"GeneDx"[submitter] AND "PDGFB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 1279656	NM_002608.4(PDGFB):c.*28+155T>C	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266971	NM_002608.4(PDGFB):c.*28+121C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226480	NM_002608.4(PDGFB):c.*18TG[2]	PDGFB	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 2505942	NM_002608.4(PDGFB):c.724T>C (p.Ter242Gln)	PDGFB	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 1315886	NM_002608.4(PDGFB):c.670_684del (p.Arg224_His228del)	PDGFB	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 522278	NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp)	PDGFB (R224W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3369118	NM_002608.4(PDGFB):c.658A>C (p.Lys220Gln)	PDGFB (K205Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777710	NM_002608.4(PDGFB):c.657C>A (p.Pro219=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3373440	NM_002608.4(PDGFB):c.640C>G (p.Arg214Gly)	PDGFB (R199G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522279	NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)	PDGFB (T212M +1 more)	Single nucleotide variant (missense variant)	Dermatofibrosarcoma protuberans +1 more	GBenign/Likely benign
Select item 1250450	NM_002608.4(PDGFB):c.602-41A>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252572	NM_002608.4(PDGFB):c.602-206G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191578	NM_002608.4(PDGFB):c.602-244G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182284	NM_002608.4(PDGFB):c.601+65G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1690643	NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)	PDGFB (R185* +1 more)	Single nucleotide variant (nonsense)	Basal ganglia calcification, idiopathic, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2251893	NM_002608.4(PDGFB):c.597G>T (p.Gln199His)	PDGFB (Q199H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1208241	NM_002608.4(PDGFB):c.572G>A (p.Arg191Gln)	PDGFB (R176Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2189522	NM_002608.4(PDGFB):c.559C>T (p.Arg187Trp)	PDGFB (R187W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1318513	NM_002608.4(PDGFB):c.502G>T (p.Ala168Ser)	PDGFB (A153S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316996	NM_002608.4(PDGFB):c.457G>A (p.Val153Met)	PDGFB (V138M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320974	NM_002608.4(PDGFB):c.457-2A>G	PDGFB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1230283	NM_002608.4(PDGFB):c.457-142T>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233058	NM_002608.4(PDGFB):c.457-186G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214113	NM_002608.4(PDGFB):c.457-309C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182039	NM_002608.4(PDGFB):c.456+248C>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188397	NM_002608.4(PDGFB):c.453C>G (p.Val151=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 75243	NM_002608.4(PDGFB):c.445C>T (p.Arg149Ter)	PDGFB (R149* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 75237	NM_002608.4(PDGFB):c.433C>T (p.Gln145Ter)	PDGFB (Q145* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 372686	NM_002608.4(PDGFB):c.386G>A (p.Arg129His)	PDGFB (R129H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687711	NM_002608.4(PDGFB):c.328C>G (p.Leu110Val)	PDGFB (L110V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967403	NM_002608.4(PDGFB):c.316A>G (p.Ile106Val)	PDGFB (I106V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679380	NM_002608.4(PDGFB):c.298C>T (p.Arg100Cys)	PDGFB (R100C +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5 +1 more	GUncertain significance
Select item 725856	NM_002608.4(PDGFB):c.262A>G (p.Ile88Val)	PDGFB (I73V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1328655	NM_002608.4(PDGFB):c.251-12G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231482	NM_002608.4(PDGFB):c.250+111G>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214967	NM_002608.4(PDGFB):c.250+67C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282193	NM_002608.4(PDGFB):c.250+22A>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3253028	NM_002608.4(PDGFB):c.213C>T (p.Gly71=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1316457	NM_002608.4(PDGFB):c.169G>C (p.Gly57Arg)	PDGFB (G42R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202566	NM_002608.4(PDGFB):c.169G>A (p.Gly57Arg)	PDGFB (G42R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262479	NM_002608.4(PDGFB):c.161-80C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220879	NM_002608.4(PDGFB):c.160+236A>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286714	NM_002608.4(PDGFB):c.160+70A>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232896	NM_002608.4(PDGFB):c.160+36G>C	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 522280	NM_002608.4(PDGFB):c.160+15C>A	PDGFB	Single nucleotide variant (intron variant)	Dermatofibrosarcoma protuberans +1 more	GBenign
Select item 3367288	NM_002608.4(PDGFB):c.104A>G (p.Asp35Gly)	PDGFB (D20G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247622	NM_002608.4(PDGFB):c.64-84C>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227920	NM_002608.4(PDGFB):c.63+3320G>C	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683869	NM_002608.4(PDGFB):c.63+3077T>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213082	NM_002608.4(PDGFB):c.63+3053A>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2663641	NM_002608.4(PDGFB):c.63+3048T>C	PDGFB	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1229747	NM_002608.4(PDGFB):c.63+2987GA[12]	PDGFB	Microsatellite (intron variant)	not provided	GBenign
Select item 1229741	NM_002608.4(PDGFB):c.63+2981_63+2982del	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GBenign
Select item 1693356	NM_002608.4(PDGFB):c.63+2960TG[11]	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1277144	NM_002608.4(PDGFB):c.63+2960TG[12]	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GBenign
Select item 1183063	NM_002608.4(PDGFB):c.63+2960TG[9]	PDGFB, LOC130067453	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1234083	NM_002608.4(PDGFB):c.63+2978T>C	LOC130067453, PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294448	NM_002608.4(PDGFB):c.63+2976T>C	LOC130067453, PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245773	NM_002608.4(PDGFB):c.63+2958_63+2961del	LOC130067453, PDGFB	Deletion (intron variant)	not provided	GBenign
Select item 1233918	NM_002608.4(PDGFB):c.63+2942AG[8]	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GBenign
Select item 1220886	NM_002608.4(PDGFB):c.63+2958A>T	LOC130067453, PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242290	NM_002608.4(PDGFB):c.63+53C>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 379331	NM_002608.4(PDGFB):c.2T>G (p.Met1Arg)	PDGFB (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1201004	NM_002608.4(PDGFB):c.-132A>G	PDGFB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1256642	NM_002608.4(PDGFB):c.-735G>A	PDGFB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1252724	NM_002608.4(PDGFB):c.-790TCGCAGC[2]	PDGFB	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1189254	NC_000022.11:g.39245088dup	PDGFB	Duplication	not provided	GLikely benign
Select item 1190197	NC_000022.11:g.39245256T>A	PDGFB	Single nucleotide variant	not provided	GLikely benign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71