"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "PD - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258779	NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +6 more	GBenign
Select item 258778	NM_002609.4(PDGFRB):c.3137+4A>G	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +6 more	GBenign
Select item 473406	NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)	PDGFRB (G1040V +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +5 more	GBenign/Likely benign
Select item 258777	NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +6 more	GBenign
Select item 258776	NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related condition +6 more	GBenign
Select item 286389	NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +7 more	GBenign/Likely benign
Select item 473404	NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +5 more	GBenign
Select item 473402	NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)	PDGFRB (E485K +2 more)	Single nucleotide variant (missense variant)	Myeloproliferative disorder, chronic, with eosinophilia +5 more	GBenign/Likely benign
Select item 473401	NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)	PDGFRB (T464M +2 more)	Single nucleotide variant (missense variant)	Myeloproliferative disorder, chronic, with eosinophilia +5 more	GBenign
Select item 473400	NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 377063	NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)	PDGFRB (P345S +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +5 more	GBenign/Likely benign
Select item 285888	NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)	PDGFRB (V316M +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis +6 more	GBenign/Likely benign
Select item 473407	NM_002609.4(PDGFRB):c.365-4G>T	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GBenign
Select item 473399	NM_002609.4(PDGFRB):c.102C>T (p.Val34=)	PDGFRB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +6 more	GBenign
Select item 258780	NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)	PDGFRB (I29F)	Single nucleotide variant (5 prime UTR variant +1 more)	PDGFRB-related condition +6 more	GBenign