ClinVar for MedGen (Select 116049) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25801511.	NM_004168.4(SDHA):c.992_999dup (p.Ala334fs) GRCh37: Chr5:233687-233688 GRCh38: Chr5:233572-233573	SDHA	A286fs, A334fs	Gastrointestinal stroma tumor	Likely pathogenic	no assertion criteria provided
Select item 24449002.	NM_000222.3(KIT):c.1412A>C (p.Lys471Thr) GRCh37: Chr4:55592088 GRCh38: Chr4:54725922	KIT	K471T, K472T	Gastrointestinal stroma tumor	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 24282903.	NM_000222.3(KIT):c.68-20G>C GRCh37: Chr4:55561658 GRCh38: Chr4:54695492	KIT		Gastrointestinal stroma tumor	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 24281494.	NM_000222.3(KIT):c.1116-20T>A GRCh37: Chr4:55575570 GRCh38: Chr4:54709404	KIT		Gastrointestinal stroma tumor	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 24255315.	NC_000004.11:g.(?_55143535)_(55161439_?)dup GRCh37: Chr4:55143535-55161439	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Oct 15, 2022)	criteria provided, single submitter
Select item 24255306.	NC_000004.11:g.(?_55124936)_(55161473_?)dup GRCh37: Chr4:55124936-55161473	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 24255297.	NC_000004.11:g.(?_55131076)_(55161473_?)dup GRCh37: Chr4:55131076-55161473	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 24255288.	NC_000004.11:g.(?_55094349)_(55127589_?)dup GRCh37: Chr4:55094349-55127589	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 24255279.	NC_000004.11:g.(?_55161282)_(55161473_?)dup GRCh37: Chr4:55161282-55161473	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 242552610.	NC_000004.11:g.(?_55161282)_(55161473_?)del GRCh37: Chr4:55161282-55161473	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 242495411.	NM_003001.5(SDHC):c.180-4A>G GRCh37: Chr1:161310380 GRCh38: Chr1:161340590	SDHC		Gastrointestinal stroma tumor, Paragangliomas 3	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 242460112.	NC_000001.10:g.(?_161284158)_(161284225_?)del GRCh37: Chr1:161284158-161284225	SDHC		Gastrointestinal stroma tumor, Paragangliomas 3	Pathogenic (Apr 27, 2022)	criteria provided, single submitter
Select item 242460013.	NC_000001.10:g.(?_161326457)_(161326640_?)dup GRCh37: Chr1:161326457-161326640	SDHC		Gastrointestinal stroma tumor, Paragangliomas 3	Likely pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 242459914.	NC_000001.10:g.(?_161298176)_(161298297_?)del GRCh37: Chr1:161298176-161298297	SDHC		Gastrointestinal stroma tumor, Paragangliomas 3	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 242459815.	NC_000001.10:g.(?_17359545)_(17359650_?)dup GRCh37: Chr1:17359545-17359650	SDHB		Gastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 242459716.	NC_000001.10:g.(?_17371256)_(17371383_?)dup GRCh37: Chr1:17371256-17371383	SDHB		Gastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma	Likely pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 242459617.	NC_000001.10:g.(?_17359545)_(17380514_?)del GRCh37: Chr1:17359545-17380514	SDHB		Gastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma	Pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 242459518.	NC_000001.10:g.(?_17371246)_(17380514_?)del GRCh37: Chr1:17371246-17380514	SDHB		Gastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma	Pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 242459419.	NC_000001.10:g.(?_17354234)_(17354370_?)del GRCh37: Chr1:17354234-17354370	SDHB		Gastrointestinal stroma tumor, Paragangliomas 4, Pheochromocytoma	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 242260620.	NC_000004.11:g.(?_55589740)_(55604723_?)dup GRCh37: Chr4:55589740-55604723	KIT		Gastrointestinal stroma tumor	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 242260521.	NC_000004.11:g.(?_55575570)_(55598184_?)dup GRCh37: Chr4:55575570-55598184	KIT		Gastrointestinal stroma tumor	Likely pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 242260422.	NC_000004.11:g.(?_55569880)_(55570068_?)del GRCh37: Chr4:55569880-55570068	KIT		Gastrointestinal stroma tumor	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 242260323.	NC_000004.11:g.(?_55604585)_(55604723_?)del GRCh37: Chr4:55604585-55604723	KIT		Gastrointestinal stroma tumor	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 242194524.	NM_006206.6(PDGFRA):c.1972G>T (p.Val658Leu) GRCh37: Chr4:55144143 GRCh38: Chr4:54277976	PDGFRA	V658L, V671L, V683L	Gastrointestinal stroma tumor	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 242193925.	NM_000222.3(KIT):c.1347-14T>A GRCh37: Chr4:55592009 GRCh38: Chr4:54725843	KIT		Gastrointestinal stroma tumor	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 242173426.	NM_000222.3(KIT):c.2484+10dup GRCh37: Chr4:55599365-55599366 GRCh38: Chr4:54733199-54733200	KIT		Gastrointestinal stroma tumor	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 242164527.	NM_000222.3(KIT):c.1879+20T>G GRCh37: Chr4:55594113 GRCh38: Chr4:54727947	KIT		Gastrointestinal stroma tumor	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 242104128.	NM_003000.3(SDHB):c.766-11C>G GRCh37: Chr1:17345464 GRCh38: Chr1:17018969	LOC129929541, SDHB		Pheochromocytoma, Gastrointestinal stroma tumor, Paragangliomas 4	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 242089629.	NM_000222.3(KIT):c.404G>T (p.Arg135Leu) GRCh37: Chr4:55564516 GRCh38: Chr4:54698350	KIT	R135L	Gastrointestinal stroma tumor	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 242005330.	NM_000222.3(KIT):c.1259G>T (p.Arg420Met) GRCh37: Chr4:55589777 GRCh38: Chr4:54723611	KIT	R420M, R421M	Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor	Uncertain significance (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241972331.	NM_006206.6(PDGFRA):c.1238-17_1238-15del GRCh37: Chr4:55138541-55138543 GRCh38: Chr4:54272374-54272376	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 241724332.	NM_006206.6(PDGFRA):c.2157-16C>T GRCh37: Chr4:55146467 GRCh38: Chr4:54280300	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 241693933.	NM_000222.3(KIT):c.2607C>G (p.Pro869=) GRCh37: Chr4:55602897 GRCh38: Chr4:54736731	KIT		Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor	Likely benign (Aug 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241605434.	NM_000222.3(KIT):c.1879+11G>A GRCh37: Chr4:55594104 GRCh38: Chr4:54727938	KIT		Gastrointestinal stroma tumor	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 241563835.	NM_003001.5(SDHC):c.74G>T (p.Arg25Ile) GRCh37: Chr1:161293457 GRCh38: Chr1:161323667	SDHC	R25I	Gastrointestinal stroma tumor, Paragangliomas 3	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 241491236.	NM_003000.3(SDHB):c.675C>T (p.Asp225=) GRCh37: Chr1:17349193 GRCh38: Chr1:17022698	SDHB		Paragangliomas 4, Gastrointestinal stroma tumor, Pheochromocytoma	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 241425237.	NM_006206.6(PDGFRA):c.2038G>A (p.Gly680Arg) GRCh37: Chr4:55144564 GRCh38: Chr4:54278397	PDGFRA	G680R, G693R, G705R	Gastrointestinal stroma tumor	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 241401038.	NM_000222.3(KIT):c.2803-8T>C GRCh37: Chr4:55604587 GRCh38: Chr4:54738421	KIT		Gastrointestinal stroma tumor	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 220354639.	NM_000222.3(KIT):c.2139del (p.Cys714fs) GRCh37: Chr4:55595648 GRCh38: Chr4:54729482	KIT	C710fs, C711fs, C714fs, C715fs	Gastrointestinal stroma tumor	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 220354540.	NM_000222.3(KIT):c.1925A>C (p.Lys642Thr) GRCh37: Chr4:55594222 GRCh38: Chr4:54728056	KIT	K638T, K642T, K639T, K643T	Gastrointestinal stroma tumor	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 220354441.	NM_000222.3(KIT):c.1829G>A (p.Gly610Asp) GRCh37: Chr4:55594043 GRCh38: Chr4:54727877	KIT	G607D, G610D, G611D, G606D	Gastrointestinal stroma tumor	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 220317842.	NM_006206.6(PDGFRA):c.694G>T (p.Val232Leu) GRCh37: Chr4:55131151 GRCh38: Chr4:54264984	PDGFRA	V257L, V232L, V245L	Gastrointestinal stroma tumor	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 220270843.	NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr) GRCh37: Chr1:17350544 GRCh38: Chr1:17024049	SDHB	C171Y, C189Y	Pheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor	Likely pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 220250444.	NM_006206.6(PDGFRA):c.313A>C (p.Thr105Pro) GRCh37: Chr4:55127525 GRCh38: Chr4:54261358	PDGFRA	T118P, T130P, T105P	Gastrointestinal stroma tumor	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 220185845.	NM_006206.6(PDGFRA):c.2736G>A (p.Gly912=) GRCh37: Chr4:55155027 GRCh38: Chr4:54288860	PDGFRA		Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome	Likely benign (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220178946.	NM_003001.5(SDHC):c.174C>A (p.Ile58=) GRCh37: Chr1:161298282 GRCh38: Chr1:161328492	SDHC		Paragangliomas 3, Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome	Likely benign (Apr 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220177147.	NM_006206.6(PDGFRA):c.2975C>T (p.Thr992Ile) GRCh37: Chr4:55156574 GRCh38: Chr4:54290407	PDGFRA	T1005I, T1017I, T992I	Gastrointestinal stroma tumor, Idiopathic hypereosinophilic syndrome	Uncertain significance (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220151648.	NM_003000.3(SDHB):c.541-14T>C GRCh37: Chr1:17350583 GRCh38: Chr1:17024088	SDHB		Pheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 220008749.	NM_000222.3(KIT):c.1315G>A (p.Asp439Asn) GRCh37: Chr4:55589833 GRCh38: Chr4:54723667	KIT	D439N, D440N	Gastrointestinal stroma tumor	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 219976750.	NM_003001.5(SDHC):c.36T>C (p.His12=) GRCh37: Chr1:161293419 GRCh38: Chr1:161323629	SDHC		Paragangliomas 3, Gastrointestinal stroma tumor	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 219967751.	NM_006206.6(PDGFRA):c.1364+18G>A GRCh37: Chr4:55138705 GRCh38: Chr4:54272538	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 219953452.	NM_006206.6(PDGFRA):c.1122-11T>A GRCh37: Chr4:55136789 GRCh38: Chr4:54270622	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 219943553.	NM_003001.5(SDHC):c.63G>A (p.Gln21=) GRCh37: Chr1:161293446 GRCh38: Chr1:161323656	SDHC		Paragangliomas 3, Gastrointestinal stroma tumor	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 219895254.	NM_000222.3(KIT):c.925+5A>G GRCh37: Chr4:55570063 GRCh38: Chr4:54703897	KIT		Gastrointestinal stroma tumor	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 219887455.	NM_000222.3(KIT):c.2802+1G>A GRCh37: Chr4:55603447 GRCh38: Chr4:54737281	KIT		Gastrointestinal stroma tumor	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 219852156.	NM_000222.3(KIT):c.2596+18A>G GRCh37: Chr4:55602793 GRCh38: Chr4:54736627	KIT		Gastrointestinal stroma tumor	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 219740557.	NM_006206.6(PDGFRA):c.1237+14G>A GRCh37: Chr4:55136929 GRCh38: Chr4:54270762	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 219737158.	NM_000222.3(KIT):c.1232-20C>T GRCh37: Chr4:55589730 GRCh38: Chr4:54723564	KIT		Gastrointestinal stroma tumor	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 219677559.	NM_000222.3(KIT):c.2234-15C>T GRCh37: Chr4:55598022 GRCh38: Chr4:54731856	KIT		Gastrointestinal stroma tumor	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 219677460.	NM_006206.6(PDGFRA):c.367+9G>T GRCh37: Chr4:55127588 GRCh38: Chr4:54261421	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 219414861.	NM_003000.3(SDHB):c.643-16A>G GRCh37: Chr1:17349241 GRCh38: Chr1:17022746	SDHB		Pheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 218970962.	NM_006206.6(PDGFRA):c.1329T>C (p.Pro443=) GRCh37: Chr4:55138652 GRCh38: Chr4:54272485	PDGFRA		Gastrointestinal stroma tumor, Hereditary cancer-predisposing syndrome	Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218882563.	NM_000222.3(KIT):c.1540+18C>A GRCh37: Chr4:55592234 GRCh38: Chr4:54726068	KIT		Gastrointestinal stroma tumor	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 218638764.	NM_006206.6(PDGFRA):c.2002+15C>G GRCh37: Chr4:55144188 GRCh38: Chr4:54278021	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 218467365.	NM_003000.3(SDHB):c.642+8G>A GRCh37: Chr1:17350460 GRCh38: Chr1:17023965	SDHB		Pheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 218338566.	NM_003000.3(SDHB):c.766-21_766-19del GRCh37: Chr1:17345472-17345474 GRCh38: Chr1:17018977-17018979	LOC129929541, SDHB		Pheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 218334867.	NM_006206.6(PDGFRA):c.2775-19T>G GRCh37: Chr4:55155157 GRCh38: Chr4:54288990	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 218267068.	NM_006206.6(PDGFRA):c.2277A>T (p.Arg759Ser) GRCh37: Chr4:55146603 GRCh38: Chr4:54280436	PDGFRA	R772S, R784S, R759S	Gastrointestinal stroma tumor	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 218264969.	NM_006206.6(PDGFRA):c.1576A>G (p.Thr526Ala) GRCh37: Chr4:55140715 GRCh38: Chr4:54274548	PDGFRA	T539A, T526A, T551A	Gastrointestinal stroma tumor	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 218029670.	NM_000222.3(KIT):c.222G>T (p.Thr74=) GRCh37: Chr4:55561832 GRCh38: Chr4:54695666	KIT		Gastrointestinal stroma tumor	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 217977671.	NM_000222.3(KIT):c.1990+14C>T GRCh37: Chr4:55594301 GRCh38: Chr4:54728135	KIT		Gastrointestinal stroma tumor	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 217897872.	NM_000222.3(KIT):c.620-20C>T GRCh37: Chr4:55565776 GRCh38: Chr4:54699610	KIT		Gastrointestinal stroma tumor	Likely benign (Dec 5, 2021)	criteria provided, single submitter
Select item 217836273.	NM_006206.6(PDGFRA):c.85T>G (p.Ser29Ala) GRCh37: Chr4:55127297 GRCh38: Chr4:54261130	PDGFRA	S54A, S29A, S42A	Gastrointestinal stroma tumor	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 217828774.	NM_006206.6(PDGFRA):c.49+11C>T GRCh37: Chr4:55124995 GRCh38: Chr4:54258828	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 217820375.	NM_003000.3(SDHB):c.72+13G>T GRCh37: Chr1:17380430 GRCh38: Chr1:17053935	LOC129929542, SDHB		Pheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 217680676.	NM_006206.6(PDGFRA):c.2757C>T (p.Asp919=) GRCh37: Chr4:55155048 GRCh38: Chr4:54288881	PDGFRA		Hereditary cancer-predisposing syndrome, Gastrointestinal stroma tumor	Likely benign (Jun 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217624277.	NM_003001.5(SDHC):c.316C>G (p.Leu106Val) GRCh37: Chr1:161326541 GRCh38: Chr1:161356751	SDHC	L53V, L106V, L70V, L69V, L72V, L146V, L85V, L87V	Gastrointestinal stroma tumor, Paragangliomas 3	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 217607278.	NM_006206.6(PDGFRA):c.808A>G (p.Lys270Glu) GRCh37: Chr4:55133504 GRCh38: Chr4:54267337	PDGFRA	K270E, K295E, K283E	Gastrointestinal stroma tumor	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 217493579.	NM_006206.6(PDGFRA):c.135T>C (p.Phe45=) GRCh37: Chr4:55127347 GRCh38: Chr4:54261180	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 217370680.	NM_006206.6(PDGFRA):c.959C>A (p.Thr320Asn) GRCh37: Chr4:55133746 GRCh38: Chr4:54267579	PDGFRA	T320N, T333N, T345N	Gastrointestinal stroma tumor	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 217345181.	NM_006206.6(PDGFRA):c.426T>G (p.Asp142Glu) GRCh37: Chr4:55129892 GRCh38: Chr4:54263725	PDGFRA	D155E, D142E, D167E	Gastrointestinal stroma tumor	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 217281082.	NM_006206.6(PDGFRA):c.875C>T (p.Ala292Val) GRCh37: Chr4:55133571 GRCh38: Chr4:54267404	PDGFRA	A292V, A305V, A317V	Gastrointestinal stroma tumor	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 217146683.	NM_006206.6(PDGFRA):c.2859G>T (p.Leu953=) GRCh37: Chr4:55155260 GRCh38: Chr4:54289093	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 217123784.	NM_006206.6(PDGFRA):c.2655C>T (p.Leu885=) GRCh37: Chr4:55153689 GRCh38: Chr4:54287522	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 217096685.	NM_003000.3(SDHB):c.541-17C>G GRCh37: Chr1:17350586 GRCh38: Chr1:17024091	SDHB		Pheochromocytoma, Paragangliomas 4, Gastrointestinal stroma tumor	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 217059686.	NM_006206.6(PDGFRA):c.2774+15C>T GRCh37: Chr4:55155080 GRCh38: Chr4:54288913	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 217003487.	NM_006206.6(PDGFRA):c.1559-16C>G GRCh37: Chr4:55140682 GRCh38: Chr4:54274515	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 216995988.	NM_000222.3(KIT):c.661T>G (p.Tyr221Asp) GRCh37: Chr4:55565837 GRCh38: Chr4:54699671	KIT	Y221D	Gastrointestinal stroma tumor	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 216973789.	NM_000222.3(KIT):c.128A>T (p.Lys43Ile) GRCh37: Chr4:55561738 GRCh38: Chr4:54695572	KIT	K43I	Gastrointestinal stroma tumor	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 216903090.	NM_006206.6(PDGFRA):c.2136T>C (p.Pro712=) GRCh37: Chr4:55144662 GRCh38: Chr4:54278495	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Jul 23, 2019)	criteria provided, single submitter
Select item 216891291.	NM_003001.5(SDHC):c.405+12C>A GRCh37: Chr1:161326642 GRCh38: Chr1:161356852	SDHC		Gastrointestinal stroma tumor, Paragangliomas 3	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 216840992.	NM_000222.3(KIT):c.756+12G>A GRCh37: Chr4:55565944 GRCh38: Chr4:54699778	KIT		Gastrointestinal stroma tumor	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 216767093.	NM_006206.6(PDGFRA):c.2324-20A>G GRCh37: Chr4:55151518 GRCh38: Chr4:54285351	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 216742794.	NM_000222.3(KIT):c.757-6C>G GRCh37: Chr4:55569884 GRCh38: Chr4:54703718	KIT		Gastrointestinal stroma tumor	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 216736295.	NM_006206.6(PDGFRA):c.1992C>T (p.Cys664=) GRCh37: Chr4:55144163 GRCh38: Chr4:54277996	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 216574996.	NM_006206.6(PDGFRA):c.1122-14C>T GRCh37: Chr4:55136786 GRCh38: Chr4:54270619	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 216497297.	NM_000222.3(KIT):c.1115+13C>G GRCh37: Chr4:55573466 GRCh38: Chr4:54707300	KIT		Gastrointestinal stroma tumor	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 216440698.	NM_006206.6(PDGFRA):c.2156+4G>C GRCh37: Chr4:55144686 GRCh38: Chr4:54278519	PDGFRA		Gastrointestinal stroma tumor	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 216435699.	NM_006206.6(PDGFRA):c.3150T>A (p.Ile1050=) GRCh37: Chr4:55161319 GRCh38: Chr4:54295152	PDGFRA		Gastrointestinal stroma tumor	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 2163749100.	NM_003001.5(SDHC):c.20+6T>A GRCh37: Chr1:161284221 GRCh38: Chr1:161314431	SDHC		Gastrointestinal stroma tumor, Paragangliomas 3	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter

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