"PreventionGenetics, part of Exact Sciences"[submitter] AND "PDGFRB"[g - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2140980	NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +4 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 3043773	NM_002609.4(PDGFRB):c.3246G>A (p.Pro1082=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder	GLikely benign
Select item 3029454	NM_002609.4(PDGFRB):c.3137+10C>T	PDGFRB	Single nucleotide variant (intron variant)	PDGFRB-related disorder	GLikely benign
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 2923793	NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +4 more	GLikely benign
Select item 3030461	NM_002609.4(PDGFRB):c.3039G>A (p.Gln1013=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder	GLikely benign
Select item 712778	NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GLikely benign
Select item 712779	NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GLikely benign
Select item 733483	NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)	PDGFRB (R826Q +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder +5 more	GBenign/Likely benign
Select item 2444604	NM_002609.4(PDGFRB):c.2875G>A (p.Glu959Lys)	PDGFRB (E798K +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder +1 more	GUncertain significance
Select item 2059038	NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)	PDGFRB (S952C +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 540601	NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +5 more	GBenign/Likely benign
Select item 2655905	NM_002609.4(PDGFRB):c.2667C>T (p.Phe889=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 473405	NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +4 more	GBenign/Likely benign
Select item 258776	NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +6 more	GBenign
Select item 286389	NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +7 more	GBenign/Likely benign
Select item 3032356	NM_002609.4(PDGFRB):c.2493C>T (p.Asn831=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder	GLikely benign
Select item 3035485	NM_002609.4(PDGFRB):c.2379C>T (p.Asn793=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder	GLikely benign
Select item 2628796	NM_002609.4(PDGFRB):c.2366C>T (p.Ala789Val)	PDGFRB (A628V +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder	GUncertain significance
Select item 736581	NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GLikely benign
Select item 540599	NM_002609.4(PDGFRB):c.2023+5C>T	PDGFRB	Single nucleotide variant (intron variant)	PDGFRB-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3030039	NM_002609.4(PDGFRB):c.1913-10T>C	PDGFRB	Single nucleotide variant (intron variant)	PDGFRB-related disorder	GLikely benign
Select item 1463139	NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys)	PDGFRB (R604C +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GUncertain significance
Select item 1005357	NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)	PDGFRB (E402K +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GUncertain significance
Select item 2630983	NM_002609.4(PDGFRB):c.1611_1618delinsTCAGGGTGATCTCA (p.Ile538_Ala540delinsGlnGlyAspLeuThr)	PDGFRB	Indel (inframe_indel)	PDGFRB-related disorder	GUncertain significance
Select item 2925255	NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +4 more	GLikely benign
Select item 772148	NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GBenign/Likely benign
Select item 1091364	NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +5 more	GLikely benign
Select item 2151826	NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)	PDGFRB (R432H +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 540600	NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)	PDGFRB (V491A +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder +4 more	GLikely benign
Select item 2635315	NM_002609.4(PDGFRB):c.1456G>A (p.Glu486Lys)	PDGFRB (E325K +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder	GUncertain significance
Select item 2635833	NM_002609.4(PDGFRB):c.1411G>A (p.Glu471Lys)	PDGFRB (E310K +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder	GUncertain significance
Select item 3053349	NM_002609.4(PDGFRB):c.1368-10C>T	PDGFRB	Single nucleotide variant (intron variant)	PDGFRB-related disorder	GLikely benign
Select item 766771	NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)	PDGFRB (P427S +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 708187	NM_002609.4(PDGFRB):c.1243+4A>T	PDGFRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 707343	NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys)	PDGFRB (S247C +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GBenign/Likely benign
Select item 2046178	NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +4 more	GBenign/Likely benign
Select item 473400	NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +6 more	GBenign/Likely benign
Select item 3032332	NM_002609.4(PDGFRB):c.1021dup (p.Glu341fs)	PDGFRB (E180fs +2 more)	Duplication (frameshift variant)	PDGFRB-related disorder	GUncertain significance
Select item 2655910	NM_002609.4(PDGFRB):c.1000C>T (p.Arg334Trp)	PDGFRB (R173W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1080893	NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder +4 more	GLikely benign
Select item 3057699	NM_002609.4(PDGFRB):c.780G>A (p.Pro260=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder	GLikely benign
Select item 2629650	NM_002609.4(PDGFRB):c.631+11T>C	PDGFRB (L42P)	Single nucleotide variant (missense variant +1 more)	PDGFRB-related disorder	GUncertain significance
Select item 772509	NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)	PDGFRB (R133K +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +5 more	GBenign
Select item 707690	NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)	PDGFRB (I194T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 2144767	NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)	PDGFRB (G117A +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1167104	NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Basal ganglia calcification, idiopathic, 4 +4 more	GBenign
Select item 728357	NM_002609.4(PDGFRB):c.330C>T (p.Thr110=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	PDGFRB-related disorder +4 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)	Acroosteolysis-keloid-like lesions-premature aging syndrome +5 more	GLikely benign
Select item 3041297	NM_002609.4(PDGFRB):c.252G>A (p.Val84=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	PDGFRB-related disorder	GLikely benign
Select item 2041587	NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)	PDGFRB (V20M +1 more)	Single nucleotide variant (missense variant +1 more)	PDGFRB-related disorder +4 more	GBenign/Likely benign
Select item 809828	NM_002609.4(PDGFRB):c.141C>T (p.Ser47=)	PDGFRB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 3042495	NM_002609.4(PDGFRB):c.111C>A (p.Pro37=)	PDGFRB	Single nucleotide variant (5 prime UTR variant +1 more)	PDGFRB-related disorder	GLikely benign
Select item 473399	NM_002609.4(PDGFRB):c.102C>T (p.Val34=)	PDGFRB	Single nucleotide variant (5 prime UTR variant +1 more)	PDGFRB-related disorder +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)	Acroosteolysis-keloid-like lesions-premature aging syndrome +6 more	GBenign
Select item 3054608	NM_002609.4(PDGFRB):c.51G>A (p.Leu17=)	PDGFRB	Single nucleotide variant (5 prime UTR variant +1 more)	PDGFRB-related disorder	GLikely benign
Select item 1586531	NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val)	PDGFRB (A6V)	Single nucleotide variant (5 prime UTR variant +2 more)	PDGFRB-related disorder +5 more	GLikely benign
Select item 2635001	NM_002609.4(PDGFRB):c.11C>A (p.Pro4Gln)	PDGFRB (P4Q)	Single nucleotide variant (5 prime UTR variant +2 more)	PDGFRB-related disorder	GUncertain significance

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Items: 60