ClinVar for Gene (Select 5157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305500	NM_001372073.1(PDGFRL):c.244G>A (p.Ala82Thr)	PDGFRL (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305499	NM_001372073.1(PDGFRL):c.397T>C (p.Ser133Pro)	PDGFRL (S133P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305498	NM_001372073.1(PDGFRL):c.910G>A (p.Glu304Lys)	PDGFRL (E304K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305497	NM_001372073.1(PDGFRL):c.627G>T (p.Arg209Ser)	PDGFRL (R209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210853	NM_001372073.1(PDGFRL):c.812C>G (p.Pro271Arg)	PDGFRL (P271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210852	NM_001372073.1(PDGFRL):c.532C>T (p.Pro178Ser)	PDGFRL (P178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210851	NM_001372073.1(PDGFRL):c.491A>G (p.Tyr164Cys)	PDGFRL (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210850	NM_001372073.1(PDGFRL):c.347G>A (p.Arg116His)	PDGFRL (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210849	NM_001372073.1(PDGFRL):c.346C>T (p.Arg116Cys)	PDGFRL (R116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210848	NM_001372073.1(PDGFRL):c.312C>G (p.Ser104Arg)	PDGFRL (S104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210847	NM_001372073.1(PDGFRL):c.286T>C (p.Cys96Arg)	PDGFRL (C96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2658444	NM_001372073.1(PDGFRL):c.980T>A (p.Ile327Asn)	PDGFRL (I327N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2605340	NM_001372073.1(PDGFRL):c.807T>G (p.Ser269Arg)	PDGFRL (S269R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594037	NM_001372073.1(PDGFRL):c.241G>A (p.Ala81Thr)	PDGFRL (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591167	NM_001372073.1(PDGFRL):c.823A>G (p.Thr275Ala)	PDGFRL (T275A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2534452	NM_001372073.1(PDGFRL):c.1064A>C (p.Tyr355Ser)	PDGFRL (Y355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531225	NM_001372073.1(PDGFRL):c.800T>A (p.Val267Asp)	PDGFRL (V267D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530014	NM_001372073.1(PDGFRL):c.921G>C (p.Trp307Cys)	PDGFRL (W307C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529915	NM_001372073.1(PDGFRL):c.151A>G (p.Lys51Glu)	PDGFRL (K51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511625	NM_001372073.1(PDGFRL):c.821C>A (p.Thr274Lys)	PDGFRL (T274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	not provided	GUncertain significance
Select item 2398140	NM_001372073.1(PDGFRL):c.1118A>G (p.Glu373Gly)	PDGFRL (E373G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397173	NM_001372073.1(PDGFRL):c.949C>T (p.Pro317Ser)	PDGFRL (P317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387953	NM_001372073.1(PDGFRL):c.39C>G (p.His13Gln)	PDGFRL (H13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367401	NM_001372073.1(PDGFRL):c.404C>T (p.Ser135Leu)	PDGFRL (S135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306872	NM_001372073.1(PDGFRL):c.376G>A (p.Gly126Ser)	PDGFRL (G126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303212	NM_001372073.1(PDGFRL):c.821C>T (p.Thr274Ile)	PDGFRL (T274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286150	NM_001372073.1(PDGFRL):c.784C>G (p.Leu262Val)	PDGFRL (L262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254281	NM_001372073.1(PDGFRL):c.373T>C (p.Tyr125His)	PDGFRL (Y125H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206607	NM_001372073.1(PDGFRL):c.833C>T (p.Ala278Val)	PDGFRL (A278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204488	NM_001372073.1(PDGFRL):c.1121T>G (p.Phe374Cys)	PDGFRL (F374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527422	GRCh37/hg19 8p22-21.3(chr8:15935542-19321304)	ASAH1, ASAH1-AS1 +17 more	Copy number gain	not specified	GUncertain significance
Select item 1377072	NC_000008.10:g.(?_16850399)_(20112692_?)dup	CNOT7, CSGALNACT1 +21 more	Duplication	Hereditary spastic paraplegia 53	GUncertain significance
Select item 1048868	NM_001372073.1(PDGFRL):c.408A>G (p.Ala136=)	PDGFRL	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 730123	NM_001372073.1(PDGFRL):c.12G>T (p.Trp4Cys)	PDGFRL (W4C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714376	NM_001372073.1(PDGFRL):c.249C>A (p.Thr83=)	PDGFRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714375	NM_001372073.1(PDGFRL):c.206T>C (p.Met69Thr)	PDGFRL (M69T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689081	GRCh37/hg19 8p22(chr8:17457722-17520324)x3	MTUS1, PDGFRL	Copy number gain	not provided	GUncertain significance
Select item 688797	GRCh37/hg19 8p22(chr8:17474031-17883039)x1	FGL1, MTUS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688154	GRCh37/hg19 8p22(chr8:17487884-17883260)x1	FGL1, MTUS1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 685944	GRCh37/hg19 8p22(chr8:17465054-17864004)x3	FGL1, MTUS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 503589	GRCh37/hg19 8p22(chr8:17294405-17919470)x3	ASAH1, PCM1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442555	GRCh37/hg19 8p23.1-22(chr8:11935023-18814062)x3	ASAH1, ASAH1-AS1 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394721	GRCh37/hg19 8p22(chr8:16657256-17861898)x3	CNOT7, FGF20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 394656	GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4	AGPAT5, ANGPT2 +86 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149248	GRCh38/hg38 8p22(chr8:17389229-17925178)x3	FGL1, LOC113788268 +19 more	Copy number gain	See cases	GLikely benign
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic

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