ClinVar for MedGen (Select 116049) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247759	NC_000001.10:g.(?_161326447)_(161332223_?)dup	SDHC	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 3247758	NC_000001.10:g.(?_161310364)_(161332223_?)dup	SDHC	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 3247757	NC_000001.10:g.(?_161293384)_(161293480_?)dup	SDHC	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 3247756	NC_000001.10:g.(?_161284196)_(161284215_?)del	SDHC	Deletion	Paragangliomas 3 +1 more	GPathogenic
Select item 3247661	NC_000001.10:g.(?_17356590)_(17359633_?)del	SDHB	Deletion	Pheochromocytoma +2 more	GLikely pathogenic
Select item 3247660	NC_000001.10:g.(?_17345376)_(17359660_?)dup	SDHB	Duplication	Pheochromocytoma +2 more	GUncertain significance
Select item 3247659	NC_000001.10:g.(?_17354234)_(17371393_?)dup	SDHB	Duplication	Pheochromocytoma +2 more	GUncertain significance
Select item 3247658	NC_000001.10:g.(?_17371236)_(17380514_?)dup	SDHB	Duplication	Pheochromocytoma +2 more	GUncertain significance
Select item 3247656	NC_000001.10:g.(?_17371236)_(17371403_?)dup	SDHB	Duplication	Pheochromocytoma +2 more	GLikely pathogenic
Select item 3247655	NC_000001.10:g.(?_17380423)_(17380514_?)del	SDHB	Deletion	Pheochromocytoma +2 more	GPathogenic
Select item 3246597	NC_000004.11:g.(?_55129824)_(55161473_?)dup	PDGFRA	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 3246595	NC_000004.11:g.(?_55140988)_(55161439_?)dup	PDGFRA	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 3246594	NC_000004.11:g.(?_55094349)_(55604723_?)del	KIT, PDGFRA	Deletion	Gastrointestinal stromal tumor	GUncertain significance
Select item 3246593	NC_000004.11:g.(?_55569966)_(55570700_?)del	KIT	Deletion	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 3246592	NC_000004.11:g.(?_55573254)_(55604723_?)dup	KIT	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 3246591	NC_000004.11:g.(?_55602654)_(55604723_?)dup	KIT	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 3246590	NC_000004.11:g.(?_55602654)_(55604723_?)del	KIT	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3246589	NC_000004.11:g.(?_55522488)_(55524258_?)del	KIT	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3241799	NM_000222.3(KIT):c.577A>G (p.Lys193Glu)	KIT (K193E)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241798	NM_000222.3(KIT):c.190G>A (p.Val64Ile)	KIT (V64I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241797	NM_000222.3(KIT):c.1888C>T (p.His630Tyr)	KIT (H626Y +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241796	NM_000222.3(KIT):c.166C>A (p.Leu56Met)	KIT (L56M)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241795	NM_000222.3(KIT):c.1742A>C (p.Lys581Thr)	KIT (K577T +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241794	NM_000222.3(KIT):c.1401_1403del (p.Pro468del)	KIT (P468del +1 more)	Deletion (inframe_deletion)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241793	NM_000222.3(KIT):c.2879T>C (p.Val960Ala)	KIT (V955A +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241792	NM_000222.3(KIT):c.2887A>T (p.Thr963Ser)	KIT (T958S +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241791	NM_000222.3(KIT):c.2623G>A (p.Val875Ile)	KIT (V870I +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3241789	NM_000222.3(KIT):c.331G>A (p.Val111Ile)	KIT (V111I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3067845	NM_000222.3(KIT):c.1774+1G>T	KIT	Single nucleotide variant (splice donor variant)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 3065265	NM_000222.3(KIT):c.1823C>A (p.Ala608Asp)	KIT (A604D +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GLikely pathogenic
Select item 3065151	NM_000222.3(KIT):c.1820C>A (p.Thr607Asn)	KIT (T603N +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3024035	NM_000222.3(KIT):c.2411G>T (p.Arg804Leu)	KIT (R800L +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 3023080	NM_000222.3(KIT):c.667C>T (p.Leu223Phe)	KIT (L223F)	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 3021415	NM_000222.3(KIT):c.2233+19A>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
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 3018799	NM_000222.3(KIT):c.925+17G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3017652	NM_000222.3(KIT):c.338-7del	KIT	Deletion (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3017641	NM_000222.3(KIT):c.68-4G>A	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3017421	NM_000222.3(KIT):c.2790G>A (p.Glu930=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3016714	NM_000222.3(KIT):c.1569T>C (p.Thr523=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3016544	NM_000222.3(KIT):c.543G>A (p.Arg181=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3015352	NM_000222.3(KIT):c.2802+10C>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3014851	NM_000222.3(KIT):c.1146A>G (p.Leu382=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3014468	NM_000222.3(KIT):c.604del (p.Ile201_Leu202insTer)	KIT	Deletion (nonsense)	Gastrointestinal stromal tumor	GPathogenic
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 3012763	NM_000222.3(KIT):c.972T>C (p.Phe324=)	KIT	Single nucleotide variant (synonymous 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 3011051	NM_000222.3(KIT):c.903C>G (p.Val301=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3009981	NM_000222.3(KIT):c.2745A>T (p.Pro915=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 3008684	NM_000222.3(KIT):c.586C>A (p.Leu196Met)	KIT (L196M)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 3004710	NM_000222.3(KIT):c.2050A>G (p.Arg684Gly)	KIT (R684G +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
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 3001742	NM_000222.3(KIT):c.2117T>C (p.Leu706Pro)	KIT (L702P +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 3000623	NM_000222.3(KIT):c.1709A>G (p.Tyr570Cys)	KIT (Y566C +3 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2999051	NM_000222.3(KIT):c.1023C>G (p.Pro341=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2998613	NM_000222.3(KIT):c.437A>T (p.Tyr146Phe)	KIT (Y146F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2996310	NM_000222.3(KIT):c.1347-14T>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
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 2995642	NM_000222.3(KIT):c.2910_2911delinsAA (p.Leu971Ile)	KIT (L970I +5 more)	Indel (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2994335	NM_006206.6(PDGFRA):c.1365-9T>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2993847	NM_000222.3(KIT):c.1491G>C (p.Val497=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2989926	NM_000222.3(KIT):c.2597-7G>C	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2989677	NM_000222.3(KIT):c.1755C>T (p.Pro585=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2989466	NM_000222.3(KIT):c.756+16C>A	KIT	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 2988422	NM_000222.3(KIT):c.2177C>T (p.Pro726Leu)	KIT (P722L +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2987804	NM_000222.3(KIT):c.1648-15C>G	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
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 2986243	NM_000222.3(KIT):c.1115+17G>T	KIT	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2984097	NM_000222.3(KIT):c.653A>G (p.Lys218Arg)	KIT (K218R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2983559	NM_000222.3(KIT):c.114C>T (p.Ser38=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
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
Select item 2966138	NM_006206.6(PDGFRA):c.2448C>T (p.His816=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2963962	NM_000222.3(KIT):c.624C>G (p.Phe208Leu)	KIT (F208L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2962455	NM_000222.3(KIT):c.1474A>G (p.Lys492Glu)	KIT (K492E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2961119	NM_006206.6(PDGFRA):c.1474A>G (p.Lys492Glu)	PDGFRA (K492E +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2960381	NM_006206.6(PDGFRA):c.628+20C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2959884	NM_000222.3(KIT):c.1520C>T (p.Ala507Val)	KIT (A507V +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2957753	NM_000222.3(KIT):c.678G>T (p.Gly226=)	KIT	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2957653	NM_006206.6(PDGFRA):c.2323+8T>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign

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