MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:9676
Name:Penttinen-Aula syndrome
Definition:
Alternative IDs:OMIM:601812
ParentIDs:MESH:D011371|MESH:D017880|MESH:D030981
TreeNumbers:C05.116.099.052/C536653 |C05.116.264.579.052/C536653 |C05.660.585/C536653 |C16.131.621.585/C536653 |C16.320.565.753/C536653 |C18.452.648.753/C536653
Synonyms:PENTT |Premature aging syndrome Penttinen type |Premature Aging Syndrome, Penttinen Type
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease
Reference: MedGen: C536653
MeSH: C536653
OMIM: 601812;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000951Abnormality of the skin
3 HP:0001156Brachydactyly
4 HP:0000270Delayed cranial suture closure
5 HP:0000684Delayed eruption of teeth
6 HP:0002750Delayed skeletal maturation
7 HP:0001507Growth abnormality
NAMDC:  Constitutional
8 HP:0000962Hyperkeratosis
9 HP:0000540Hypermetropia
10 HP:0000327Hypoplasia of the maxilla
11 HP:0002925Increased thyroid-stimulating hormone level
12 HP:0100578Lipoatrophy
13 HP:0000347Micrognathia
14 HP:0011800Midface retrusion
15 HP:0000460Narrow nose
16 HP:0009771Osteolytic defects of the phalanges of the hand
17 HP:0000938Osteopenia
18 HP:0000426Prominent nasal bridge
19 HP:0000520Proptosis
20 HP:0002650ScoliosisHP:0040283
21 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
22 HP:0003100Slender long bone
23 HP:0008070Sparse hair
24 HP:0010539Thin calvarium
25 HP:0000233Thin vermilion border
26 HP:0002645Wormian bonesHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=)5159PDGFRBLikely benign376978985RCV002544972|RCV003424476; NMONDO: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:198051494953501494953505:g.149495350C>T-
NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val)5159PDGFRBLikely benign-1RCV003077606; NMONDO: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:3636655149495351149495351NC_000005.9:g.149495351G>A-
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp)5159PDGFRBUncertain significance267600485RCV001891892; NMONDO: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:19805149495355149495355149495355-
NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)5159PDGFRBBenign-1RCV003056723; NMONDO: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:3636655149495359149495359-
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)5159PDGFRBBenign/Likely benign114435947RCV000878003|RCV000987618|RCV001573574|RCV002540033; NMONDO: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:198051494953601494953605:g.149495360G>A-
NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=)5159PDGFRBLikely benign-1RCV002701272; NMONDO: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:4778315149495368149495368-
NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=)5159PDGFRBBenign774197688RCV002092779; NMONDO: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:4778315149495371149495371149495371-
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)5159PDGFRBConflicting interpretations of pathogenicity-1RCV002755619|RCV003167702; NMONDO: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:3636655149495372149495372NC_000005.9:g.149495372G>A-
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=)5159PDGFRBBenign183852315RCV000946344; NMONDO: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:47783151494953771494953775:g.149495377C>T-
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)5159PDGFRBUncertain significance-1RCV002819553; NMONDO: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:3636655149495390149495391NC_000005.9:g.149495394_149495395insCGGCTC-
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=)5159PDGFRBBenign246388RCV000241889|RCV001517683|RCV001689837|RCV001788116|RCV001788115|RCV001788117|RCV003316401; NMedGen: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:6165925149495395149495395NC_000005.9:g.149495395T>CClinGen:CA3507370CN169374 not specified;
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=)5159PDGFRBLikely benign141511317RCV000946024|RCV003424486; NMONDO: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:47783151494954431494954435:g.149495443G>A-
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)5159PDGFRBConflicting interpretations of pathogenicity-1RCV002923028|RCV003250622; NMONDO: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:3636655149495466149495466NC_000005.9:g.149495466C>T-
NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=)5159PDGFRBLikely benign-1RCV002894449; NMONDO: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:3636655149495482149495482-
NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=)5159PDGFRBLikely benign-1RCV002654733; NMONDO: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:19805149495502149495502-
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)5159PDGFRBUncertain significance-1RCV002923379|RCV002923378|RCV003458249; NMeSH: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:C4225275149495508149495508NC_000005.9:g.149495508A>G-
NM_002609.4(PDGFRB):c.3138-11C>G5159PDGFRBLikely benign-1RCV003017583; NMONDO: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:3636655149495520149495520NC_000005.9:g.149495520G>C-
NM_002609.4(PDGFRB):c.3137+15C>T5159PDGFRBLikely benign-1RCV002942641; NMONDO: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:3636655149497166149497166NC_000005.9:g.149497166G>A-
NM_002609.4(PDGFRB):c.3137+13G>T5159PDGFRBLikely benign2113883431RCV002144040; NMONDO: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:25915149497168149497168149497168-
NM_002609.4(PDGFRB):c.3137+4A>G5159PDGFRBBenign246391RCV000251507|RCV001517684|RCV001610630|RCV001788112|RCV001788113|RCV001788114|RCV003316400; NMedGen: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:6165925149497177149497177NC_000005.9:g.149497177T>CClinGen:CA3507428CN169374 not specified;
NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=)5159PDGFRBLikely benign-1RCV002918160; NMONDO: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:3636655149497192149497192-
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val)5159PDGFRBBenign/Likely benign149417689RCV000525984|RCV001565252|RCV003316726; NMONDO: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:259151494971991494971995:g.149497199C>AClinGen:CA3507432C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=)5159PDGFRBBenign569140859RCV002095368; NMONDO: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:4778315149497216149497216149497216-
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=)5159PDGFRBBenign2228440RCV000246961|RCV001515545|RCV001788110|RCV001707588|RCV001788111|RCV001788109|RCV003316399; NMedGen: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:6165925149497228149497228NC_000005.9:g.149497228G>AClinGen:CA3507436CN169374 not specified;
NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=)5159PDGFRBLikely benign2113883671RCV002203687; NMONDO: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:4778315149497249149497249149497249-
NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn)5159PDGFRBLikely benign-1RCV002913496; NMONDO: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:3636655149497260149497260NC_000005.9:g.149497260C>T-
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=)5159PDGFRBLikely benign375836509RCV000884793; NMONDO: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:47783151494972851494972855:g.149497285G>A-
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)5159PDGFRBBenign182175304RCV001523159; NMONDO: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:4778315149497288149497288149497288-
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)5159PDGFRBUncertain significance-1RCV002302940; NMONDO: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:19805149497289149497289149497289-
NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)5159PDGFRBBenign-1RCV002856137; NMONDO: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:4778315149497300149497300-
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=)5159PDGFRBLikely benign776113877RCV000884794|RCV001579654; NMONDO: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:47783151494973211494973215:g.149497321T>A-
NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=)5159PDGFRBLikely benign-1RCV002933512; NMONDO: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:3636655149497342149497342-
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His)5159PDGFRBLikely benign75748462RCV000964660; NMONDO: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:47783151494973461494973465:g.149497346C>T-
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)5159PDGFRBConflicting interpretations of pathogenicity-1RCV002958728|RCV002958727; NMONDO: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:3636655149497347149497347NC_000005.9:g.149497347G>A-
NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=)5159PDGFRBLikely benign-1RCV003050977; NMONDO: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:3636655149497348149497348-
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln)5159PDGFRBBenign/Likely benign35731372RCV000908781|RCV001692321; NMONDO: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:198051494973581494973585:g.149497358C>T-
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr)5159PDGFRBUncertain significance753367645RCV002004097; NMONDO: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:4778315149497364149497364149497364-
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn)5159PDGFRBUncertain significance1561984983RCV002234102|RCV002291693; NMONDO: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:3636655149497379149497379NC_000005.9:g.149497379C>T-C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=)5159PDGFRBLikely benign370594710RCV000967872|RCV003424504; NMONDO: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:198051494973991494973995:g.149497399C>T-
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)5159PDGFRBUncertain significance-1RCV002846272; NMONDO: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:4778315149497409149497409NC_000005.9:g.149497409T>G-
NM_002609.4(PDGFRB):c.2905-8G>A5159PDGFRBUncertain significance201866603RCV002030611; NMONDO: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:4778315149497421149497421149497421-
NM_002609.4(PDGFRB):c.2905-8G>C5159PDGFRBLikely benign-1RCV003106484; NMONDO: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:25915149497421149497421NC_000005.9:g.149497421C>G-
NM_002609.4(PDGFRB):c.2905-19C>G5159PDGFRBLikely benign-1RCV002976507; NMONDO: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:3636655149497432149497432NC_000005.9:g.149497432G>C-
NM_002609.4(PDGFRB):c.2904+15G>A5159PDGFRBBenign-1RCV002953337; NMONDO: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:3636655149498295149498295NC_000005.9:g.149498295C>T-
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)5159PDGFRBUncertain significance747398617RCV001308577; NMONDO: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:4778315149498324149498324149498324-
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=)5159PDGFRBBenign/Likely benign139623802RCV000950900|RCV003432954; NMONDO: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:259151494983251494983255:g.149498325G>A-
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)5159PDGFRBLikely benign773161073RCV001499759; NMONDO: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:4778315149498340149498340149498340-
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)5159PDGFRBLikely benign1321037719RCV001231305; NMONDO: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:36366551494983421494983425:g.149498342G>C-
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)5159PDGFRBUncertain significance-1RCV002933529|RCV003324860|RCV003409970; NMONDO: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:4778315149498359149498359NC_000005.9:g.149498359G>C-
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=)5159PDGFRBBenign/Likely benign55647240RCV000650693|RCV001579791; NMONDO: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:36366551494983701494983705:g.149498370C>TClinGen:CA3507501C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)5159PDGFRBUncertain significance-1RCV002904754; NMONDO: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:3636655149498403149498403NC_000005.9:g.149498403C>T-
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)5159PDGFRBConflicting interpretations of pathogenicity-1RCV002707587|RCV003108166; NMeSH: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:C0432285149499037149499037NC_000005.9:g.149499037C>T-
NM_002609.4(PDGFRB):c.2756G>A (p.Arg919Gln)5159PDGFRBLikely benign-1RCV002876329; NMONDO: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:3636655149499072149499072NC_000005.9:g.149499072C>T-
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)5159PDGFRBUncertain significance-1RCV002647490; NMONDO: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:19805149499087149499087NC_000005.9:g.149499087T>C-
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)5159PDGFRBUncertain significance-1RCV003122340; NMONDO: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:4778315149499114149499114NC_000005.9:g.149499114G>A-
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)5159PDGFRBConflicting interpretations of pathogenicity200865355RCV000480759|RCV002526658|RCV002526657; NMedGen: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:615051494991231494991235:g.149499123G>AClinGen:CA3507541CN169374 not specified;
NM_002609.4(PDGFRB):c.2698+1G>T5159PDGFRBUncertain significance-1RCV003053856; NMONDO: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:3636655149499574149499574NC_000005.9:g.149499574C>A-
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=)5159PDGFRBLikely benign144234864RCV000884771; NMONDO: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:36366551494996181494996185:g.149499618G>A-
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)5159PDGFRBUncertain significance-1RCV002629873; NMONDO: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:19805149499620149499620NC_000005.9:g.149499620C>T-
NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile)5159PDGFRBLikely benign-1RCV002612027; NMONDO: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:19805149499638149499638NC_000005.9:g.149499638G>T-
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=)5159PDGFRBBenign148709288RCV000551534; NMONDO: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:25915149499657149499657NC_000005.9:g.149499657C>TClinGen:CA3507571C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=)5159PDGFRBBenign246395RCV000242001|RCV001517685|RCV001541442|RCV001788107|RCV001788106|RCV001788108|RCV003316398; NMedGen: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:61659251494996721494996725:g.149499672T>CClinGen:CA3507572CN169374 not specified;
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)5159PDGFRBConflicting interpretations of pathogenicity750896639RCV001219398|RCV002562476|RCV003238845; NMONDO: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:47783151494996851494996855:g.149499685G>T-
NM_002609.4(PDGFRB):c.2587-5T>C5159PDGFRBBenign758524703RCV002082462; NMONDO: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:4778315149499691149499691149499691-
NM_002609.4(PDGFRB):c.2586+20C>G5159PDGFRBLikely benign-1RCV003093619; NMONDO: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:25915149500431149500431NC_000005.9:g.149500431G>C-
NM_002609.4(PDGFRB):c.2586+13C>T5159PDGFRBLikely benign-1RCV002806152; NMONDO: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:3636655149500438149500438NC_000005.9:g.149500438G>A-
NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=)5159PDGFRBLikely benign-1RCV003067039; NMONDO: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:3636655149500478149500478-
NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=)5159PDGFRBLikely benign-1RCV003061113; NMONDO: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:3636655149500480149500480-
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)5159PDGFRBBenign/Likely benign41287108RCV000337800|RCV000650692|RCV001579776|RCV003316463; NMedGen: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:61659251495005141495005145:g.149500514C>TClinGen:CA3507608C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=)5159PDGFRBBenign143375423RCV000878166; NMONDO: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:198051495005351495005355:g.149500535G>A-
NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=)5159PDGFRBLikely benign-1RCV002583424; NMONDO: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:25915149500538149500538-
NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=)5159PDGFRBLikely benign143342011RCV002215218; NMONDO: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:25915149500553149500553149500553-
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)5159PDGFRBUncertain significance-1RCV002675875; NMONDO: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:4778315149500554149500554NC_000005.9:g.149500554G>A-
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)5159PDGFRBPathogenic-1RCV003006084; NMONDO: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:25915149500554149500554NC_000005.9:g.149500554G>T-
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)5159PDGFRBLikely benign377442091RCV001231790; NMONDO: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:36366551495005701495005705:g.149500570C>T-
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)5159PDGFRBConflicting interpretations of pathogenicity55830572RCV000887649|RCV001407780; NMedGen: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:60181251495005711495005715:g.149500571G>A-
NM_002609.4(PDGFRB):c.2464-3C>T5159PDGFRBUncertain significance571983343RCV002233268; NMONDO: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:3636655149500576149500576NC_000005.9:g.149500576G>A-C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.2463+4C>T5159PDGFRBUncertain significance557338313RCV001905689; NMONDO: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:25915149500763149500763149500763-
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=)5159PDGFRBBenign78336563RCV000280151|RCV001514222; NMedGen: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:61659251495007671495007675:g.149500767G>AClinGen:CA3507636CN169374 not specified;
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr)5159PDGFRBUncertain significance2113890060RCV001985864; NMONDO: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:25915149500870149500870149500870-
NM_002609.4(PDGFRB):c.2345-18C>T5159PDGFRBLikely benign-1RCV003008287; NMONDO: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:25915149500903149500903NC_000005.9:g.149500903G>A-
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)5159PDGFRBUncertain significance-1RCV003020645; NMONDO: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:25915149501459149501459NC_000005.9:g.149501459A>T-
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)5159PDGFRBLikely benign751904503RCV001307214; NMONDO: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:4778315149501461149501461149501461-
NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)5159PDGFRBBenign-1RCV002867203; NMONDO: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:3636655149501507149501507-
NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu)5159PDGFRBBenign-1RCV002711293; NMONDO: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:3636655149501511149501511NC_000005.9:g.149501511C>T-
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)5159PDGFRBUncertain significance-1RCV002717037; NMONDO: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:3636655149501517149501517NC_000005.9:g.149501517A>G-
NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=)5159PDGFRBLikely benign56112987RCV000998472|RCV002549092; NMedGen: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:61659251495015191495015195:g.149501519G>A-
NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)5159PDGFRBConflicting interpretations of pathogenicity-1RCV002588597|RCV003427572; NMONDO: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:25915149501544149501544NC_000005.9:g.149501544G>A-
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=)5159PDGFRBLikely benign555800957RCV000912250; NMONDO: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:198051495015491495015495:g.149501549G>A-
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn)5159PDGFRBUncertain significance1760151971RCV001944187; NMONDO: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:25915149501552149501552149501552-
NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser)5159PDGFRBBenign-1RCV002720862; NMONDO: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:3636655149501575149501575NC_000005.9:g.149501575C>T-
NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=)5159PDGFRBLikely benign-1RCV003121269|RCV003434693; NMONDO: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:4778315149501579149501579-
NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg)5159PDGFRBLikely benign-1RCV002628884; NMONDO: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:19805149501587149501587NC_000005.9:g.149501587C>T-
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=)5159PDGFRBLikely benign192355633RCV001471521; NMONDO: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:259151495015881495015885:g.149501588G>A-
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)5159PDGFRBLikely benign961398213RCV001456229; NMONDO: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:25915149502619149502619149502619-
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe)5159PDGFRBBenign142689325RCV000949157; NMONDO: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:36366551495026241495026245:g.149502624C>A-
NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile)5159PDGFRBLikely benign-1RCV002706277; NMONDO: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:3636655149502624149502624NC_000005.9:g.149502624C>T-
NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=)5159PDGFRBLikely benign-1RCV002628963; NMONDO: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:19805149502625149502625-
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His)5159PDGFRBConflicting interpretations of pathogenicity759436020RCV000174877|RCV002516650; NMedGen: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:60181251495026621495026625:g.149502662C>TClinGen:CA240504CN169374 not specified;
NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)5159PDGFRBLikely benign-1RCV002734910; NMONDO: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:3636655149502666149502666NC_000005.9:g.149502666G>A-
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr)5159PDGFRBUncertain significance770635073RCV001996276; NMONDO: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:25915149502672149502672149502672-
NM_002609.4(PDGFRB):c.2115C>T (p.Ser705=)5159PDGFRBLikely benign-1RCV003093570; NMONDO: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:25915149502673149502673-
NM_002609.4(PDGFRB):c.2084G>A (p.Arg695His)5159PDGFRBLikely benign-1RCV003065006; NMONDO: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:3636655149502704149502704NC_000005.9:g.149502704C>T-
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=)5159PDGFRBLikely benign753622898RCV001430969; NMONDO: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:47783151495027301495027305:g.149502730G>A-
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)5159PDGFRBUncertain significance-1RCV002616122; NMONDO: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:3636655149502734149502734NC_000005.9:g.149502734C>T-
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)5159PDGFRBBenign763239423RCV001510420; NMONDO: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:4778315149502735149502735149502735-
NC_000005.9:g.(?_149503793)_(149516630_?)dup5159PDGFRBUncertain significance-1RCV000708462|RCV001308559; NMONDO: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|M5149503793149516630-
NM_002609.4(PDGFRB):c.2023+16C>T5159PDGFRBLikely benign-1RCV002588842; NMONDO: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:25915149503797149503797NC_000005.9:g.149503797G>A-
NM_002609.4(PDGFRB):c.2023+6G>A5159PDGFRBUncertain significance-1RCV002999169; NMONDO: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:3636655149503807149503807NC_000005.9:g.149503807C>T-
NM_002609.4(PDGFRB):c.2023+5C>T5159PDGFRBUncertain significance369842668RCV002235260; NMONDO: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:259151495038081495038085:g.149503808G>AClinGen:CA3507786C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1994T>C (p.Val665Ala)5159PDGFRBPathogenic1554108211RCV000585893; NMONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:36366551495038421495038425:g.149503842A>GClinGen:CA361764564,OMIM:173410.0006C1866182 601812 Premature aging syndrome, Penttinen type;
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr)5159PDGFRBUncertain significance144050370RCV000049265|RCV001853035; NMONDO: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; M51495038581495038585:g.149503858G>TClinGen:CA143955,UniProtKB:P09619#VAR_069926,OMIM:173410.0004C0432284 228550 Infantile myofibromatosis 1;
NM_002609.4(PDGFRB):c.1971C>T (p.His657=)5159PDGFRBLikely benign138486655RCV002545987; NMONDO: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:198051495038651495038655:g.149503865G>A-
NM_002609.4(PDGFRB):c.1958A>G (p.Lys653Arg)5159PDGFRBLikely benign-1RCV002948095; NMONDO: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:3636655149503878149503878NC_000005.9:g.149503878T>C-
NM_002609.4(PDGFRB):c.1913-10T>A5159PDGFRBLikely benign-1RCV002644389; NMONDO: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:19805149503933149503933NC_000005.9:g.149503933A>T-
NM_002609.4(PDGFRB):c.1913-16C>G5159PDGFRBBenign-1RCV002624458; NMONDO: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:19805149503939149503939NC_000005.9:g.149503939G>C-
NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=)5159PDGFRBBenign-1RCV003005018; NMONDO: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:3636655149504306149504306-
NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=)5159PDGFRBLikely benign201518972RCV002548234; NMONDO: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:198051495043181495043185:g.149504318C>T-
NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met)5159PDGFRBLikely benign-1RCV002630036; NMONDO: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:19805149504319149504319NC_000005.9:g.149504319G>A-
NM_002609.4(PDGFRB):c.1872T>C (p.His624=)5159PDGFRBBenign141371542RCV000946027; NMONDO: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:47783151495043301495043305:g.149504330A>G-
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=)5159PDGFRBBenign56072663RCV000536633|RCV001637078|RCV003316725|RCV001579846; NMONDO: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:259151495043481495043485:g.149504348C>TClinGen:CA3507834C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met)5159PDGFRBUncertain significance139554380RCV001902893; NMONDO: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:4778315149504349149504349149504349-
NM_002609.4(PDGFRB):c.1842G>A (p.Val614=)5159PDGFRBLikely benign-1RCV002904617; NMONDO: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:3636655149504360149504360-
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=)5159PDGFRBLikely benign199649903RCV000883687; NMONDO: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:36366551495043841495043845:g.149504384G>A-
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys)5159PDGFRBUncertain significance541926152RCV001954447|RCV003401982; NMONDO: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:25915149504392149504392149504392-
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs)5159PDGFRBUncertain significance771859820RCV001931166; NMONDO: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:19805149505011149505011149505010-
NM_002609.4(PDGFRB):c.1788G>T (p.Pro596=)5159PDGFRBLikely benign-1RCV003063356; NMONDO: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:3636655149505027149505027-
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg)5159PDGFRBUncertain significance770027941RCV000813317; NMONDO: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:47783151495050381495050385:g.149505038A>G-
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)5159PDGFRBLikely benign367951719RCV001405786; NMONDO: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:4778315149505039149505039149505039-
NM_002609.4(PDGFRB):c.1776G>T (p.Thr592=)5159PDGFRBLikely benign-1RCV002814395; NMONDO: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:3636655149505039149505039-
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)5159PDGFRBUncertain significance1760269359RCV001070641; NMONDO: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:198051495050491495050495:g.149505049T>C-
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=)5159PDGFRBBenign/Likely benign56078873RCV000650694|RCV001580528; NMONDO: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:36366551495050541495050545:g.149505054C>TClinGen:CA3507882C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1734G>A (p.Glu578=)5159PDGFRBLikely benign2113897064RCV002133926; NMONDO: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:4778315149505081149505081149505081-
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)5159PDGFRBUncertain significance1483057981RCV001302214|RCV003416171; NMONDO: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:19805149505128149505128149505128-
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)5159PDGFRBPathogenic367543286RCV000049264|RCV000390507|RCV000454370|RCV001197225|RCV001201357; NMONDO: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,O51495051341495051345:g.149505134G>AClinGen:CA328075,UniProtKB:P09619#VAR_069925,OMIM:173410.0003CN177837 Infantile myofibromatosis;
NM_002609.4(PDGFRB):c.1675-14G>T5159PDGFRBLikely benign-1RCV003065355; NMONDO: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:3636655149505154149505154NC_000005.9:g.149505154C>A-
NM_002609.4(PDGFRB):c.1675-17T>G5159PDGFRBLikely benign-1RCV003071127; NMONDO: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:3636655149505157149505157NC_000005.9:g.149505157A>C-
NM_002609.4(PDGFRB):c.1674+9C>G5159PDGFRBLikely benign1231443369RCV002091385; NMONDO: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:3636655149506074149506074149506074-
NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val)5159PDGFRBLikely benign-1RCV002663312; NMONDO: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:4778315149506094149506094NC_000005.9:g.149506094G>C-
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)5159PDGFRBUncertain significance-1RCV002963002|RCV003348963; NMONDO: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:25915149506097149506097NC_000005.9:g.149506097T>C-
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe)5159PDGFRBUncertain significance2113898287RCV001928754; NMONDO: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:25915149506127149506127149506127-
NM_002609.4(PDGFRB):c.1629G>A (p.Val543=)5159PDGFRBLikely benign-1RCV002766039; NMONDO: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:3636655149506128149506128-
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp)5159PDGFRBConflicting interpretations of pathogenicity1760301176RCV001249591|RCV001810006; NMONDO:MONDO:0016824,MedGen:C0432284,OMIM:PS228550, Orphanet:2591|MONDO:MONDO:0011150,MedGen:C1866182,OMIM:601812, Orphanet:36366551495061471495061475:g.149506147G>T-
NM_002609.4(PDGFRB):c.1580-8G>A5159PDGFRBLikely benign-1RCV002914864; NMONDO: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:3636655149506185149506185NC_000005.9:g.149506185C>T-
NM_002609.4(PDGFRB):c.1579+10C>T5159PDGFRBBenign571420039RCV000878029; NMONDO: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:198051495093101495093105:g.149509310G>A-
NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met)5159PDGFRBLikely benign-1RCV002741832|RCV002750988; NMONDO: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:3636655149509332149509332NC_000005.9:g.149509332C>T-
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=)5159PDGFRBLikely benign1580804718RCV001414051; NMONDO: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:198051495093361495093365:g.149509336G>A-
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=)5159PDGFRBLikely benign371192118RCV000951786; NMONDO: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:198051495093451495093455:g.149509345C>A-
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=)5159PDGFRBBenign150562879RCV000951616; NMONDO: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:259151495093601495093605:g.149509360A>G-
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)5159PDGFRBUncertain significance-1RCV003073094|RCV003250750; NMONDO: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:25915149509362149509362NC_000005.9:g.149509362C>T-
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)5159PDGFRBLikely benign186555112RCV001410829|RCV003433139; NMONDO: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:25915149509363149509363149509363-
NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser)5159PDGFRBConflicting interpretations of pathogenicity-1RCV002917161|RCV003134526; NMONDO: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:3636655149509364149509364NC_000005.9:g.149509364T>C-
NM_002609.4(PDGFRB):c.1527G>T (p.Thr509=)5159PDGFRBLikely benign750725462RCV002140472; NMONDO: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:25915149509372149509372149509372-
NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=)5159PDGFRBLikely benign-1RCV002640469; NMONDO: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:19805149509372149509372-
NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met)5159PDGFRBLikely benign766614995RCV002021680; NMONDO: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:4778315149509373149509373149509373-
NM_002609.4(PDGFRB):c.1520G>A (p.Arg507His)5159PDGFRBBenign/Likely benign145823245RCV001696270|RCV002538617; NMedGen: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:6018125149509379149509379149509379-
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)5159PDGFRBBenign148974733RCV000526323|RCV001579380; NMONDO: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:259151495093941495093945:g.149509394C>TClinGen:CA3507961C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp)5159PDGFRBLikely benign142992960RCV000878451; NMONDO: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:198051495093951495093955:g.149509395G>A-
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)5159PDGFRBConflicting interpretations of pathogenicity-1RCV003078990|RCV003420320; NMONDO: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:3636655149509412149509412NC_000005.9:g.149509412C>T-
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala)5159PDGFRBLikely benign540480924RCV000650691; NMONDO: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:47783151495094271495094275:g.149509427A>GClinGen:CA3507970C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)5159PDGFRBBenign/Likely benign41287110RCV000547910|RCV003316724|RCV001796119|RCV001552896; NMONDO: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:25915149509446149509446NC_000005.9:g.149509446C>TClinGen:CA3507973C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)5159PDGFRBUncertain significance765124485RCV000821126; NMONDO: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:259151495094491495094495:g.149509449C>T-
NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met)5159PDGFRBLikely benign-1RCV002628977; NMONDO: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:19805149509457149509457NC_000005.9:g.149509457G>A-
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)5159PDGFRBBenign/Likely benign-1RCV002971792|RCV002971791; NMONDO: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:3636655149509461149509461NC_000005.9:g.149509461C>T-
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=)5159PDGFRBBenign371550567RCV000954348; NMONDO: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:47783151495094621495094625:g.149509462G>A-
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)5159PDGFRBConflicting interpretations of pathogenicity-1RCV003067116|RCV003383010; NMONDO: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:4778315149509500149509500NC_000005.9:g.149509500C>T-
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=)5159PDGFRBBenign116171826RCV000878782|RCV001692318; NMONDO: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:198051495095061495095065:g.149509506G>A-
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)5159PDGFRBBenign74943037RCV000538137|RCV003316723|RCV001573918; NMONDO: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:259151495095081495095085:g.149509508G>AClinGen:CA3507992C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His)5159PDGFRBBenign149274963RCV000878783|RCV001672980; NMONDO: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:198051495095231495095235:g.149509523C>T-
NM_002609.4(PDGFRB):c.1368-15C>T5159PDGFRBBenign777941214RCV002167011; NMONDO: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:3636655149509546149509546149509546-
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe)5159PDGFRBUncertain significance1312583190RCV002232987; NMONDO: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:36366551495101231495101235:g.149510123G>A-C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1332G>C (p.Pro444=)5159PDGFRBLikely benign-1RCV003056867|RCV003427553; NMONDO: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:25915149510137149510137-
NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=)5159PDGFRBLikely benign-1RCV002628541; NMONDO: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:19805149510137149510137-
NM_002609.4(PDGFRB):c.1302C>G (p.Val434=)5159PDGFRBLikely benign-1RCV002615313; NMONDO: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:3636655149510167149510167-
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)5159PDGFRBBenign/Likely benign199873101RCV000945324|RCV001471909|RCV002547172; NMedGen: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:61659251495101901495101905:g.149510190G>A-
NM_002609.4(PDGFRB):c.1244-4G>A5159PDGFRBLikely benign1580805805RCV001413614; NMONDO: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:47783151495102291495102295:g.149510229C>T-
NM_002609.4(PDGFRB):c.1244-5T>C5159PDGFRBLikely benign-1RCV002627908; NMONDO: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:3636655149510230149510230NC_000005.9:g.149510230A>G-
NM_002609.4(PDGFRB):c.1243+18C>T5159PDGFRBLikely benign199897509RCV002182435; NMONDO: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:4778315149511524149511524149511524-
NM_002609.4(PDGFRB):c.1243+12G>A5159PDGFRBLikely benign-1RCV003037878; NMONDO: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:25915149511530149511530NC_000005.9:g.149511530C>T-
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys)5159PDGFRBBenign200203294RCV000878292; NMONDO: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:198051495115621495115625:g.149511562G>C-
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg)5159PDGFRBLikely benign374802057RCV000704920; NMONDO: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:25915149511568149511568NC_000005.9:g.149511568T>C-C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)5159PDGFRBBenign-1RCV002913504; NMONDO: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:3636655149511630149511630-
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)5159PDGFRBBenign/Likely benign2228439RCV000559689|RCV003316722|RCV001724058|RCV001550038; NMONDO: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:259151495116361495116365:g.149511636C>GClinGen:CA3508071C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1127+17C>G5159PDGFRBLikely benign-1RCV002591804; NMONDO: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:3636655149512296149512296NC_000005.9:g.149512296G>C-
NM_002609.4(PDGFRB):c.1127+7A>G5159PDGFRBBenign-1RCV003002172; NMONDO: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:3636655149512306149512306NC_000005.9:g.149512306T>C-
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)5159PDGFRBUncertain significance-1RCV002975574; NMONDO: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:3636655149512313149512313NC_000005.9:g.149512313C>T-
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=)5159PDGFRBBenign200225593RCV000946044; NMONDO: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:47783151495123211495123215:g.149512321C>T-
NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met)5159PDGFRBLikely benign371975483RCV001550215|RCV002568314; NMedGen: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:61505149512326149512326149512326-
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys)5159PDGFRBBenign200684708RCV000951793; NMONDO: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:259151495123321495123325:g.149512332G>A-
NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=)5159PDGFRBBenign/Likely benign-1RCV002933538|RCV003434527; NMONDO: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:4778315149512351149512351-
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)5159PDGFRBBenign146064275RCV001513570; NMONDO: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:19805149512357149512357149512357-
NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys)5159PDGFRBBenign-1RCV003069749; NMONDO: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:25915149512377149512377NC_000005.9:g.149512377G>A-
NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His)5159PDGFRBLikely benign-1RCV003070065; NMONDO: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:25915149512383149512383NC_000005.9:g.149512383C>G-
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)5159PDGFRBBenign/Likely benign2229558RCV000420025|RCV001084340|RCV001199248|RCV001796032|RCV003316523; NMedGen: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:PS228551495124071495124075:g.149512407G>AClinGen:CA3508126C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=)5159PDGFRBLikely benign-1RCV002603717; NMONDO: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:3636655149512432149512432-
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)5159PDGFRBUncertain significance-1RCV003070098; NMONDO: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:25915149512446149512446NC_000005.9:g.149512446G>A-
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)5159PDGFRBUncertain significance-1RCV002296873; NMONDO: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:19805149512449149512449149512449-
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)5159PDGFRBBenign-1RCV002971807; NMONDO: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:3636655149512469149512469NC_000005.9:g.149512469G>A-
NM_002609.4(PDGFRB):c.968G>A (p.Gly323Asp)5159PDGFRBLikely benign374208706RCV001893045; NMONDO: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:4778315149512472149512472149512472-
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)5159PDGFRBLikely benign773441060RCV001396687; NMONDO: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:4778315149512477149512477149512477-
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)5159PDGFRBUncertain significance-1RCV002662814; NMONDO: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:4778315149512490149512490NC_000005.9:g.149512490C>T-
NM_002609.4(PDGFRB):c.949C>T (p.Arg317Trp)5159PDGFRBLikely benign-1RCV002928761; NMONDO: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:3636655149512491149512491NC_000005.9:g.149512491G>A-
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)5159PDGFRBBenign/Likely benign41287112RCV000335817|RCV000514246|RCV001079189|RCV003316462; NMedGen: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:C42251495124941495124945:g.149512494C>TClinGen:CA3508146CN517202 not provided;
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)5159PDGFRBBenign56069016RCV000952399|RCV001683699; NMONDO: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:259151495124951495124955:g.149512495G>A-
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)5159PDGFRBBenign-1RCV002667541; NMONDO: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:4778315149512502149512502NC_000005.9:g.149512502C>T-
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly)5159PDGFRBUncertain significance1580808180RCV000792736; NMONDO: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:259151495125031495125035:g.149512503T>C-
NM_002609.4(PDGFRB):c.921C>T (p.Asn307=)5159PDGFRBLikely benign-1RCV002650355; NMONDO: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:4778315149513162149513162-
NM_002609.4(PDGFRB):c.882G>A (p.Thr294=)5159PDGFRBBenign-1RCV003069746; NMONDO: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:25915149513201149513201-
NM_002609.4(PDGFRB):c.882G>T (p.Thr294=)5159PDGFRBLikely benign-1RCV002731122; NMONDO: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:3636655149513201149513201-
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser)5159PDGFRBUncertain significance1175765188RCV001978827; NMONDO: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:3636655149513208149513208149513208-
NM_002609.4(PDGFRB):c.858G>A (p.Ser286=)5159PDGFRBLikely benign778116813RCV002540907; NMONDO: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:47783151495132251495132255:g.149513225C>T-
NM_002609.4(PDGFRB):c.843C>T (p.Ala281=)5159PDGFRBBenign-1RCV002993607; NMONDO: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:3636655149513240149513240-
NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys)5159PDGFRBLikely benign-1RCV003088199; NMONDO: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:25915149513266149513266NC_000005.9:g.149513266G>A-
NM_002609.4(PDGFRB):c.779C>T (p.Pro260Leu)5159PDGFRBLikely benign-1RCV003069313; NMONDO: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:25915149513304149513304NC_000005.9:g.149513304G>A-
NM_002609.4(PDGFRB):c.760-10G>T5159PDGFRBLikely benign-1RCV002811928; NMONDO: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:4778315149513333149513333NC_000005.9:g.149513333C>A-
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)5159PDGFRBUncertain significance-1RCV002760857; NMONDO: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:3636655149513458149513458NC_000005.9:g.149513458A>G-
NM_002609.4(PDGFRB):c.735C>T (p.Phe245=)5159PDGFRBLikely benign765554311RCV002120009; NMONDO: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:4778315149513468149513468149513468-
NM_002609.4(PDGFRB):c.729C>T (p.Val243=)5159PDGFRBLikely benign758566697RCV002154516; NMONDO: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:4778315149513474149513474149513474-
NM_002609.4(PDGFRB):c.726G>C (p.Val242=)5159PDGFRBLikely benign149027530RCV000911557; NMONDO: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:36366551495134771495134775:g.149513477C>G-
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=)5159PDGFRBBenign/Likely benign41287114RCV001796825|RCV001796322|RCV000949206; NMedGen: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:C04351495134891495134895:g.149513489G>A-
NM_002609.4(PDGFRB):c.657C>T (p.Asn219=)5159PDGFRBLikely benign745467275RCV002066246; NMONDO: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:198051495135461495135465:g.149513546G>A-
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile)5159PDGFRBUncertain significance370817438RCV002020588; NMONDO: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:4778315149513557149513557149513557-
NM_002609.4(PDGFRB):c.646G>C (p.Val216Leu)5159PDGFRBLikely benign-1RCV003030943; NMONDO: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:25915149513557149513557NC_000005.9:g.149513557C>G-
NM_002609.4(PDGFRB):c.645C>T (p.Asn215=)5159PDGFRBBenign-1RCV002895105; NMONDO: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:3636655149513558149513558-
NM_002609.4(PDGFRB):c.631+1G>A5159PDGFRBUncertain significance111491260RCV001316522; NMONDO: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:4778315149514312149514312149514312-
NM_002609.4(PDGFRB):c.624A>C (p.Arg208Ser)5159PDGFRBLikely benign-1RCV002882172|RCV002885641; NMONDO: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:3636655149514320149514320NC_000005.9:g.149514320T>G-
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)5159PDGFRBLikely benign756283680RCV001411835; NMONDO: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:25915149514329149514329149514329-
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys)5159PDGFRBBenign116642123RCV000952084|RCV001692327; NMONDO: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:259151495143541495143545:g.149514354C>T-
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)5159PDGFRBBenign/Likely benign2229560RCV000878806|RCV001573941; NMONDO: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:198051495143631495143635:g.149514363A>G-
NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser)5159PDGFRBLikely benign-1RCV002615971; NMONDO: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:3636655149514369149514369NC_000005.9:g.149514369G>C-
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)5159PDGFRBUncertain significance-1RCV003105017; NMONDO: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:3636655149514369149514369NC_000005.9:g.149514369G>A-
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)5159PDGFRBLikely benign-1RCV003071101; NMONDO: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:3636655149514402149514402NC_000005.9:g.149514402C>G-
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)5159PDGFRBLikely benign574853772RCV001468838|RCV002561299; NMONDO: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:4778315149514403149514403149514403-
NM_002609.4(PDGFRB):c.529C>T (p.Arg177Cys)5159PDGFRBLikely benign-1RCV002716312; NMONDO: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:3636655149514415149514415NC_000005.9:g.149514415G>A-
NM_002609.4(PDGFRB):c.499G>A (p.Val167Ile)5159PDGFRBLikely benign144857517RCV002215126; NMONDO: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:25915149514445149514445149514445-
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)5159PDGFRBBenign147141808RCV001516041; NMONDO: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:19805149514458149514458149514458-
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys)5159PDGFRBUncertain significance1562011077RCV002233444; NMONDO: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:3636655149514460149514460NC_000005.9:g.149514460C>T-C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)5159PDGFRBUncertain significance-1RCV002944100; NMONDO: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:3636655149514484149514484NC_000005.9:g.149514484G>A-
NM_002609.4(PDGFRB):c.438C>A (p.Thr146=)5159PDGFRBLikely benign764023871RCV002065743; NMONDO: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:259151495145061495145065:g.149514506G>T-
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)5159PDGFRBConflicting interpretations of pathogenicity138830253RCV001765041|RCV002540233|RCV002496084; NMedGen: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:6165925149514525149514525149514525-
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=)5159PDGFRBLikely benign751600349RCV001458226; NMONDO: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:259151495145481495145485:g.149514548G>A-
NM_002609.4(PDGFRB):c.390T>C (p.Asn130=)5159PDGFRBLikely benign-1RCV003020535; NMONDO: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:25915149514554149514554-
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)5159PDGFRBLikely benign371293050RCV001227662; NMONDO: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:36366551495145671495145675:g.149514567C>T-
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)5159PDGFRBUncertain significance-1RCV002284708|RCV003097673; NMedGen: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:61505149514567149514567149514567-
NM_002609.4(PDGFRB):c.365-4G>T5159PDGFRBBenign139448702RCV000540845|RCV003316727; NMONDO: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:25915149514583149514583NC_000005.9:g.149514583C>AClinGen:CA3508325C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.365-5G>C5159PDGFRBLikely benign-1RCV002631667; NMONDO: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:3636655149514584149514584NC_000005.9:g.149514584C>G-
NM_002609.4(PDGFRB):c.365-13C>T5159PDGFRBLikely benign-1RCV003073233; NMONDO: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:25915149514592149514592NC_000005.9:g.149514592G>A-
NM_002609.4(PDGFRB):c.364+44C>T5159PDGFRBBenign740750RCV001595730|RCV001788597|RCV001788598|RCV001788596; NMedGen: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:19805149515074149515074149515074-
NM_002609.4(PDGFRB):c.351C>T (p.Tyr117=)5159PDGFRBLikely benign-1RCV002580083; NMONDO: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:25915149515131149515131-
NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln)5159PDGFRBBenign-1RCV003083879; NMONDO: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:25915149515138149515138NC_000005.9:g.149515138C>T-
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)5159PDGFRBLikely benign-1RCV002927873; NMONDO: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:3636655149515144149515144NC_000005.9:g.149515144C>T-
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)5159PDGFRBBenign749932332RCV001247392; NMONDO: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:198051495151481495151485:g.149515148C>T-
NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn)5159PDGFRBLikely benign558122968RCV001730214|RCV002539790; NMedGen: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:PS22855149515151149515151149515151-
NM_002609.4(PDGFRB):c.330C>T (p.Thr110=)5159PDGFRBLikely benign755333624RCV002540219; NMONDO: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:259151495151521495151525:g.149515152G>A-
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)5159PDGFRBLikely benign147303614RCV000951783|RCV001579595|RCV002547222; NMONDO: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:259151495152191495152195:g.149515219G>A-
NM_002609.4(PDGFRB):c.259C>T (p.Leu87=)5159PDGFRBLikely benign-1RCV003006354; NMONDO: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:25915149515223149515223-
NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)5159PDGFRBBenign-1RCV002891157; NMONDO: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:3636655149515232149515232NC_000005.9:g.149515232C>T-
NM_002609.4(PDGFRB):c.225G>A (p.Lys75=)5159PDGFRBLikely benign-1RCV003026691; NMONDO: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:3636655149515257149515257-
NM_002609.4(PDGFRB):c.177G>A (p.Pro59=)5159PDGFRBLikely benign-1RCV002894397; NMONDO: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:3636655149515305149515305-
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)5159PDGFRBConflicting interpretations of pathogenicity202213873RCV001223591|RCV002563647; NMONDO: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:259151495153061495153065:g.149515306G>A-
NM_002609.4(PDGFRB):c.168T>A (p.Gly56=)5159PDGFRBLikely benign532483221RCV002120208; NMONDO: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:4778315149515314149515314149515314-
NM_002609.4(PDGFRB):c.102C>T (p.Val34=)5159PDGFRBBenign17708515RCV000534511|RCV001712517|RCV003316721; NMONDO: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:259151495153801495153805:g.149515380G>AClinGen:CA3508412C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser)5159PDGFRBUncertain significance761286709RCV001773882|RCV002540243; NMedGen: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:6165925149515388149515388149515388-
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)5159PDGFRBBenign17110944RCV000246485|RCV000551181|RCV001573749|RCV003316402; NMedGen: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:6165925149515397149515397NC_000005.9:g.149515397T>AUniProtKB:P09619#VAR_034377,ClinGen:CA3508416C3554321 615007 Basal ganglia calcification, idiopathic, 4;
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)5159PDGFRBUncertain significance148853962RCV001070780; NMONDO: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:198051495154391495154395:g.149515439C>T-
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)5159PDGFRBLikely benign145316660RCV001431878; NMONDO: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:19805149515440149515440149515440-
NM_002609.4(PDGFRB):c.40+19_40+23del5159PDGFRBLikely benign-1RCV002794767; NMONDO: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:3636655149516548149516552NC_000005.9:g.149516550_149516554del-
NM_002609.4(PDGFRB):c.40+16A>G5159PDGFRBUncertain significance-1RCV002918990; NMONDO: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:3636655149516555149516555NC_000005.9:g.149516555T>C-
NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val)5159PDGFRBLikely benign150173975RCV002100466|RCV003007102; NMONDO: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:19805149516594149516594149516594-
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)5159PDGFRBUncertain significance-1RCV002303198; NMONDO: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:19805149516594149516594149516594-
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=)5159PDGFRBBenign138641101RCV000952400|RCV001698675; NMONDO: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:259151495165991495165995:g.149516599C>T-
MSeqDR Portal