ClinVar for MedGen (Select 896409) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2953404	NM_002609.4(PDGFRB):c.2184-7C>T	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2953253	NM_002609.4(PDGFRB):c.1176C>T (p.Gly392=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +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)	Acroosteolysis-keloid-like lesions-premature aging syndrome +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)	Acroosteolysis-keloid-like lesions-premature aging syndrome +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)	Acroosteolysis-keloid-like lesions-premature aging syndrome +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)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GBenign
Select item 2951084	NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)	PDGFRB (T538fs +2 more)	Duplication (frameshift variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +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)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GBenign
Select item 2949902	NM_002609.4(PDGFRB):c.364+15C>G	PDGFRB	Single nucleotide variant (intron variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +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)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2945939	NM_002609.4(PDGFRB):c.483C>T (p.His161=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Basal ganglia calcification, idiopathic, 4 +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)	not provided +4 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)	Infantile myofibromatosis +3 more	GUncertain significance
Select item 2944901	NM_002609.4(PDGFRB):c.2183+18A>G	PDGFRB	Single nucleotide variant (intron variant)	Infantile myofibromatosis +3 more	GLikely benign
Select item 2944704	NM_002609.4(PDGFRB):c.2905-1G>T	PDGFRB	Single nucleotide variant (splice acceptor variant)	Infantile myofibromatosis +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)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +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)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions 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)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2928903	NM_002609.4(PDGFRB):c.1497C>T (p.His499=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2928420	NM_002609.4(PDGFRB):c.285G>A (p.Thr95=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2928141	NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GBenign
Select item 2928117	NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)	PDGFRB (P732S +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2927536	NM_002609.4(PDGFRB):c.1566C>T (p.Ile522=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2927523	NM_002609.4(PDGFRB):c.360G>T (p.Val120=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2926188	NM_002609.4(PDGFRB):c.468G>A (p.Leu156=)	PDGFRB	Single nucleotide variant (synonymous variant +1 more)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +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 +4 more	GPathogenic/Likely pathogenic
Select item 2925255	NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2925007	NM_002609.4(PDGFRB):c.2586+20C>A	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +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)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2924347	NM_002609.4(PDGFRB):c.2070G>A (p.Val690=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2924289	NM_002609.4(PDGFRB):c.935-15G>A	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2924075	NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2923853	NM_002609.4(PDGFRB):c.2464-19C>G	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GBenign
Select item 2923793	NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2923780	NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)	PDGFRB (T431M +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2922941	NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +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 +4 more	GUncertain significance
Select item 2921815	NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)	PDGFRB (H265Q +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	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 2655905	NM_002609.4(PDGFRB):c.2667C>T (p.Phe889=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 2506282	NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)	PDGFRB (P427S +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 2423512	NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)	PDGFRB (P744L +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2418520	NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GLikely benign
Select item 2415805	NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)	PDGFRB (P20S +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2414151	NM_002609.4(PDGFRB):c.2905-8G>C	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2354029	NM_002609.4(PDGFRB):c.1189C>T (p.Arg397Trp)	PDGFRB (R333W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 2284348	NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)	PDGFRB (R209H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2262363	NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)	PDGFRB (V697I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2228308	NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)	PDGFRB (D770N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2202658	NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met)	PDGFRB (T564M +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2202027	NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)	PDGFRB (D821N +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2201438	NM_002609.4(PDGFRB):c.1913-10T>A	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2200482	NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2198615	NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2196788	NM_002609.4(PDGFRB):c.1913-16C>G	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GBenign
Select item 2195831	NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met)	PDGFRB (T320M +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2195813	NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2195709	NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg)	PDGFRB (G734R +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2195268	NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2194721	NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)	PDGFRB (Y753C +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2190056	NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile)	PDGFRB (L815I +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2187908	NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)	PDGFRB (R621H +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2187709	NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser)	PDGFRB (T128S +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2185246	NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2184028	NM_002609.4(PDGFRB):c.1244-5T>C	PDGFRB	Single nucleotide variant (intron variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2183043	NM_002609.4(PDGFRB):c.1302C>G (p.Val434=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2179200	NM_002609.4(PDGFRB):c.1127+17C>G	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2178345	NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)	PDGFRB (S587L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2164758	NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys)	PDGFRB (R209C +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2163327	NM_002609.4(PDGFRB):c.365-13C>T	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2162158	NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)	PDGFRB (R268W +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
Select item 2162093	NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His)	PDGFRB (D289H +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2159961	NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)	PDGFRB (A449T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance

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