ClinVar for Gene (Select 5159) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242267	NM_002609.4(PDGFRB):c.2668G>C (p.Gly890Arg)	PDGFRB (G729R +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome	GUncertain significance
Select item 3237452	NM_002609.4(PDGFRB):c.1636A>G (p.Ile546Val)	PDGFRB (I385V +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	GUncertain significance
Select item 3210845	NM_002609.4(PDGFRB):c.5G>A (p.Arg2Gln)	PDGFRB (R2Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3210844	NM_002609.4(PDGFRB):c.598G>A (p.Asp200Asn)	PDGFRB (W27* +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3210843	NM_002609.4(PDGFRB):c.2716G>C (p.Glu906Gln)	PDGFRB (E745Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210842	NM_002609.4(PDGFRB):c.2285A>G (p.Lys762Arg)	PDGFRB (K601R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210841	NM_002609.4(PDGFRB):c.1886T>C (p.Met629Thr)	PDGFRB (M629T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210840	NM_002609.4(PDGFRB):c.1463A>T (p.Glu488Val)	PDGFRB (E327V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210839	NM_002609.4(PDGFRB):c.1001G>A (p.Arg334Gln)	PDGFRB (R173Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3063652	NM_002609.4(PDGFRB):c.2029A>G (p.Ile677Val)	PDGFRB (I516V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3053349	NM_002609.4(PDGFRB):c.1368-10C>T	PDGFRB	Single nucleotide variant (intron variant)	PDGFRB-related disorder	GLikely benign
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 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 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 3035485	NM_002609.4(PDGFRB):c.2379C>T (p.Asn793=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related disorder	GLikely 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 3032332	NM_002609.4(PDGFRB):c.1021dup (p.Glu341fs)	PDGFRB (E180fs +2 more)	Duplication (frameshift variant)	PDGFRB-related disorder	GUncertain significance
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 3030039	NM_002609.4(PDGFRB):c.1913-10T>C	PDGFRB	Single nucleotide variant (intron 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 2953404	NM_002609.4(PDGFRB):c.2184-7C>T	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2953253	NM_002609.4(PDGFRB):c.1176C>T (p.Gly392=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2953156	NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)	PDGFRB (D688H +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2952521	NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)	PDGFRB (V353M +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2952092	NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)	PDGFRB (P205A +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2951939	NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)	PDGFRB (T357M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2951838	NM_002609.4(PDGFRB):c.1368-14G>A	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GBenign
Select item 2951084	NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)	PDGFRB (T538fs +2 more)	Duplication (frameshift variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2950721	NM_002609.4(PDGFRB):c.11C>T (p.Pro4Leu)	PDGFRB (P4L)	Single nucleotide variant (5 prime UTR variant +2 more)	Basal ganglia calcification, idiopathic, 4 +3 more	GBenign
Select item 2949902	NM_002609.4(PDGFRB):c.364+15C>G	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2949487	NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)	PDGFRB (V125M +1 more)	Single nucleotide variant (missense variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2949137	NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)	PDGFRB (L293F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2946473	NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)	PDGFRB (R86Q +1 more)	Single nucleotide variant (missense variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2945939	NM_002609.4(PDGFRB):c.483C>T (p.His161=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2945938	NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)	PDGFRB (R49W +1 more)	Single nucleotide variant (missense variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2945538	NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)	PDGFRB (V107F +1 more)	Single nucleotide variant (missense variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2944901	NM_002609.4(PDGFRB):c.2183+18A>G	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2944704	NM_002609.4(PDGFRB):c.2905-1G>T	PDGFRB	Single nucleotide variant (splice acceptor variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2942656	NM_002609.4(PDGFRB):c.48G>A (p.Leu16=)	PDGFRB	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2940237	NM_002609.4(PDGFRB):c.4C>T (p.Arg2Trp)	PDGFRB (R2W)	Single nucleotide variant (5 prime UTR variant +2 more)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2939246	NM_002609.4(PDGFRB):c.1367+20A>G	PDGFRB	Single nucleotide variant (intron variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2939068	NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)	PDGFRB (V697L +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GUncertain significance
Select item 2938937	NM_002609.4(PDGFRB):c.2183+19G>A	PDGFRB	Single nucleotide variant (intron variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2938261	NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)	PDGFRB (V386L +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GUncertain significance
Select item 2937893	NM_002609.4(PDGFRB):c.1494G>A (p.Gln498=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2937686	NM_002609.4(PDGFRB):c.2394A>C (p.Leu798=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2937329	NM_002609.4(PDGFRB):c.935-9C>T	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2936374	NM_002609.4(PDGFRB):c.2798+10G>A	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2936098	NM_002609.4(PDGFRB):c.935-5T>C	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2935913	NM_002609.4(PDGFRB):c.1675-4C>T	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2935862	NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)	PDGFRB (S667A +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2935583	NM_002609.4(PDGFRB):c.3026A>G (p.Tyr1009Cys)	PDGFRB (Y1009C +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2935476	NM_002609.4(PDGFRB):c.462A>G (p.Pro154=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2934915	NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)	PDGFRB (E121K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2934834	NM_002609.4(PDGFRB):c.1253G>A (p.Arg418Gln)	PDGFRB (R257Q +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2933154	NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)	PDGFRB (P154R +1 more)	Single nucleotide variant (missense variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2930991	NM_002609.4(PDGFRB):c.3187C>A (p.Pro1063Thr)	PDGFRB (P999T +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2930856	NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)	PDGFRB (S1092T +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GUncertain significance
Select item 2929326	NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)	PDGFRB (R447C +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis +3 more	GUncertain significance
Select item 2928903	NM_002609.4(PDGFRB):c.1497C>T (p.His499=)	PDGFRB	Single nucleotide variant (synonymous variant)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2928420	NM_002609.4(PDGFRB):c.285G>A (p.Thr95=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2928141	NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)	PDGFRB	Single nucleotide variant (synonymous variant)	Infantile myofibromatosis +3 more	GBenign
Select item 2928117	NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)	PDGFRB (P732S +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis +3 more	GUncertain significance
Select item 2927921	NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)	PDGFRB (R64Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Infantile myofibromatosis +3 more	GUncertain significance
Select item 2927640	NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)	PDGFRB (P184L +2 more)	Single nucleotide variant (missense variant)	Infantile myofibromatosis +3 more	GUncertain significance
Select item 2927536	NM_002609.4(PDGFRB):c.1566C>T (p.Ile522=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2927523	NM_002609.4(PDGFRB):c.360G>T (p.Val120=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2927478	NM_002609.4(PDGFRB):c.370A>G (p.Thr124Ala)	PDGFRB (T124A +1 more)	Single nucleotide variant (missense variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2926309	NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)	PDGFRB (A302T +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2926188	NM_002609.4(PDGFRB):c.468G>A (p.Leu156=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2926108	NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)	PDGFRB (T528K +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2925384	NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)	PDGFRB (P560L +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GPathogenic
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 2925007	NM_002609.4(PDGFRB):c.2586+20C>A	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2924697	NM_002609.4(PDGFRB):c.3205G>A (p.Glu1069Lys)	PDGFRB (E1069K +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2924347	NM_002609.4(PDGFRB):c.2070G>A (p.Val690=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2924289	NM_002609.4(PDGFRB):c.935-15G>A	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2924075	NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2923853	NM_002609.4(PDGFRB):c.2464-19C>G	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 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 2923780	NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)	PDGFRB (T431M +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2922941	NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GBenign
Select item 2922854	NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)	PDGFRB (E633K +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2921815	NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)	PDGFRB (H265Q +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2673033	NM_002609.4(PDGFRB):c.151G>A (p.Val51Ile)	PDGFRB (V51I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2655911	NM_002609.4(PDGFRB):c.373G>T (p.Val125Leu)	PDGFRB (V125L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2655909	NM_002609.4(PDGFRB):c.1052T>A (p.Phe351Tyr)	PDGFRB (F190Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655908	NM_002609.4(PDGFRB):c.1700A>G (p.Lys567Arg)	PDGFRB (K406R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655907	NM_002609.4(PDGFRB):c.1788G>A (p.Pro596=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 2655906	NM_002609.4(PDGFRB):c.1950G>A (p.Ser650=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 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 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 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
Select item 2630983	NM_002609.4(PDGFRB):c.1611_1618delinsTCAGGGTGATCTCA (p.Ile538_Ala540delinsGlnGlyAspLeuThr)	PDGFRB	Indel (inframe_indel)	PDGFRB-related disorder	GUncertain significance
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 2628796	NM_002609.4(PDGFRB):c.2366C>T (p.Ala789Val)	PDGFRB (A628V +2 more)	Single nucleotide variant (missense variant)	PDGFRB-related disorder	GUncertain significance

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