PDGFRB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 1221159	NM_002609.4(PDGFRB):c.*73A>G	PDGFRB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1207572	NM_002609.4(PDGFRB):c.*40del	PDGFRB	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1182989	NM_002609.4(PDGFRB):c.*39C>G	PDGFRB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180277	NM_002609.4(PDGFRB):c.*39C>A	PDGFRB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 748062	NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 2153423	NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val)	PDGFRB (A1035V +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 1312455	NM_002609.4(PDGFRB):c.3295G>A (p.Ala1099Thr)	PDGFRB (A1035T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379023	NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp)	PDGFRB (R1098W +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GUncertain significance
Select item 2140980	NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related condition +4 more	GBenign/Likely benign
Select item 707132	NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)	PDGFRB (A1032V +2 more)	Single nucleotide variant (missense variant)	Myofibromatosis, infantile, 1 +6 more	GBenign/Likely benign
Select item 1959422	NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 1537825	NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GBenign
Select item 1975317	NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)	PDGFRB (S931L +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GConflicting classifications of pathogenicity
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 767571	NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GBenign
Select item 2265559	NM_002609.4(PDGFRB):c.3263dup (p.Leu1089fs)	PDGFRB (L1089fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1999371	NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)	PDGFRB	Insertion (inframe_insertion)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GUncertain significance
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 condition	GLikely benign
Select item 523454	NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys)	PDGFRB (E1081K +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +1 more	GUncertain significance
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 767315	NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)	PDGFRB	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1312456	NM_002609.4(PDGFRB):c.3196C>A (p.Pro1066Thr)	PDGFRB (P1002T +2 more)	Single nucleotide variant (missense variant)	not provided	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 2056802	NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)	PDGFRB (D900N +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2035755	NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 1306923	NM_002609.4(PDGFRB):c.3161C>G (p.Thr1054Ser)	PDGFRB (T1054S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2318256	NM_002609.4(PDGFRB):c.3149A>G (p.Asn1050Ser)	PDGFRB (N1050S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2057474	NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)	PDGFRB (S1047P +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +4 more	GUncertain significance
Select item 2108125	NM_002609.4(PDGFRB):c.3138-11C>G	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 1263033	NM_002609.4(PDGFRB):c.3138-28C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693084	NM_002609.4(PDGFRB):c.3138-60T>C	PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186363	NM_002609.4(PDGFRB):c.3138-91A>G	PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296913	NM_002609.4(PDGFRB):c.3138-97C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209500	NM_002609.4(PDGFRB):c.3138-115C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241268	NM_002609.4(PDGFRB):c.3138-261C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255044	NM_002609.4(PDGFRB):c.3137+226G>A	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223064	NM_002609.4(PDGFRB):c.3137+73GC[10]	PDGFRB	Microsatellite (intron variant)	not provided	GBenign
Select item 2443375	NM_002609.4(PDGFRB):c.3137+73GC[5]	PDGFRB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1300442	NM_002609.4(PDGFRB):c.3137+73GC[8]	PDGFRB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1232986	NM_002609.4(PDGFRB):c.3137+87G>A	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1341627	NM_002609.4(PDGFRB):c.3137+86C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194182	NM_002609.4(PDGFRB):c.3137+70_3137+83del	PDGFRB	Deletion (intron variant)	not provided	GLikely benign
Select item 1526365	NM_002609.4(PDGFRB):c.3137+72_3137+81del	PDGFRB	Deletion (intron variant)	not provided	GLikely benign
Select item 1304962	NM_002609.4(PDGFRB):c.3137+70_3137+81del	PDGFRB	Deletion (intron variant)	not provided	GBenign
Select item 1301512	NM_002609.4(PDGFRB):c.3137+81G>A	PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253174	NM_002609.4(PDGFRB):c.3137+81G>C	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223366	NM_002609.4(PDGFRB):c.3137+68_3137+81del	PDGFRB	Deletion (intron variant)	not provided	GBenign
Select item 1180028	NM_002609.4(PDGFRB):c.3137+80C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283159	NM_002609.4(PDGFRB):c.3137+64_3137+79del	PDGFRB	Deletion (intron variant)	not provided	GBenign
Select item 1290363	NM_002609.4(PDGFRB):c.3137+68_3137+77del	PDGFRB	Deletion (intron variant)	not provided	GBenign
Select item 1283966	NM_002609.4(PDGFRB):c.3137+70_3137+77del	PDGFRB	Deletion (intron variant)	not provided	GBenign
Select item 1204077	NM_002609.4(PDGFRB):c.3137+72_3137+77del	PDGFRB	Deletion (intron variant)	not provided	GLikely benign
Select item 1265742	NM_002609.4(PDGFRB):c.3137+75_3137+76insGT	PDGFRB	Insertion (intron variant)	not provided	GBenign
Select item 1190878	NM_002609.4(PDGFRB):c.3137+76C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309114	NM_002609.4(PDGFRB):c.3137+40TG[19]	PDGFRB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1281161	NM_002609.4(PDGFRB):c.3137+74C>T	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265344	NM_002609.4(PDGFRB):c.3137+40TG[18]	PDGFRB	Microsatellite (intron variant)	not provided	GBenign
Select item 1290674	NM_002609.4(PDGFRB):c.3137+40TG[15]	PDGFRB	Microsatellite (intron variant)	not provided	GBenign
Select item 1278492	NM_002609.4(PDGFRB):c.3137+71_3137+72insGC	PDGFRB	Insertion (intron variant)	not provided	GBenign
Select item 1221435	NM_002609.4(PDGFRB):c.3137+68T>C	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233927	NM_002609.4(PDGFRB):c.3137+48T>C	PDGFRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2061330	NM_002609.4(PDGFRB):c.3137+15C>T	PDGFRB	Single nucleotide variant (intron variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 1645689	NM_002609.4(PDGFRB):c.3137+13G>T	PDGFRB	Single nucleotide variant (intron variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 3029454	NM_002609.4(PDGFRB):c.3137+10C>T	PDGFRB	Single nucleotide variant (intron variant)	PDGFRB-related condition	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 2045407	NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
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 1585392	NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=)	PDGFRB	Single nucleotide variant (synonymous variant)	Basal ganglia calcification, idiopathic, 4 +3 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 1670396	NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GLikely benign
Select item 2046170	NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn)	PDGFRB (D859N +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 2923793	NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related condition +4 more	GLikely benign
Select item 3030461	NM_002609.4(PDGFRB):c.3039G>A (p.Gln1013=)	PDGFRB	Single nucleotide variant (synonymous variant)	PDGFRB-related condition	GLikely benign
Select item 712778	NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +4 more	GLikely benign
Select item 2247821	NM_002609.4(PDGFRB):c.3032C>A (p.Ala1011Asp)	PDGFRB (A850D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1170638	NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GBenign
Select item 1713491	NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)	PDGFRB (T1010I +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +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 2012023	NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)	PDGFRB	Single nucleotide variant (synonymous variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +3 more	GBenign
Select item 1304018	NM_002609.4(PDGFRB):c.3011C>T (p.Thr1004Ile)	PDGFRB (T1004I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2499379	NM_002609.4(PDGFRB):c.2996G>C (p.Arg999Pro)	PDGFRB (R838P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059001	NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GLikely benign
Select item 783158	NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)	PDGFRB (R927H +2 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 4 +3 more	GLikely benign
Select item 2065779	NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)	PDGFRB (R991C +2 more)	Single nucleotide variant (missense variant)	Acroosteolysis-keloid-like lesions-premature aging syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2139370	NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=)	PDGFRB	Single nucleotide variant (synonymous variant)	Infantile myofibromatosis +3 more	GLikely benign
Select item 733483	NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)	PDGFRB (R826Q +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 39589	NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)	PDGFRB (R987W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505515	NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr)	PDGFRB (I824T +2 more)	Single nucleotide variant (missense variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +3 more	GUncertain significance
Select item 576602	NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)	PDGFRB (S980N +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 252609	NM_002609.4(PDGFRB):c.2938A>C (p.Ser980Arg)	PDGFRB (S980R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430592	NM_002609.4(PDGFRB):c.2927A>T (p.Glu976Val)	PDGFRB (E815V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785900	NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)	PDGFRB	Single nucleotide variant (synonymous variant)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +4 more	GLikely benign
Select item 2281052	NM_002609.4(PDGFRB):c.2914C>A (p.Gln972Lys)	PDGFRB (Q972K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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