5156[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
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 57309	GRCh38/hg38 4q12(chr4:51870025-55102392)x1	CHIC2, DANCR +65 more	Copy number loss	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	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 348889	NM_006206.5(PDGFRA):c.-318G>A	PDGFRA	Single nucleotide variant	Idiopathic hypereosinophilic syndrome +1 more	GUncertain significance
Select item 348891	NM_006206.5(PDGFRA):c.-284G>T	PDGFRA	Single nucleotide variant	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 348890	NM_006206.5(PDGFRA):c.-284G>A	PDGFRA	Single nucleotide variant	Idiopathic hypereosinophilic syndrome +2 more	GBenign/Likely benign
Select item 348892	NM_006206.5(PDGFRA):c.-170C>T	PDGFRA	Single nucleotide variant	Gastrointestinal stromal tumor +1 more	GBenign/Likely benign
Select item 348893	NM_006206.6(PDGFRA):c.-106AG[1]	PDGFRA	Microsatellite (5 prime UTR variant)	not provided +2 more	GBenign
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 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 2631965	NM_006206.6(PDGFRA):c.-13+5069G>A	PDGFRA (E5K)	Single nucleotide variant (missense variant +1 more)	PDGFRA-related disorder	GUncertain significance
Select item 3348754	NM_006206.6(PDGFRA):c.-13+5080G>A	PDGFRA	Single nucleotide variant (synonymous variant +1 more)	PDGFRA-related disorder	GLikely benign
Select item 3032962	NM_006206.6(PDGFRA):c.-13+10673A>G	PDGFRA	Single nucleotide variant (synonymous variant +1 more)	PDGFRA-related disorder	GLikely benign
Select item 3031822	NM_006206.6(PDGFRA):c.-13+10679C>T	PDGFRA	Single nucleotide variant (synonymous variant +1 more)	PDGFRA-related disorder	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 655231	NC_000004.11:g.(?_55124926)_(55161449_?)dup	LOC126807054, PDGFRA	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 584302	NC_000004.11:g.(?_55124926)_(55151663_?)dup	LOC126807054, PDGFRA	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 458847	NC_000004.11:g.(?_55124930)_(55161445_?)dup	LOC126807054, PDGFRA	Duplication	Gastrointestinal stromal tumor	GUncertain significance
Select item 825355	NM_006206.6(PDGFRA):c.-4A>T	PDGFRA (R24S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2849638	NM_006206.6(PDGFRA):c.1A>T (p.Met1Leu)	PDGFRA (M26L +2 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2808820	NM_006206.6(PDGFRA):c.1A>G (p.Met1Val)	PDGFRA (M26V +2 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal stromal tumor	GUncertain significance
Select item 839215	NM_006206.6(PDGFRA):c.2T>G (p.Met1Arg)	PDGFRA (M14R +2 more)	Single nucleotide variant (missense variant +1 more)	Gastrointestinal stromal tumor	GUncertain significance
Select item 844786	NM_006206.6(PDGFRA):c.4G>A (p.Gly2Arg)	PDGFRA (G27R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	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 1366070	NM_006206.6(PDGFRA):c.5G>A (p.Gly2Glu)	PDGFRA (G2E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1998146	NM_006206.6(PDGFRA):c.6G>T (p.Gly2=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1765419	NM_006206.6(PDGFRA):c.8C>G (p.Thr3Ser)	PDGFRA (T16S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 2587729	NM_006206.6(PDGFRA):c.9T>A (p.Thr3=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1464602	NM_006206.6(PDGFRA):c.9T>C (p.Thr3=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1995404	NM_006206.6(PDGFRA):c.10T>G (p.Ser4Ala)	PDGFRA (S17A +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 581334	NM_006206.6(PDGFRA):c.11C>A (p.Ser4Tyr)	PDGFRA (S4Y +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +1 more	GUncertain significance
Select item 528570	NM_006206.6(PDGFRA):c.11C>G (p.Ser4Cys)	PDGFRA (S4C +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 458990	NM_006206.6(PDGFRA):c.11C>T (p.Ser4Phe)	PDGFRA (S4F +2 more)	Single nucleotide variant (missense variant)	Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal +2 more	GUncertain significance
Select item 1127924	NM_006206.6(PDGFRA):c.12C>T (p.Ser4=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
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 2880760	NM_006206.6(PDGFRA):c.14A>C (p.His5Pro)	PDGFRA (H30P +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 854300	NM_006206.6(PDGFRA):c.14A>G (p.His5Arg)	PDGFRA (H30R +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1131604	NM_006206.6(PDGFRA):c.15T>C (p.His5=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
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 2100803	NM_006206.6(PDGFRA):c.18G>T (p.Pro6=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 459032	NM_006206.6(PDGFRA):c.18G>A (p.Pro6=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 414506	NM_006206.6(PDGFRA):c.18G>C (p.Pro6=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 528538	NM_006206.6(PDGFRA):c.20C>A (p.Ala7Glu)	PDGFRA (A7E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 240325	NM_006206.6(PDGFRA):c.20C>T (p.Ala7Val)	PDGFRA (A7V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 760715	NM_006206.6(PDGFRA):c.21G>C (p.Ala7=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 459046	NM_006206.6(PDGFRA):c.21G>A (p.Ala7=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1497193	NM_006206.6(PDGFRA):c.25C>G (p.Leu9Val)	PDGFRA (L22V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	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 951927	NM_006206.6(PDGFRA):c.26T>C (p.Leu9Pro)	PDGFRA (L34P +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 407441	NM_006206.6(PDGFRA):c.28G>A (p.Val10Ile)	PDGFRA (V10I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1477342	NM_006206.6(PDGFRA):c.29T>C (p.Val10Ala)	PDGFRA (V23A +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1126944	NM_006206.6(PDGFRA):c.30C>G (p.Val10=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +1 more	GLikely benign
Select item 1151430	NM_006206.6(PDGFRA):c.33A>G (p.Leu11=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2749610	NM_006206.6(PDGFRA):c.34G>A (p.Gly12Ser)	PDGFRA (G37S +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1717948	NM_006206.6(PDGFRA):c.35G>T (p.Gly12Val)	PDGFRA (G12V +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1036092	NM_006206.6(PDGFRA):c.35G>C (p.Gly12Ala)	PDGFRA (G12A +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GConflicting classifications of pathogenicity
Select item 1664021	NM_006206.6(PDGFRA):c.36C>T (p.Gly12=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1016125	NM_006206.6(PDGFRA):c.40C>A (p.Leu14Ile)	PDGFRA (L14I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 855876	NM_006206.6(PDGFRA):c.40C>T (p.Leu14Phe)	PDGFRA (L27F +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 1915472	NM_006206.6(PDGFRA):c.42T>C (p.Leu14=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 647687	NM_006206.6(PDGFRA):c.43C>T (p.Leu15Phe)	PDGFRA (L28F +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 969566	NM_006206.6(PDGFRA):c.44T>C (p.Leu15Pro)	PDGFRA (L15P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 945601	NM_006206.6(PDGFRA):c.47C>T (p.Thr16Ile)	PDGFRA (T16I +2 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 859981	NM_006206.6(PDGFRA):c.48A>G (p.Thr16=)	PDGFRA	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2101503	NM_006206.6(PDGFRA):c.49+1G>T	PDGFRA	Single nucleotide variant (splice donor variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2892000	NM_006206.6(PDGFRA):c.49+5_49+6dup	PDGFRA	Duplication (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 240351	NM_006206.6(PDGFRA):c.49+4C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 459104	NM_006206.6(PDGFRA):c.49+5G>A	PDGFRA	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 459105	NM_006206.6(PDGFRA):c.49+8G>A	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 753831	NM_006206.6(PDGFRA):c.49+9C>A	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 459106	NM_006206.6(PDGFRA):c.49+9C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2005123	NM_006206.6(PDGFRA):c.49+10C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2178287	NM_006206.6(PDGFRA):c.49+11C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1634837	NM_006206.6(PDGFRA):c.49+12A>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1566202	NM_006206.6(PDGFRA):c.49+12A>G	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2004173	NM_006206.6(PDGFRA):c.49+13G>A	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1542271	NM_006206.6(PDGFRA):c.49+16_49+41del	PDGFRA	Deletion (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2143490	NM_006206.6(PDGFRA):c.49+15C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2148571	NM_006206.6(PDGFRA):c.49+16C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2137918	NM_006206.6(PDGFRA):c.49+18C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2745277	NM_006206.6(PDGFRA):c.49+20C>G	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1288677	NM_006206.6(PDGFRA):c.49+74A>T	PDGFRA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2694730	NM_006206.6(PDGFRA):c.50-19A>G	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2858194	NM_006206.6(PDGFRA):c.50-18G>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1616081	NM_006206.6(PDGFRA):c.50-18G>A	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1587538	NM_006206.6(PDGFRA):c.50-17C>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1617323	NM_006206.6(PDGFRA):c.50-16G>C	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 1577098	NM_006206.6(PDGFRA):c.50-16G>A	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign
Select item 2116688	NM_006206.6(PDGFRA):c.50-14G>T	PDGFRA	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GLikely benign

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