ClinVar for Gene (Select 5156) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3225320	NM_006206.6(PDGFRA):c.930T>C (p.His310=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225319	NM_006206.6(PDGFRA):c.847A>G (p.Lys283Glu)	PDGFRA (K283E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225318	NM_006206.6(PDGFRA):c.807C>G (p.Ile269Met)	PDGFRA (I269M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225317	NM_006206.6(PDGFRA):c.748C>G (p.Pro250Ala)	PDGFRA (P250A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225316	NM_006206.6(PDGFRA):c.731A>T (p.Asp244Val)	PDGFRA (D244V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225315	NM_006206.6(PDGFRA):c.693T>A (p.Ile231=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225314	NM_006206.6(PDGFRA):c.684G>T (p.Gly228=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225313	NM_006206.6(PDGFRA):c.611A>G (p.Asn204Ser)	PDGFRA (N204S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225312	NM_006206.6(PDGFRA):c.5G>C (p.Gly2Ala)	PDGFRA (G15A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225311	NM_006206.6(PDGFRA):c.550G>C (p.Val184Leu)	PDGFRA (V184L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225310	NM_006206.6(PDGFRA):c.544T>C (p.Phe182Leu)	PDGFRA (F182L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225309	NM_006206.6(PDGFRA):c.436G>C (p.Ala146Pro)	PDGFRA (A146P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225308	NM_006206.6(PDGFRA):c.411A>T (p.Leu137Phe)	PDGFRA (L137F +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225307	NM_006206.6(PDGFRA):c.393A>G (p.Leu131=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225306	NM_006206.6(PDGFRA):c.3213C>T (p.Asp1071=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225305	NM_006206.6(PDGFRA):c.3195G>T (p.Glu1065Asp)	PDGFRA (E1065D +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225304	NM_006206.6(PDGFRA):c.3178A>G (p.Ile1060Val)	PDGFRA (I1060V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225303	NM_006206.6(PDGFRA):c.3114C>T (p.Asn1038=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225302	NM_006206.6(PDGFRA):c.3095A>G (p.Glu1032Gly)	PDGFRA (E1032G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225301	NM_006206.6(PDGFRA):c.3059T>C (p.Ile1020Thr)	PDGFRA (I1020T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225300	NM_006206.6(PDGFRA):c.3042T>G (p.Ala1014=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225299	NM_006206.6(PDGFRA):c.3041C>G (p.Ala1014Gly)	PDGFRA (A1014G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225298	NM_006206.6(PDGFRA):c.3021G>A (p.Leu1007=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225297	NM_006206.6(PDGFRA):c.3013G>A (p.Gly1005Ser)	PDGFRA (G1005S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225296	NM_006206.6(PDGFRA):c.2968G>T (p.Gly990Cys)	PDGFRA (G1003C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225295	NM_006206.6(PDGFRA):c.2893A>G (p.Ile965Val)	PDGFRA (I965V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225294	NM_006206.6(PDGFRA):c.2851G>A (p.Glu951Lys)	PDGFRA (E951K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225293	NM_006206.6(PDGFRA):c.2822C>T (p.Pro941Leu)	PDGFRA (P941L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225292	NM_006206.6(PDGFRA):c.2802C>G (p.Asn934Lys)	PDGFRA (N934K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225291	NM_006206.6(PDGFRA):c.2681C>G (p.Thr894Ser)	PDGFRA (T894S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225290	NM_006206.6(PDGFRA):c.265A>C (p.Ser89Arg)	PDGFRA (S102R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225289	NM_006206.6(PDGFRA):c.2636G>T (p.Trp879Leu)	PDGFRA (W879L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225288	NM_006206.6(PDGFRA):c.255G>A (p.Leu85=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225287	NM_006206.6(PDGFRA):c.2555A>C (p.Lys852Thr)	PDGFRA (K852T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225286	NM_006206.6(PDGFRA):c.2541G>T (p.Ser847=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225285	NM_006206.6(PDGFRA):c.2470_2472delinsATT (p.Val824Ile)	PDGFRA (V824I +2 more)	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225284	NM_006206.6(PDGFRA):c.2421G>T (p.Glu807Asp)	PDGFRA (E807D +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225283	NM_006206.6(PDGFRA):c.2406T>C (p.Val802=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225282	NM_006206.6(PDGFRA):c.2372C>A (p.Thr791Asn)	PDGFRA (T791N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225281	NM_006206.6(PDGFRA):c.2370T>G (p.Leu790=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225280	NM_006206.6(PDGFRA):c.2184T>C (p.Asn728=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225279	NM_006206.6(PDGFRA):c.2164A>G (p.Ile722Val)	PDGFRA (I722V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225278	NM_006206.6(PDGFRA):c.2117A>T (p.Asp706Val)	PDGFRA (D706V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225277	NM_006206.6(PDGFRA):c.2052C>T (p.Asn684=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225276	NM_006206.6(PDGFRA):c.1953G>A (p.Leu651=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225275	NM_006206.6(PDGFRA):c.1952T>C (p.Leu651Pro)	PDGFRA (L651P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225274	NM_006206.6(PDGFRA):c.1937A>T (p.Lys646Met)	PDGFRA (K646M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225273	NM_006206.6(PDGFRA):c.1914A>C (p.Lys638Asn)	PDGFRA (K638N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225272	NM_006206.6(PDGFRA):c.1827A>G (p.Glu609=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225271	NM_006206.6(PDGFRA):c.1825G>C (p.Glu609Gln)	PDGFRA (E609Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225270	NM_006206.6(PDGFRA):c.1808C>A (p.Ala603Glu)	PDGFRA (A603E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225269	NM_006206.6(PDGFRA):c.1776A>T (p.Gly592=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225268	NM_006206.6(PDGFRA):c.1775G>A (p.Gly592Glu)	PDGFRA (G592E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225267	NM_006206.6(PDGFRA):c.1719T>G (p.Ile573Met)	PDGFRA (I573M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225266	NM_006206.6(PDGFRA):c.167G>T (p.Ser56Ile)	PDGFRA (S56I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225265	NM_006206.6(PDGFRA):c.1637T>C (p.Val546Ala)	PDGFRA (V546A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225264	NM_006206.6(PDGFRA):c.1598T>G (p.Val533Gly)	PDGFRA (V533G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225263	NM_006206.6(PDGFRA):c.1507G>T (p.Ala503Ser)	PDGFRA (A503S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225262	NM_006206.6(PDGFRA):c.13C>T (p.His5Tyr)	PDGFRA (H18Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225261	NM_006206.6(PDGFRA):c.1392T>C (p.Ile464=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3225260	NM_006206.6(PDGFRA):c.1348T>C (p.Cys450Arg)	PDGFRA (C450R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225259	NM_006206.6(PDGFRA):c.1327C>T (p.Pro443Ser)	PDGFRA (P443S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225258	NM_006206.6(PDGFRA):c.122T>A (p.Leu41Gln)	PDGFRA (L41Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225257	NM_006206.6(PDGFRA):c.1061T>C (p.Leu354Pro)	PDGFRA (L354P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225256	NM_006206.6(PDGFRA):c.101A>C (p.Glu34Ala)	PDGFRA (E34A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3225255	NM_006206.6(PDGFRA):c.1001A>T (p.His334Leu)	PDGFRA (H334L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3210837	NM_006206.6(PDGFRA):c.1942A>G (p.Met648Val)	PDGFRA (M648V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3061130	NM_006206.6(PDGFRA):c.2563-7C>T	PDGFRA	Single nucleotide variant (intron variant)	PDGFRA-related condition	GLikely benign
Select item 3051978	NM_006206.6(PDGFRA):c.2323+1177del	LOC126807054, PDGFRA (P801fs)	Deletion (frameshift variant +1 more)	PDGFRA-related condition	GUncertain significance
Select item 3032962	NM_006206.6(PDGFRA):c.-13+10673A>G	PDGFRA	Single nucleotide variant (synonymous variant +1 more)	PDGFRA-related condition	GLikely benign
Select item 3031822	NM_006206.6(PDGFRA):c.-13+10679C>T	PDGFRA	Single nucleotide variant (synonymous variant +1 more)	PDGFRA-related condition	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3023828	NM_006206.6(PDGFRA):c.2324-3C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3023570	NM_006206.6(PDGFRA):c.624A>C (p.Leu208Phe)	PDGFRA (L221F +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3022921	NM_006206.6(PDGFRA):c.1402_1404del (p.Asn468del)	PDGFRA (N481del +2 more)	Deletion (inframe_deletion)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3020862	NM_006206.6(PDGFRA):c.3117A>G (p.Arg1039=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3014072	NM_006206.6(PDGFRA):c.3122+19T>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3013974	NM_006206.6(PDGFRA):c.2195T>C (p.Met732Thr)	PDGFRA (M732T +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3013765	NM_006206.6(PDGFRA):c.367+14G>A	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3013429	NM_006206.6(PDGFRA):c.2139T>C (p.Ala713=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3012823	NM_006206.6(PDGFRA):c.1237+12G>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3012618	NM_006206.6(PDGFRA):c.1473C>T (p.Ala491=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3008519	NM_006206.6(PDGFRA):c.1122-11T>G	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3007566	NM_006206.6(PDGFRA):c.2277A>G (p.Arg759=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3007383	NM_006206.6(PDGFRA):c.2562T>C (p.Ser854=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3005094	NM_006206.6(PDGFRA):c.2156+3G>A	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3005026	NM_006206.6(PDGFRA):c.2323+19A>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3002538	NM_006206.6(PDGFRA):c.271T>G (p.Ser91Ala)	PDGFRA (S91A +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2996223	NM_006206.6(PDGFRA):c.3090G>A (p.Glu1030=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2994335	NM_006206.6(PDGFRA):c.1365-9T>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2988991	NM_006206.6(PDGFRA):c.373G>C (p.Asp125His)	PDGFRA (D125H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2987738	NM_006206.6(PDGFRA):c.3199A>G (p.Ile1067Val)	PDGFRA (I1080V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2987524	NM_006206.6(PDGFRA):c.764G>C (p.Gly255Ala)	PDGFRA (G255A +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2982189	NM_006206.6(PDGFRA):c.2374T>A (p.Leu792Ile)	PDGFRA (L792I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2981007	NM_006206.6(PDGFRA):c.1064C>A (p.Thr355Asn)	PDGFRA (T355N +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2978167	NM_006206.6(PDGFRA):c.628+4C>G	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2973425	NM_006206.6(PDGFRA):c.1122-7T>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2972288	NM_006206.6(PDGFRA):c.1654-17G>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2971327	NM_006206.6(PDGFRA):c.1654-15C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2967169	NM_006206.6(PDGFRA):c.256G>A (p.Glu86Lys)	PDGFRA (E111K +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance

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