRA):c.*534A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348917	NM_006206.6(PDGFRA):c.*505A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GConflicting classifications of pathogenicity
Select item 348916	NM_006206.6(PDGFRA):c.*374A>C	PDGFRA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348915	NM_006206.6(PDGFRA):c.*332G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348914	NM_006206.6(PDGFRA):c.*136G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348913	NM_006206.6(PDGFRA):c.*78A>G	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +2 more	GBenign
Select item 348912	NM_006206.6(PDGFRA):c.*72C>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348911	NM_006206.6(PDGFRA):c.*51G>A	PDGFRA	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 348910	NM_006206.6(PDGFRA):c.*39C>T	PDGFRA	Single nucleotide variant (3 prime UTR variant)	Gastrointestinal stromal tumor +1 more	GConflicting classifications of pathogenicity
Select item 348909	NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met)	PDGFRA (I1076M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 348908	NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly)	PDGFRA (D1064G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 348907	NM_006206.6(PDGFRA):c.2674+6G>A	PDGFRA	Single nucleotide variant (intron variant)	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348906	NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity

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