"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707132	NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)	PDGFRB (A1032V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GBenign/Likely benign
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)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +6 more	GBenign
Select item 258777	NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +6 more	GBenign
Select item 712779	NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +4 more	GLikely benign
Select item 540601	NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +5 more	GBenign/Likely benign
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)	PDGFRB-related condition +7 more	GBenign/Likely benign
Select item 715215	NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GConflicting classifications of pathogenicity
Select item 473404	NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 1209893	NM_002609.4(PDGFRB):c.1574C>T (p.Pro525Leu)	PDGFRB (P364L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 473403	NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)	PDGFRB (R502Q +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +4 more	GBenign
Select item 473402	NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)	PDGFRB (E485K +2 more)	Single nucleotide variant (missense variant)	not provided +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)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +5 more	GBenign
Select item 473400	NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related condition +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)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions 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)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +6 more	GBenign/Likely benign
Select item 1206371	NM_002609.4(PDGFRB):c.899A>G (p.His300Arg)	PDGFRB (H139R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 707690	NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)	PDGFRB (I194T +1 more)	Single nucleotide variant (missense variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +5 more	GBenign/Likely benign
Select item 1299791	NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn)	PDGFRB (D111N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 772270	NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)	PDGFRB (T88I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GLikely benign
Select item 1210073	NM_002609.4(PDGFRB):c.255C>T (p.Leu85=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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Items: 23