Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=) | 5159 | PDGFRB | Likely benign | 376978985 | RCV002544972|RCV003424476; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149495350 | 149495350 | | | 5:g.149495350C>T | - | | | NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val) | 5159 | PDGFRB | Likely benign | -1 | RCV003077606; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149495351 | 149495351 | | | NC_000005.9:g.149495351G>A | - | | | NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp) | 5159 | PDGFRB | Uncertain significance | 267600485 | RCV001891892; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149495355 | 149495355 | | | 149495355 | - | | | NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=) | 5159 | PDGFRB | Benign | -1 | RCV003056723; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149495359 | 149495359 | | | | - | | | NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) | 5159 | PDGFRB | Benign/Likely benign | 114435947 | RCV000878003|RCV000987618|RCV001573574|RCV002540033; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149495360 | 149495360 | | | 5:g.149495360G>A | - | | | NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=) | 5159 | PDGFRB | Likely benign | -1 | RCV002701272; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149495368 | 149495368 | | | | - | | | NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=) | 5159 | PDGFRB | Benign | 774197688 | RCV002092779; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149495371 | 149495371 | | | 149495371 | - | | | NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV002755619|RCV003167702; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149495372 | 149495372 | | | NC_000005.9:g.149495372G>A | - | | | NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) | 5159 | PDGFRB | Benign | 183852315 | RCV000946344; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149495377 | 149495377 | | | 5:g.149495377C>T | - | | | NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002819553; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149495390 | 149495391 | | | NC_000005.9:g.149495394_149495395insCGGCTC | - | | | NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) | 5159 | PDGFRB | Benign | 246388 | RCV000241889|RCV001517683|RCV001689837|RCV001788116|RCV001788115|RCV001788117|RCV003316401; | N | MedGen:CN169374|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149495395 | 149495395 | | | NC_000005.9:g.149495395T>C | ClinGen:CA3507370 | CN169374 not specified; | | NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) | 5159 | PDGFRB | Likely benign | 141511317 | RCV000946024|RCV003424486; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149495443 | 149495443 | | | 5:g.149495443G>A | - | | | NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV002923028|RCV003250622; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149495466 | 149495466 | | | NC_000005.9:g.149495466C>T | - | | | NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=) | 5159 | PDGFRB | Likely benign | -1 | RCV002894449; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149495482 | 149495482 | | | | - | | | NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=) | 5159 | PDGFRB | Likely benign | -1 | RCV002654733; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149495502 | 149495502 | | | | - | | | NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002923379|RCV002923378|RCV003458249; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C422527 | 5 | 149495508 | 149495508 | | | NC_000005.9:g.149495508A>G | - | | | NM_002609.4(PDGFRB):c.3138-11C>G | 5159 | PDGFRB | Likely benign | -1 | RCV003017583; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149495520 | 149495520 | | | NC_000005.9:g.149495520G>C | - | | | NM_002609.4(PDGFRB):c.3137+15C>T | 5159 | PDGFRB | Likely benign | -1 | RCV002942641; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497166 | 149497166 | | | NC_000005.9:g.149497166G>A | - | | | NM_002609.4(PDGFRB):c.3137+13G>T | 5159 | PDGFRB | Likely benign | 2113883431 | RCV002144040; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149497168 | 149497168 | | | 149497168 | - | | | NM_002609.4(PDGFRB):c.3137+4A>G | 5159 | PDGFRB | Benign | 246391 | RCV000251507|RCV001517684|RCV001610630|RCV001788112|RCV001788113|RCV001788114|RCV003316400; | N | MedGen:CN169374|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149497177 | 149497177 | | | NC_000005.9:g.149497177T>C | ClinGen:CA3507428 | CN169374 not specified; | | NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=) | 5159 | PDGFRB | Likely benign | -1 | RCV002918160; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497192 | 149497192 | | | | - | | | NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) | 5159 | PDGFRB | Benign/Likely benign | 149417689 | RCV000525984|RCV001565252|RCV003316726; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149497199 | 149497199 | | | 5:g.149497199C>A | ClinGen:CA3507432 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=) | 5159 | PDGFRB | Benign | 569140859 | RCV002095368; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497216 | 149497216 | | | 149497216 | - | | | NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) | 5159 | PDGFRB | Benign | 2228440 | RCV000246961|RCV001515545|RCV001788110|RCV001707588|RCV001788111|RCV001788109|RCV003316399; | N | MedGen:CN169374|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149497228 | 149497228 | | | NC_000005.9:g.149497228G>A | ClinGen:CA3507436 | CN169374 not specified; | | NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=) | 5159 | PDGFRB | Likely benign | 2113883671 | RCV002203687; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497249 | 149497249 | | | 149497249 | - | | | NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn) | 5159 | PDGFRB | Likely benign | -1 | RCV002913496; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497260 | 149497260 | | | NC_000005.9:g.149497260C>T | - | | | NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) | 5159 | PDGFRB | Likely benign | 375836509 | RCV000884793; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497285 | 149497285 | | | 5:g.149497285G>A | - | | | NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=) | 5159 | PDGFRB | Benign | 182175304 | RCV001523159; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497288 | 149497288 | | | 149497288 | - | | | NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002302940; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149497289 | 149497289 | | | 149497289 | - | | | NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=) | 5159 | PDGFRB | Benign | -1 | RCV002856137; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497300 | 149497300 | | | | - | | | NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) | 5159 | PDGFRB | Likely benign | 776113877 | RCV000884794|RCV001579654; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497321 | 149497321 | | | 5:g.149497321T>A | - | | | NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=) | 5159 | PDGFRB | Likely benign | -1 | RCV002933512; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497342 | 149497342 | | | | - | | | NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) | 5159 | PDGFRB | Likely benign | 75748462 | RCV000964660; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497346 | 149497346 | | | 5:g.149497346C>T | - | | | NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV002958728|RCV002958727; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497347 | 149497347 | | | NC_000005.9:g.149497347G>A | - | | | NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=) | 5159 | PDGFRB | Likely benign | -1 | RCV003050977; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497348 | 149497348 | | | | - | | | NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) | 5159 | PDGFRB | Benign/Likely benign | 35731372 | RCV000908781|RCV001692321; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149497358 | 149497358 | | | 5:g.149497358C>T | - | | | NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr) | 5159 | PDGFRB | Uncertain significance | 753367645 | RCV002004097; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497364 | 149497364 | | | 149497364 | - | | | NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) | 5159 | PDGFRB | Uncertain significance | 1561984983 | RCV002234102|RCV002291693; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497379 | 149497379 | | | NC_000005.9:g.149497379C>T | - | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) | 5159 | PDGFRB | Likely benign | 370594710 | RCV000967872|RCV003424504; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149497399 | 149497399 | | | 5:g.149497399C>T | - | | | NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002846272; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497409 | 149497409 | | | NC_000005.9:g.149497409T>G | - | | | NM_002609.4(PDGFRB):c.2905-8G>A | 5159 | PDGFRB | Uncertain significance | 201866603 | RCV002030611; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149497421 | 149497421 | | | 149497421 | - | | | NM_002609.4(PDGFRB):c.2905-8G>C | 5159 | PDGFRB | Likely benign | -1 | RCV003106484; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149497421 | 149497421 | | | NC_000005.9:g.149497421C>G | - | | | NM_002609.4(PDGFRB):c.2905-19C>G | 5159 | PDGFRB | Likely benign | -1 | RCV002976507; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149497432 | 149497432 | | | NC_000005.9:g.149497432G>C | - | | | NM_002609.4(PDGFRB):c.2904+15G>A | 5159 | PDGFRB | Benign | -1 | RCV002953337; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149498295 | 149498295 | | | NC_000005.9:g.149498295C>T | - | | | NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys) | 5159 | PDGFRB | Uncertain significance | 747398617 | RCV001308577; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149498324 | 149498324 | | | 149498324 | - | | | NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) | 5159 | PDGFRB | Benign/Likely benign | 139623802 | RCV000950900|RCV003432954; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149498325 | 149498325 | | | 5:g.149498325G>A | - | | | NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=) | 5159 | PDGFRB | Likely benign | 773161073 | RCV001499759; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149498340 | 149498340 | | | 149498340 | - | | | NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) | 5159 | PDGFRB | Likely benign | 1321037719 | RCV001231305; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149498342 | 149498342 | | | 5:g.149498342G>C | - | | | NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002933529|RCV003324860|RCV003409970; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149498359 | 149498359 | | | NC_000005.9:g.149498359G>C | - | | | NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) | 5159 | PDGFRB | Benign/Likely benign | 55647240 | RCV000650693|RCV001579791; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149498370 | 149498370 | | | 5:g.149498370C>T | ClinGen:CA3507501 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002904754; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149498403 | 149498403 | | | NC_000005.9:g.149498403C>T | - | | | NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV002707587|RCV003108166; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C043228 | 5 | 149499037 | 149499037 | | | NC_000005.9:g.149499037C>T | - | | | NM_002609.4(PDGFRB):c.2756G>A (p.Arg919Gln) | 5159 | PDGFRB | Likely benign | -1 | RCV002876329; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149499072 | 149499072 | | | NC_000005.9:g.149499072C>T | - | | | NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002647490; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149499087 | 149499087 | | | NC_000005.9:g.149499087T>C | - | | | NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu) | 5159 | PDGFRB | Uncertain significance | -1 | RCV003122340; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149499114 | 149499114 | | | NC_000005.9:g.149499114G>A | - | | | NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | 200865355 | RCV000480759|RCV002526658|RCV002526657; | N | MedGen:CN517202|MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:6150 | 5 | 149499123 | 149499123 | | | 5:g.149499123G>A | ClinGen:CA3507541 | CN169374 not specified; | | NM_002609.4(PDGFRB):c.2698+1G>T | 5159 | PDGFRB | Uncertain significance | -1 | RCV003053856; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149499574 | 149499574 | | | NC_000005.9:g.149499574C>A | - | | | NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) | 5159 | PDGFRB | Likely benign | 144234864 | RCV000884771; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149499618 | 149499618 | | | 5:g.149499618G>A | - | | | NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002629873; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149499620 | 149499620 | | | NC_000005.9:g.149499620C>T | - | | | NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile) | 5159 | PDGFRB | Likely benign | -1 | RCV002612027; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149499638 | 149499638 | | | NC_000005.9:g.149499638G>T | - | | | NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) | 5159 | PDGFRB | Benign | 148709288 | RCV000551534; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149499657 | 149499657 | | | NC_000005.9:g.149499657C>T | ClinGen:CA3507571 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) | 5159 | PDGFRB | Benign | 246395 | RCV000242001|RCV001517685|RCV001541442|RCV001788107|RCV001788106|RCV001788108|RCV003316398; | N | MedGen:CN169374|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149499672 | 149499672 | | | 5:g.149499672T>C | ClinGen:CA3507572 | CN169374 not specified; | | NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | 750896639 | RCV001219398|RCV002562476|RCV003238845; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149499685 | 149499685 | | | 5:g.149499685G>T | - | | | NM_002609.4(PDGFRB):c.2587-5T>C | 5159 | PDGFRB | Benign | 758524703 | RCV002082462; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149499691 | 149499691 | | | 149499691 | - | | | NM_002609.4(PDGFRB):c.2586+20C>G | 5159 | PDGFRB | Likely benign | -1 | RCV003093619; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149500431 | 149500431 | | | NC_000005.9:g.149500431G>C | - | | | NM_002609.4(PDGFRB):c.2586+13C>T | 5159 | PDGFRB | Likely benign | -1 | RCV002806152; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149500438 | 149500438 | | | NC_000005.9:g.149500438G>A | - | | | NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=) | 5159 | PDGFRB | Likely benign | -1 | RCV003067039; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149500478 | 149500478 | | | | - | | | NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=) | 5159 | PDGFRB | Likely benign | -1 | RCV003061113; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149500480 | 149500480 | | | | - | | | NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) | 5159 | PDGFRB | Benign/Likely benign | 41287108 | RCV000337800|RCV000650692|RCV001579776|RCV003316463; | N | MedGen:CN169374|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149500514 | 149500514 | | | 5:g.149500514C>T | ClinGen:CA3507608 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) | 5159 | PDGFRB | Benign | 143375423 | RCV000878166; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149500535 | 149500535 | | | 5:g.149500535G>A | - | | | NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=) | 5159 | PDGFRB | Likely benign | -1 | RCV002583424; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149500538 | 149500538 | | | | - | | | NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=) | 5159 | PDGFRB | Likely benign | 143342011 | RCV002215218; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149500553 | 149500553 | | | 149500553 | - | | | NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002675875; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149500554 | 149500554 | | | NC_000005.9:g.149500554G>A | - | | | NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu) | 5159 | PDGFRB | Pathogenic | -1 | RCV003006084; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149500554 | 149500554 | | | NC_000005.9:g.149500554G>T | - | | | NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) | 5159 | PDGFRB | Likely benign | 377442091 | RCV001231790; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149500570 | 149500570 | | | 5:g.149500570C>T | - | | | NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | 55830572 | RCV000887649|RCV001407780; | N | MedGen:C3661900|MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812 | 5 | 149500571 | 149500571 | | | 5:g.149500571G>A | - | | | NM_002609.4(PDGFRB):c.2464-3C>T | 5159 | PDGFRB | Uncertain significance | 571983343 | RCV002233268; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149500576 | 149500576 | | | NC_000005.9:g.149500576G>A | - | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.2463+4C>T | 5159 | PDGFRB | Uncertain significance | 557338313 | RCV001905689; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149500763 | 149500763 | | | 149500763 | - | | | NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) | 5159 | PDGFRB | Benign | 78336563 | RCV000280151|RCV001514222; | N | MedGen:CN169374|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149500767 | 149500767 | | | 5:g.149500767G>A | ClinGen:CA3507636 | CN169374 not specified; | | NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr) | 5159 | PDGFRB | Uncertain significance | 2113890060 | RCV001985864; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149500870 | 149500870 | | | 149500870 | - | | | NM_002609.4(PDGFRB):c.2345-18C>T | 5159 | PDGFRB | Likely benign | -1 | RCV003008287; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149500903 | 149500903 | | | NC_000005.9:g.149500903G>A | - | | | NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu) | 5159 | PDGFRB | Uncertain significance | -1 | RCV003020645; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149501459 | 149501459 | | | NC_000005.9:g.149501459A>T | - | | | NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn) | 5159 | PDGFRB | Likely benign | 751904503 | RCV001307214; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149501461 | 149501461 | | | 149501461 | - | | | NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=) | 5159 | PDGFRB | Benign | -1 | RCV002867203; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149501507 | 149501507 | | | | - | | | NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu) | 5159 | PDGFRB | Benign | -1 | RCV002711293; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149501511 | 149501511 | | | NC_000005.9:g.149501511C>T | - | | | NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002717037; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149501517 | 149501517 | | | NC_000005.9:g.149501517A>G | - | | | NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=) | 5159 | PDGFRB | Likely benign | 56112987 | RCV000998472|RCV002549092; | N | MedGen:C3661900|MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149501519 | 149501519 | | | 5:g.149501519G>A | - | | | NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV002588597|RCV003427572; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149501544 | 149501544 | | | NC_000005.9:g.149501544G>A | - | | | NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) | 5159 | PDGFRB | Likely benign | 555800957 | RCV000912250; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149501549 | 149501549 | | | 5:g.149501549G>A | - | | | NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn) | 5159 | PDGFRB | Uncertain significance | 1760151971 | RCV001944187; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149501552 | 149501552 | | | 149501552 | - | | | NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser) | 5159 | PDGFRB | Benign | -1 | RCV002720862; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149501575 | 149501575 | | | NC_000005.9:g.149501575C>T | - | | | NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=) | 5159 | PDGFRB | Likely benign | -1 | RCV003121269|RCV003434693; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149501579 | 149501579 | | | | - | | | NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg) | 5159 | PDGFRB | Likely benign | -1 | RCV002628884; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149501587 | 149501587 | | | NC_000005.9:g.149501587C>T | - | | | NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) | 5159 | PDGFRB | Likely benign | 192355633 | RCV001471521; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149501588 | 149501588 | | | 5:g.149501588G>A | - | | | NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=) | 5159 | PDGFRB | Likely benign | 961398213 | RCV001456229; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149502619 | 149502619 | | | 149502619 | - | | | NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) | 5159 | PDGFRB | Benign | 142689325 | RCV000949157; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149502624 | 149502624 | | | 5:g.149502624C>A | - | | | NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile) | 5159 | PDGFRB | Likely benign | -1 | RCV002706277; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149502624 | 149502624 | | | NC_000005.9:g.149502624C>T | - | | | NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=) | 5159 | PDGFRB | Likely benign | -1 | RCV002628963; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149502625 | 149502625 | | | | - | | | NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | 759436020 | RCV000174877|RCV002516650; | N | MedGen:CN517202|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812 | 5 | 149502662 | 149502662 | | | 5:g.149502662C>T | ClinGen:CA240504 | CN169374 not specified; | | NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys) | 5159 | PDGFRB | Likely benign | -1 | RCV002734910; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149502666 | 149502666 | | | NC_000005.9:g.149502666G>A | - | | | NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr) | 5159 | PDGFRB | Uncertain significance | 770635073 | RCV001996276; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149502672 | 149502672 | | | 149502672 | - | | | NM_002609.4(PDGFRB):c.2115C>T (p.Ser705=) | 5159 | PDGFRB | Likely benign | -1 | RCV003093570; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149502673 | 149502673 | | | | - | | | NM_002609.4(PDGFRB):c.2084G>A (p.Arg695His) | 5159 | PDGFRB | Likely benign | -1 | RCV003065006; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149502704 | 149502704 | | | NC_000005.9:g.149502704C>T | - | | | NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) | 5159 | PDGFRB | Likely benign | 753622898 | RCV001430969; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149502730 | 149502730 | | | 5:g.149502730G>A | - | | | NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002616122; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149502734 | 149502734 | | | NC_000005.9:g.149502734C>T | - | | | NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys) | 5159 | PDGFRB | Benign | 763239423 | RCV001510420; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149502735 | 149502735 | | | 149502735 | - | | | NC_000005.9:g.(?_149503793)_(149516630_?)dup | 5159 | PDGFRB | Uncertain significance | -1 | RCV000708462|RCV001308559; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831|M | 5 | 149503793 | 149516630 | | | | - | | | NM_002609.4(PDGFRB):c.2023+16C>T | 5159 | PDGFRB | Likely benign | -1 | RCV002588842; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149503797 | 149503797 | | | NC_000005.9:g.149503797G>A | - | | | NM_002609.4(PDGFRB):c.2023+6G>A | 5159 | PDGFRB | Uncertain significance | -1 | RCV002999169; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149503807 | 149503807 | | | NC_000005.9:g.149503807C>T | - | | | NM_002609.4(PDGFRB):c.2023+5C>T | 5159 | PDGFRB | Uncertain significance | 369842668 | RCV002235260; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149503808 | 149503808 | | | 5:g.149503808G>A | ClinGen:CA3507786 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1994T>C (p.Val665Ala) | 5159 | PDGFRB | Pathogenic | 1554108211 | RCV000585893; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149503842 | 149503842 | | | 5:g.149503842A>G | ClinGen:CA361764564,OMIM:173410.0006 | C1866182 601812 Premature aging syndrome, Penttinen type; | | NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) | 5159 | PDGFRB | Uncertain significance | 144050370 | RCV000049265|RCV001853035; | N | MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550, Orphanet:2591|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; M | 5 | 149503858 | 149503858 | | | 5:g.149503858G>T | ClinGen:CA143955,UniProtKB:P09619#VAR_069926,OMIM:173410.0004 | C0432284 228550 Infantile myofibromatosis 1; | | NM_002609.4(PDGFRB):c.1971C>T (p.His657=) | 5159 | PDGFRB | Likely benign | 138486655 | RCV002545987; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149503865 | 149503865 | | | 5:g.149503865G>A | - | | | NM_002609.4(PDGFRB):c.1958A>G (p.Lys653Arg) | 5159 | PDGFRB | Likely benign | -1 | RCV002948095; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149503878 | 149503878 | | | NC_000005.9:g.149503878T>C | - | | | NM_002609.4(PDGFRB):c.1913-10T>A | 5159 | PDGFRB | Likely benign | -1 | RCV002644389; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149503933 | 149503933 | | | NC_000005.9:g.149503933A>T | - | | | NM_002609.4(PDGFRB):c.1913-16C>G | 5159 | PDGFRB | Benign | -1 | RCV002624458; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149503939 | 149503939 | | | NC_000005.9:g.149503939G>C | - | | | NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=) | 5159 | PDGFRB | Benign | -1 | RCV003005018; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149504306 | 149504306 | | | | - | | | NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=) | 5159 | PDGFRB | Likely benign | 201518972 | RCV002548234; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149504318 | 149504318 | | | 5:g.149504318C>T | - | | | NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met) | 5159 | PDGFRB | Likely benign | -1 | RCV002630036; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149504319 | 149504319 | | | NC_000005.9:g.149504319G>A | - | | | NM_002609.4(PDGFRB):c.1872T>C (p.His624=) | 5159 | PDGFRB | Benign | 141371542 | RCV000946027; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149504330 | 149504330 | | | 5:g.149504330A>G | - | | | NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) | 5159 | PDGFRB | Benign | 56072663 | RCV000536633|RCV001637078|RCV003316725|RCV001579846; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149504348 | 149504348 | | | 5:g.149504348C>T | ClinGen:CA3507834 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met) | 5159 | PDGFRB | Uncertain significance | 139554380 | RCV001902893; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149504349 | 149504349 | | | 149504349 | - | | | NM_002609.4(PDGFRB):c.1842G>A (p.Val614=) | 5159 | PDGFRB | Likely benign | -1 | RCV002904617; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149504360 | 149504360 | | | | - | | | NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) | 5159 | PDGFRB | Likely benign | 199649903 | RCV000883687; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149504384 | 149504384 | | | 5:g.149504384G>A | - | | | NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys) | 5159 | PDGFRB | Uncertain significance | 541926152 | RCV001954447|RCV003401982; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149504392 | 149504392 | | | 149504392 | - | | | NM_002609.4(PDGFRB):c.1804del (p.Leu602fs) | 5159 | PDGFRB | Uncertain significance | 771859820 | RCV001931166; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149505011 | 149505011 | | | 149505010 | - | | | NM_002609.4(PDGFRB):c.1788G>T (p.Pro596=) | 5159 | PDGFRB | Likely benign | -1 | RCV003063356; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149505027 | 149505027 | | | | - | | | NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) | 5159 | PDGFRB | Uncertain significance | 770027941 | RCV000813317; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149505038 | 149505038 | | | 5:g.149505038A>G | - | | | NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=) | 5159 | PDGFRB | Likely benign | 367951719 | RCV001405786; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149505039 | 149505039 | | | 149505039 | - | | | NM_002609.4(PDGFRB):c.1776G>T (p.Thr592=) | 5159 | PDGFRB | Likely benign | -1 | RCV002814395; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149505039 | 149505039 | | | | - | | | NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) | 5159 | PDGFRB | Uncertain significance | 1760269359 | RCV001070641; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149505049 | 149505049 | | | 5:g.149505049T>C | - | | | NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=) | 5159 | PDGFRB | Benign/Likely benign | 56078873 | RCV000650694|RCV001580528; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149505054 | 149505054 | | | 5:g.149505054C>T | ClinGen:CA3507882 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1734G>A (p.Glu578=) | 5159 | PDGFRB | Likely benign | 2113897064 | RCV002133926; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149505081 | 149505081 | | | 149505081 | - | | | NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) | 5159 | PDGFRB | Uncertain significance | 1483057981 | RCV001302214|RCV003416171; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149505128 | 149505128 | | | 149505128 | - | | | NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) | 5159 | PDGFRB | Pathogenic | 367543286 | RCV000049264|RCV000390507|RCV000454370|RCV001197225|RCV001201357; | N | MONDO:MONDO:0009227,MedGen:C4551572,OMIM:228550, Orphanet:2591|MedGen:CN517202|MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812,O | 5 | 149505134 | 149505134 | | | 5:g.149505134G>A | ClinGen:CA328075,UniProtKB:P09619#VAR_069925,OMIM:173410.0003 | CN177837 Infantile myofibromatosis; | | NM_002609.4(PDGFRB):c.1675-14G>T | 5159 | PDGFRB | Likely benign | -1 | RCV003065355; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149505154 | 149505154 | | | NC_000005.9:g.149505154C>A | - | | | NM_002609.4(PDGFRB):c.1675-17T>G | 5159 | PDGFRB | Likely benign | -1 | RCV003071127; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149505157 | 149505157 | | | NC_000005.9:g.149505157A>C | - | | | NM_002609.4(PDGFRB):c.1674+9C>G | 5159 | PDGFRB | Likely benign | 1231443369 | RCV002091385; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149506074 | 149506074 | | | 149506074 | - | | | NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val) | 5159 | PDGFRB | Likely benign | -1 | RCV002663312; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149506094 | 149506094 | | | NC_000005.9:g.149506094G>C | - | | | NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002963002|RCV003348963; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149506097 | 149506097 | | | NC_000005.9:g.149506097T>C | - | | | NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe) | 5159 | PDGFRB | Uncertain significance | 2113898287 | RCV001928754; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149506127 | 149506127 | | | 149506127 | - | | | NM_002609.4(PDGFRB):c.1629G>A (p.Val543=) | 5159 | PDGFRB | Likely benign | -1 | RCV002766039; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149506128 | 149506128 | | | | - | | | NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | 1760301176 | RCV001249591|RCV001810006; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149506147 | 149506147 | | | 5:g.149506147G>T | - | | | NM_002609.4(PDGFRB):c.1580-8G>A | 5159 | PDGFRB | Likely benign | -1 | RCV002914864; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149506185 | 149506185 | | | NC_000005.9:g.149506185C>T | - | | | NM_002609.4(PDGFRB):c.1579+10C>T | 5159 | PDGFRB | Benign | 571420039 | RCV000878029; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509310 | 149509310 | | | 5:g.149509310G>A | - | | | NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met) | 5159 | PDGFRB | Likely benign | -1 | RCV002741832|RCV002750988; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149509332 | 149509332 | | | NC_000005.9:g.149509332C>T | - | | | NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) | 5159 | PDGFRB | Likely benign | 1580804718 | RCV001414051; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509336 | 149509336 | | | 5:g.149509336G>A | - | | | NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) | 5159 | PDGFRB | Likely benign | 371192118 | RCV000951786; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509345 | 149509345 | | | 5:g.149509345C>A | - | | | NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) | 5159 | PDGFRB | Benign | 150562879 | RCV000951616; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509360 | 149509360 | | | 5:g.149509360A>G | - | | | NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr) | 5159 | PDGFRB | Uncertain significance | -1 | RCV003073094|RCV003250750; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509362 | 149509362 | | | NC_000005.9:g.149509362C>T | - | | | NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=) | 5159 | PDGFRB | Likely benign | 186555112 | RCV001410829|RCV003433139; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509363 | 149509363 | | | 149509363 | - | | | NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV002917161|RCV003134526; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149509364 | 149509364 | | | NC_000005.9:g.149509364T>C | - | | | NM_002609.4(PDGFRB):c.1527G>T (p.Thr509=) | 5159 | PDGFRB | Likely benign | 750725462 | RCV002140472; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509372 | 149509372 | | | 149509372 | - | | | NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=) | 5159 | PDGFRB | Likely benign | -1 | RCV002640469; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509372 | 149509372 | | | | - | | | NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met) | 5159 | PDGFRB | Likely benign | 766614995 | RCV002021680; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149509373 | 149509373 | | | 149509373 | - | | | NM_002609.4(PDGFRB):c.1520G>A (p.Arg507His) | 5159 | PDGFRB | Benign/Likely benign | 145823245 | RCV001696270|RCV002538617; | N | MedGen:C3661900|MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812 | 5 | 149509379 | 149509379 | | | 149509379 | - | | | NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) | 5159 | PDGFRB | Benign | 148974733 | RCV000526323|RCV001579380; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509394 | 149509394 | | | 5:g.149509394C>T | ClinGen:CA3507961 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) | 5159 | PDGFRB | Likely benign | 142992960 | RCV000878451; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509395 | 149509395 | | | 5:g.149509395G>A | - | | | NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV003078990|RCV003420320; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149509412 | 149509412 | | | NC_000005.9:g.149509412C>T | - | | | NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) | 5159 | PDGFRB | Likely benign | 540480924 | RCV000650691; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149509427 | 149509427 | | | 5:g.149509427A>G | ClinGen:CA3507970 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) | 5159 | PDGFRB | Benign/Likely benign | 41287110 | RCV000547910|RCV003316724|RCV001796119|RCV001552896; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509446 | 149509446 | | | NC_000005.9:g.149509446C>T | ClinGen:CA3507973 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) | 5159 | PDGFRB | Uncertain significance | 765124485 | RCV000821126; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509449 | 149509449 | | | 5:g.149509449C>T | - | | | NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met) | 5159 | PDGFRB | Likely benign | -1 | RCV002628977; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509457 | 149509457 | | | NC_000005.9:g.149509457G>A | - | | | NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met) | 5159 | PDGFRB | Benign/Likely benign | -1 | RCV002971792|RCV002971791; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149509461 | 149509461 | | | NC_000005.9:g.149509461C>T | - | | | NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) | 5159 | PDGFRB | Benign | 371550567 | RCV000954348; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149509462 | 149509462 | | | 5:g.149509462G>A | - | | | NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | -1 | RCV003067116|RCV003383010; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149509500 | 149509500 | | | NC_000005.9:g.149509500C>T | - | | | NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) | 5159 | PDGFRB | Benign | 116171826 | RCV000878782|RCV001692318; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509506 | 149509506 | | | 5:g.149509506G>A | - | | | NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) | 5159 | PDGFRB | Benign | 74943037 | RCV000538137|RCV003316723|RCV001573918; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149509508 | 149509508 | | | 5:g.149509508G>A | ClinGen:CA3507992 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) | 5159 | PDGFRB | Benign | 149274963 | RCV000878783|RCV001672980; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149509523 | 149509523 | | | 5:g.149509523C>T | - | | | NM_002609.4(PDGFRB):c.1368-15C>T | 5159 | PDGFRB | Benign | 777941214 | RCV002167011; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149509546 | 149509546 | | | 149509546 | - | | | NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) | 5159 | PDGFRB | Uncertain significance | 1312583190 | RCV002232987; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149510123 | 149510123 | | | 5:g.149510123G>A | - | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1332G>C (p.Pro444=) | 5159 | PDGFRB | Likely benign | -1 | RCV003056867|RCV003427553; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149510137 | 149510137 | | | | - | | | NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=) | 5159 | PDGFRB | Likely benign | -1 | RCV002628541; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149510137 | 149510137 | | | | - | | | NM_002609.4(PDGFRB):c.1302C>G (p.Val434=) | 5159 | PDGFRB | Likely benign | -1 | RCV002615313; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149510167 | 149510167 | | | | - | | | NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) | 5159 | PDGFRB | Benign/Likely benign | 199873101 | RCV000945324|RCV001471909|RCV002547172; | N | MedGen:C3661900|MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149510190 | 149510190 | | | 5:g.149510190G>A | - | | | NM_002609.4(PDGFRB):c.1244-4G>A | 5159 | PDGFRB | Likely benign | 1580805805 | RCV001413614; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149510229 | 149510229 | | | 5:g.149510229C>T | - | | | NM_002609.4(PDGFRB):c.1244-5T>C | 5159 | PDGFRB | Likely benign | -1 | RCV002627908; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149510230 | 149510230 | | | NC_000005.9:g.149510230A>G | - | | | NM_002609.4(PDGFRB):c.1243+18C>T | 5159 | PDGFRB | Likely benign | 199897509 | RCV002182435; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149511524 | 149511524 | | | 149511524 | - | | | NM_002609.4(PDGFRB):c.1243+12G>A | 5159 | PDGFRB | Likely benign | -1 | RCV003037878; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149511530 | 149511530 | | | NC_000005.9:g.149511530C>T | - | | | NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) | 5159 | PDGFRB | Benign | 200203294 | RCV000878292; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149511562 | 149511562 | | | 5:g.149511562G>C | - | | | NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) | 5159 | PDGFRB | Likely benign | 374802057 | RCV000704920; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149511568 | 149511568 | | | NC_000005.9:g.149511568T>C | - | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=) | 5159 | PDGFRB | Benign | -1 | RCV002913504; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149511630 | 149511630 | | | | - | | | NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) | 5159 | PDGFRB | Benign/Likely benign | 2228439 | RCV000559689|RCV003316722|RCV001724058|RCV001550038; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149511636 | 149511636 | | | 5:g.149511636C>G | ClinGen:CA3508071 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1127+17C>G | 5159 | PDGFRB | Likely benign | -1 | RCV002591804; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149512296 | 149512296 | | | NC_000005.9:g.149512296G>C | - | | | NM_002609.4(PDGFRB):c.1127+7A>G | 5159 | PDGFRB | Benign | -1 | RCV003002172; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149512306 | 149512306 | | | NC_000005.9:g.149512306T>C | - | | | NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002975574; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149512313 | 149512313 | | | NC_000005.9:g.149512313C>T | - | | | NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) | 5159 | PDGFRB | Benign | 200225593 | RCV000946044; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149512321 | 149512321 | | | 5:g.149512321C>T | - | | | NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met) | 5159 | PDGFRB | Likely benign | 371975483 | RCV001550215|RCV002568314; | N | MedGen:C3661900|MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:6150 | 5 | 149512326 | 149512326 | | | 149512326 | - | | | NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) | 5159 | PDGFRB | Benign | 200684708 | RCV000951793; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149512332 | 149512332 | | | 5:g.149512332G>A | - | | | NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=) | 5159 | PDGFRB | Benign/Likely benign | -1 | RCV002933538|RCV003434527; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149512351 | 149512351 | | | | - | | | NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=) | 5159 | PDGFRB | Benign | 146064275 | RCV001513570; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149512357 | 149512357 | | | 149512357 | - | | | NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys) | 5159 | PDGFRB | Benign | -1 | RCV003069749; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149512377 | 149512377 | | | NC_000005.9:g.149512377G>A | - | | | NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His) | 5159 | PDGFRB | Likely benign | -1 | RCV003070065; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149512383 | 149512383 | | | NC_000005.9:g.149512383C>G | - | | | NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) | 5159 | PDGFRB | Benign/Likely benign | 2229558 | RCV000420025|RCV001084340|RCV001199248|RCV001796032|RCV003316523; | N | MedGen:C3661900|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS2285 | 5 | 149512407 | 149512407 | | | 5:g.149512407G>A | ClinGen:CA3508126 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=) | 5159 | PDGFRB | Likely benign | -1 | RCV002603717; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149512432 | 149512432 | | | | - | | | NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp) | 5159 | PDGFRB | Uncertain significance | -1 | RCV003070098; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149512446 | 149512446 | | | NC_000005.9:g.149512446G>A | - | | | NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002296873; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149512449 | 149512449 | | | 149512449 | - | | | NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile) | 5159 | PDGFRB | Benign | -1 | RCV002971807; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149512469 | 149512469 | | | NC_000005.9:g.149512469G>A | - | | | NM_002609.4(PDGFRB):c.968G>A (p.Gly323Asp) | 5159 | PDGFRB | Likely benign | 374208706 | RCV001893045; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149512472 | 149512472 | | | 149512472 | - | | | NM_002609.4(PDGFRB):c.963G>A (p.Glu321=) | 5159 | PDGFRB | Likely benign | 773441060 | RCV001396687; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149512477 | 149512477 | | | 149512477 | - | | | NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002662814; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149512490 | 149512490 | | | NC_000005.9:g.149512490C>T | - | | | NM_002609.4(PDGFRB):c.949C>T (p.Arg317Trp) | 5159 | PDGFRB | Likely benign | -1 | RCV002928761; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149512491 | 149512491 | | | NC_000005.9:g.149512491G>A | - | | | NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) | 5159 | PDGFRB | Benign/Likely benign | 41287112 | RCV000335817|RCV000514246|RCV001079189|RCV003316462; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C422 | 5 | 149512494 | 149512494 | | | 5:g.149512494C>T | ClinGen:CA3508146 | CN517202 not provided; | | NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) | 5159 | PDGFRB | Benign | 56069016 | RCV000952399|RCV001683699; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149512495 | 149512495 | | | 5:g.149512495G>A | - | | | NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn) | 5159 | PDGFRB | Benign | -1 | RCV002667541; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149512502 | 149512502 | | | NC_000005.9:g.149512502C>T | - | | | NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) | 5159 | PDGFRB | Uncertain significance | 1580808180 | RCV000792736; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149512503 | 149512503 | | | 5:g.149512503T>C | - | | | NM_002609.4(PDGFRB):c.921C>T (p.Asn307=) | 5159 | PDGFRB | Likely benign | -1 | RCV002650355; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149513162 | 149513162 | | | | - | | | NM_002609.4(PDGFRB):c.882G>A (p.Thr294=) | 5159 | PDGFRB | Benign | -1 | RCV003069746; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149513201 | 149513201 | | | | - | | | NM_002609.4(PDGFRB):c.882G>T (p.Thr294=) | 5159 | PDGFRB | Likely benign | -1 | RCV002731122; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149513201 | 149513201 | | | | - | | | NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser) | 5159 | PDGFRB | Uncertain significance | 1175765188 | RCV001978827; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149513208 | 149513208 | | | 149513208 | - | | | NM_002609.4(PDGFRB):c.858G>A (p.Ser286=) | 5159 | PDGFRB | Likely benign | 778116813 | RCV002540907; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149513225 | 149513225 | | | 5:g.149513225C>T | - | | | NM_002609.4(PDGFRB):c.843C>T (p.Ala281=) | 5159 | PDGFRB | Benign | -1 | RCV002993607; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149513240 | 149513240 | | | | - | | | NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys) | 5159 | PDGFRB | Likely benign | -1 | RCV003088199; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149513266 | 149513266 | | | NC_000005.9:g.149513266G>A | - | | | NM_002609.4(PDGFRB):c.779C>T (p.Pro260Leu) | 5159 | PDGFRB | Likely benign | -1 | RCV003069313; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149513304 | 149513304 | | | NC_000005.9:g.149513304G>A | - | | | NM_002609.4(PDGFRB):c.760-10G>T | 5159 | PDGFRB | Likely benign | -1 | RCV002811928; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149513333 | 149513333 | | | NC_000005.9:g.149513333C>A | - | | | NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002760857; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149513458 | 149513458 | | | NC_000005.9:g.149513458A>G | - | | | NM_002609.4(PDGFRB):c.735C>T (p.Phe245=) | 5159 | PDGFRB | Likely benign | 765554311 | RCV002120009; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149513468 | 149513468 | | | 149513468 | - | | | NM_002609.4(PDGFRB):c.729C>T (p.Val243=) | 5159 | PDGFRB | Likely benign | 758566697 | RCV002154516; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149513474 | 149513474 | | | 149513474 | - | | | NM_002609.4(PDGFRB):c.726G>C (p.Val242=) | 5159 | PDGFRB | Likely benign | 149027530 | RCV000911557; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149513477 | 149513477 | | | 5:g.149513477C>G | - | | | NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) | 5159 | PDGFRB | Benign/Likely benign | 41287114 | RCV001796825|RCV001796322|RCV000949206; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C043 | 5 | 149513489 | 149513489 | | | 5:g.149513489G>A | - | | | NM_002609.4(PDGFRB):c.657C>T (p.Asn219=) | 5159 | PDGFRB | Likely benign | 745467275 | RCV002066246; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149513546 | 149513546 | | | 5:g.149513546G>A | - | | | NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile) | 5159 | PDGFRB | Uncertain significance | 370817438 | RCV002020588; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149513557 | 149513557 | | | 149513557 | - | | | NM_002609.4(PDGFRB):c.646G>C (p.Val216Leu) | 5159 | PDGFRB | Likely benign | -1 | RCV003030943; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149513557 | 149513557 | | | NC_000005.9:g.149513557C>G | - | | | NM_002609.4(PDGFRB):c.645C>T (p.Asn215=) | 5159 | PDGFRB | Benign | -1 | RCV002895105; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149513558 | 149513558 | | | | - | | | NM_002609.4(PDGFRB):c.631+1G>A | 5159 | PDGFRB | Uncertain significance | 111491260 | RCV001316522; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149514312 | 149514312 | | | 149514312 | - | | | NM_002609.4(PDGFRB):c.624A>C (p.Arg208Ser) | 5159 | PDGFRB | Likely benign | -1 | RCV002882172|RCV002885641; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514320 | 149514320 | | | NC_000005.9:g.149514320T>G | - | | | NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=) | 5159 | PDGFRB | Likely benign | 756283680 | RCV001411835; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514329 | 149514329 | | | 149514329 | - | | | NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) | 5159 | PDGFRB | Benign | 116642123 | RCV000952084|RCV001692327; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514354 | 149514354 | | | 5:g.149514354C>T | - | | | NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) | 5159 | PDGFRB | Benign/Likely benign | 2229560 | RCV000878806|RCV001573941; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149514363 | 149514363 | | | 5:g.149514363A>G | - | | | NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser) | 5159 | PDGFRB | Likely benign | -1 | RCV002615971; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514369 | 149514369 | | | NC_000005.9:g.149514369G>C | - | | | NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile) | 5159 | PDGFRB | Uncertain significance | -1 | RCV003105017; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514369 | 149514369 | | | NC_000005.9:g.149514369G>A | - | | | NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala) | 5159 | PDGFRB | Likely benign | -1 | RCV003071101; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514402 | 149514402 | | | NC_000005.9:g.149514402C>G | - | | | NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser) | 5159 | PDGFRB | Likely benign | 574853772 | RCV001468838|RCV002561299; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149514403 | 149514403 | | | 149514403 | - | | | NM_002609.4(PDGFRB):c.529C>T (p.Arg177Cys) | 5159 | PDGFRB | Likely benign | -1 | RCV002716312; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514415 | 149514415 | | | NC_000005.9:g.149514415G>A | - | | | NM_002609.4(PDGFRB):c.499G>A (p.Val167Ile) | 5159 | PDGFRB | Likely benign | 144857517 | RCV002215126; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514445 | 149514445 | | | 149514445 | - | | | NM_002609.4(PDGFRB):c.486G>A (p.Glu162=) | 5159 | PDGFRB | Benign | 147141808 | RCV001516041; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149514458 | 149514458 | | | 149514458 | - | | | NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) | 5159 | PDGFRB | Uncertain significance | 1562011077 | RCV002233444; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514460 | 149514460 | | | NC_000005.9:g.149514460C>T | - | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002944100; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514484 | 149514484 | | | NC_000005.9:g.149514484G>A | - | | | NM_002609.4(PDGFRB):c.438C>A (p.Thr146=) | 5159 | PDGFRB | Likely benign | 764023871 | RCV002065743; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514506 | 149514506 | | | 5:g.149514506G>T | - | | | NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | 138830253 | RCV001765041|RCV002540233|RCV002496084; | N | MedGen:C3661900|MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149514525 | 149514525 | | | 149514525 | - | | | NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) | 5159 | PDGFRB | Likely benign | 751600349 | RCV001458226; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514548 | 149514548 | | | 5:g.149514548G>A | - | | | NM_002609.4(PDGFRB):c.390T>C (p.Asn130=) | 5159 | PDGFRB | Likely benign | -1 | RCV003020535; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514554 | 149514554 | | | | - | | | NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) | 5159 | PDGFRB | Likely benign | 371293050 | RCV001227662; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514567 | 149514567 | | | 5:g.149514567C>T | - | | | NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002284708|RCV003097673; | N | MedGen:CN517202|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:6150 | 5 | 149514567 | 149514567 | | | 149514567 | - | | | NM_002609.4(PDGFRB):c.365-4G>T | 5159 | PDGFRB | Benign | 139448702 | RCV000540845|RCV003316727; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514583 | 149514583 | | | NC_000005.9:g.149514583C>A | ClinGen:CA3508325 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.365-5G>C | 5159 | PDGFRB | Likely benign | -1 | RCV002631667; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149514584 | 149514584 | | | NC_000005.9:g.149514584C>G | - | | | NM_002609.4(PDGFRB):c.365-13C>T | 5159 | PDGFRB | Likely benign | -1 | RCV003073233; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149514592 | 149514592 | | | NC_000005.9:g.149514592G>A | - | | | NM_002609.4(PDGFRB):c.364+44C>T | 5159 | PDGFRB | Benign | 740750 | RCV001595730|RCV001788597|RCV001788598|RCV001788596; | N | MedGen:C3661900|MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665|MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149515074 | 149515074 | | | 149515074 | - | | | NM_002609.4(PDGFRB):c.351C>T (p.Tyr117=) | 5159 | PDGFRB | Likely benign | -1 | RCV002580083; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149515131 | 149515131 | | | | - | | | NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln) | 5159 | PDGFRB | Benign | -1 | RCV003083879; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149515138 | 149515138 | | | NC_000005.9:g.149515138C>T | - | | | NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln) | 5159 | PDGFRB | Likely benign | -1 | RCV002927873; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149515144 | 149515144 | | | NC_000005.9:g.149515144C>T | - | | | NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) | 5159 | PDGFRB | Benign | 749932332 | RCV001247392; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149515148 | 149515148 | | | 5:g.149515148C>T | - | | | NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn) | 5159 | PDGFRB | Likely benign | 558122968 | RCV001730214|RCV002539790; | N | MedGen:C3661900|MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS2285 | 5 | 149515151 | 149515151 | | | 149515151 | - | | | NM_002609.4(PDGFRB):c.330C>T (p.Thr110=) | 5159 | PDGFRB | Likely benign | 755333624 | RCV002540219; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149515152 | 149515152 | | | 5:g.149515152G>A | - | | | NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) | 5159 | PDGFRB | Likely benign | 147303614 | RCV000951783|RCV001579595|RCV002547222; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149515219 | 149515219 | | | 5:g.149515219G>A | - | | | NM_002609.4(PDGFRB):c.259C>T (p.Leu87=) | 5159 | PDGFRB | Likely benign | -1 | RCV003006354; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149515223 | 149515223 | | | | - | | | NM_002609.4(PDGFRB):c.250G>A (p.Val84Met) | 5159 | PDGFRB | Benign | -1 | RCV002891157; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149515232 | 149515232 | | | NC_000005.9:g.149515232C>T | - | | | NM_002609.4(PDGFRB):c.225G>A (p.Lys75=) | 5159 | PDGFRB | Likely benign | -1 | RCV003026691; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149515257 | 149515257 | | | | - | | | NM_002609.4(PDGFRB):c.177G>A (p.Pro59=) | 5159 | PDGFRB | Likely benign | -1 | RCV002894397; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149515305 | 149515305 | | | | - | | | NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) | 5159 | PDGFRB | Conflicting interpretations of pathogenicity | 202213873 | RCV001223591|RCV002563647; | N | MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149515306 | 149515306 | | | 5:g.149515306G>A | - | | | NM_002609.4(PDGFRB):c.168T>A (p.Gly56=) | 5159 | PDGFRB | Likely benign | 532483221 | RCV002120208; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831 | 5 | 149515314 | 149515314 | | | 149515314 | - | | | NM_002609.4(PDGFRB):c.102C>T (p.Val34=) | 5159 | PDGFRB | Benign | 17708515 | RCV000534511|RCV001712517|RCV003316721; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149515380 | 149515380 | | | 5:g.149515380G>A | ClinGen:CA3508412 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser) | 5159 | PDGFRB | Uncertain significance | 761286709 | RCV001773882|RCV002540243; | N | MedGen:C3661900|MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149515388 | 149515388 | | | 149515388 | - | | | NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) | 5159 | PDGFRB | Benign | 17110944 | RCV000246485|RCV000551181|RCV001573749|RCV003316402; | N | MedGen:CN169374|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592 | 5 | 149515397 | 149515397 | | | NC_000005.9:g.149515397T>A | UniProtKB:P09619#VAR_034377,ClinGen:CA3508416 | C3554321 615007 Basal ganglia calcification, idiopathic, 4; | | NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) | 5159 | PDGFRB | Uncertain significance | 148853962 | RCV001070780; | N | MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149515439 | 149515439 | | | 5:g.149515439C>T | - | | | NM_002609.4(PDGFRB):c.42C>T (p.Gly14=) | 5159 | PDGFRB | Likely benign | 145316660 | RCV001431878; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149515440 | 149515440 | | | 149515440 | - | | | NM_002609.4(PDGFRB):c.40+19_40+23del | 5159 | PDGFRB | Likely benign | -1 | RCV002794767; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149516548 | 149516552 | | | NC_000005.9:g.149516550_149516554del | - | | | NM_002609.4(PDGFRB):c.40+16A>G | 5159 | PDGFRB | Uncertain significance | -1 | RCV002918990; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665 | 5 | 149516555 | 149516555 | | | NC_000005.9:g.149516555T>C | - | | | NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val) | 5159 | PDGFRB | Likely benign | 150173975 | RCV002100466|RCV003007102; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149516594 | 149516594 | | | 149516594 | - | | | NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly) | 5159 | PDGFRB | Uncertain significance | -1 | RCV002303198; | N | MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980 | 5 | 149516594 | 149516594 | | | 149516594 | - | | | NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) | 5159 | PDGFRB | Benign | 138641101 | RCV000952400|RCV001698675; | N | MONDO:MONDO:0014004,MedGen:C3554321,OMIM:615007, Orphanet:1980; MONDO:MONDO:0014704,MedGen:C4225270,OMIM:616592, Orphanet:477831; MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:363665; MONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591 | 5 | 149516599 | 149516599 | | | 5:g.149516599C>T | - | | |
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