ClinVar for Gene (Select 5155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3210826	NM_002608.4(PDGFB):c.620G>A (p.Arg207Gln)	PDGFB (R192Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210825	NM_002608.4(PDGFB):c.608C>T (p.Thr203Met)	PDGFB (T188M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210824	NM_002608.4(PDGFB):c.424C>T (p.Arg142Cys)	PDGFB (R142C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210823	NM_002608.4(PDGFB):c.415G>A (p.Val139Met)	PDGFB (V139M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210822	NM_002608.4(PDGFB):c.326G>A (p.Arg109His)	PDGFB (R109H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3054424	NM_002608.4(PDGFB):c.468C>A (p.Ile156=)	PDGFB	Single nucleotide variant (synonymous variant)	PDGFB-related disorder	GLikely benign
Select item 3048695	NM_002608.4(PDGFB):c.*7C>T	PDGFB	Single nucleotide variant (3 prime UTR variant)	PDGFB-related disorder	GLikely benign
Select item 3034328	NM_002608.4(PDGFB):c.468C>T (p.Ile156=)	PDGFB	Single nucleotide variant (synonymous variant)	PDGFB-related disorder	GLikely benign
Select item 3026228	NM_002608.4(PDGFB):c.478C>T (p.Arg160Trp)	PDGFB (R145W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3021939	NM_002608.4(PDGFB):c.657C>T (p.Pro219=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001778	NM_002608.4(PDGFB):c.251-20C>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2920728	NM_002608.4(PDGFB):c.-318C>T	PDGFB	Single nucleotide variant (5 prime UTR variant)	Basal ganglia calcification, idiopathic, 5	GLikely pathogenic
Select item 2920727	NM_002608.4(PDGFB):c.-373C>G	PDGFB	Single nucleotide variant (5 prime UTR variant)	Basal ganglia calcification, idiopathic, 5	GLikely pathogenic
Select item 2906375	NM_002608.4(PDGFB):c.700G>A (p.Ala234Thr)	PDGFB (A219T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896716	NM_002608.4(PDGFB):c.63+10C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2896703	NM_002608.4(PDGFB):c.366G>A (p.Pro122=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883960	NM_002608.4(PDGFB):c.251-7C>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2874449	NM_002608.4(PDGFB):c.385C>T (p.Arg129Cys)	PDGFB (R114C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2873806	NM_002608.4(PDGFB):c.107A>G (p.His36Arg)	PDGFB (H36R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867792	NM_002608.4(PDGFB):c.250+14A>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860967	NM_002608.4(PDGFB):c.449C>T (p.Pro150Leu)	PDGFB (P135L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834664	NM_002608.4(PDGFB):c.715C>G (p.Leu239Val)	PDGFB (L224V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788081	NM_002608.4(PDGFB):c.29C>T (p.Ser10Phe)	PDGFB (S10F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785932	NM_002608.4(PDGFB):c.274G>T (p.Ala92Ser)	PDGFB (A77S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747871	NM_002608.4(PDGFB):c.456+10C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2737046	NM_002608.4(PDGFB):c.26T>G (p.Leu9Arg)	PDGFB (L9R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2725521	NM_002608.4(PDGFB):c.289T>C (p.Cys97Arg)	PDGFB (C97R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724253	NM_002608.4(PDGFB):c.691G>T (p.Asp231Tyr)	PDGFB (D216Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720775	NM_002608.4(PDGFB):c.725A>G (p.Ter242Trp)	PDGFB	Single nucleotide variant (stop lost)	not provided	GUncertain significance
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 2653145	NM_002608.4(PDGFB):c.63+424G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653144	NM_002608.4(PDGFB):c.63+943_63+948dup	PDGFB	Duplication (intron variant)	not provided	GLikely benign
Select item 2653143	NM_002608.4(PDGFB):c.64-2817G>C	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653142	NM_002608.4(PDGFB):c.579G>A (p.Pro193=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633031	NM_002608.4(PDGFB):c.64-6C>A	PDGFB	Single nucleotide variant (intron variant)	PDGFB-related disorder	GUncertain significance
Select item 2630754	NM_002608.4(PDGFB):c.152A>G (p.Asp51Gly)	PDGFB (D36G +1 more)	Single nucleotide variant (missense variant)	PDGFB-related disorder	GUncertain significance
Select item 2585196	NM_002608.4(PDGFB):c.434A>C (p.Gln145Pro)	PDGFB (Q130P +1 more)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 2525342	NM_002608.4(PDGFB):c.79G>A (p.Glu27Lys)	PDGFB (E27K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505942	NM_002608.4(PDGFB):c.724T>C (p.Ter242Gln)	PDGFB	Single nucleotide variant (stop lost)	not provided	GLikely pathogenic
Select item 2479071	NM_002608.4(PDGFB):c.619C>T (p.Arg207Trp)	PDGFB (R207W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434629	NM_002608.4(PDGFB):c.17C>T (p.Ala6Val)	PDGFB (A6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2415284	NM_002608.4(PDGFB):c.456+5G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2405348	NM_002608.4(PDGFB):c.631C>T (p.Arg211Trp)	PDGFB (R211W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367077	NM_002608.4(PDGFB):c.338G>A (p.Arg113His)	PDGFB (R98H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2352264	NM_002608.4(PDGFB):c.656C>G (p.Pro219Arg)	PDGFB (P219R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264365	NM_002608.4(PDGFB):c.506C>T (p.Thr169Met)	PDGFB (T169M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261515	NM_002608.4(PDGFB):c.278T>C (p.Met93Thr)	PDGFB (M93T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2251895	NM_002608.4(PDGFB):c.686C>T (p.Thr229Met)	PDGFB (T214M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251893	NM_002608.4(PDGFB):c.597G>T (p.Gln199His)	PDGFB (Q199H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232887	NM_002608.4(PDGFB):c.136C>T (p.Arg46Cys)	PDGFB (R31C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2190344	NM_002608.4(PDGFB):c.599G>A (p.Arg200Gln)	PDGFB (R185Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2187361	NM_002608.4(PDGFB):c.560G>A (p.Arg187Gln)	PDGFB (R187Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2185154	NM_002608.4(PDGFB):c.578C>T (p.Pro193Leu)	PDGFB (P193L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2171240	NM_002608.4(PDGFB):c.656C>T (p.Pro219Leu)	PDGFB (P204L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163377	NM_002608.4(PDGFB):c.285C>T (p.Ala95=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2103263	NM_002608.4(PDGFB):c.153C>T (p.Asp51=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073161	NM_002608.4(PDGFB):c.270G>A (p.Glu90=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065117	NM_002608.4(PDGFB):c.110C>T (p.Ser37Leu)	PDGFB (S22L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052566	NM_002608.4(PDGFB):c.456+4C>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2030849	NM_002608.4(PDGFB):c.589C>T (p.Gln197Ter)	PDGFB (Q182* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2014034	NM_002608.4(PDGFB):c.512del (p.Thr171fs)	PDGFB (T156fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1989434	NM_002608.4(PDGFB):c.456+15C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987815	NM_002608.4(PDGFB):c.88T>C (p.Tyr30His)	PDGFB (Y15H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981840	NM_002608.4(PDGFB):c.687G>A (p.Thr229=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975696	NM_002608.4(PDGFB):c.682C>A (p.His228Asn)	PDGFB (H213N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966038	NM_002608.4(PDGFB):c.528G>A (p.Leu176=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954342	NM_002608.4(PDGFB):c.190A>G (p.Met64Val)	PDGFB (M64V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952896	NM_002608.4(PDGFB):c.614A>C (p.Gln205Pro)	PDGFB (Q205P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940702	NM_002608.4(PDGFB):c.703C>G (p.Leu235Val)	PDGFB (L220V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927816	NM_002608.4(PDGFB):c.178T>C (p.Leu60=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899248	NM_002608.4(PDGFB):c.251-20C>T	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897036	NM_002608.4(PDGFB):c.161-15T>C	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879559	NM_002608.4(PDGFB):c.63+356C>G	PDGFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1806159	NM_002608.4(PDGFB):c.70C>A (p.Pro24Thr)	PDGFB (P24T +1 more)	Single nucleotide variant (missense variant)	Basal ganglia calcification, idiopathic, 5	GUncertain significance
Select item 1723299	NM_002608.4(PDGFB):c.313G>A (p.Glu105Lys)	PDGFB (E105K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693356	NM_002608.4(PDGFB):c.63+2960TG[11]	LOC130067453, PDGFB	Microsatellite (intron variant)	not provided	GLikely benign
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 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 1684997	NM_002608.4(PDGFB):c.562C>T (p.Pro188Ser)	PDGFB (P173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683869	NM_002608.4(PDGFB):c.63+3077T>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1677375	NM_002608.4(PDGFB):c.209G>A (p.Gly70Glu)	PDGFB (G55E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626703	NM_002608.4(PDGFB):c.647G>A (p.Arg216His)	PDGFB (R201H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1600252	NM_002608.4(PDGFB):c.699G>A (p.Thr233=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1597958	NM_002608.4(PDGFB):c.57C>T (p.Ser19=)	PDGFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	SGSM3, SNORD139 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1384828	NM_002608.4(PDGFB):c.18_19dup (p.Leu7fs)	PDGFB (L7fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1328655	NM_002608.4(PDGFB):c.251-12G>A	PDGFB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320974	NM_002608.4(PDGFB):c.457-2A>G	PDGFB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 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 1315886	NM_002608.4(PDGFB):c.670_684del (p.Arg224_His228del)	PDGFB	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1294448	NM_002608.4(PDGFB):c.63+2976T>C	LOC130067453, 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

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