PDPR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 147721	GRCh38/hg38 16q22.1(chr16:70018261-70160039)x1	LOC130059322, LOC130059323 +3 more	Copy number loss	See cases	GBenign
Select item 147009	GRCh38/hg38 16q22.1(chr16:70088002-70162852)x3	LOC130059323, LOC400541 +1 more	Copy number gain	See cases	GBenign
Select item 147224	GRCh38/hg38 16q22.1(chr16:70114858-70162852)x3	LOC400541, PDPR	Copy number gain	See cases	GBenign
Select item 154909	GRCh38/hg38 16q22.1(chr16:70118880-70203727)x3	CLEC18C, LOC105371328 +2 more	Copy number gain	See cases	GLikely benign
Select item 3305597	NM_017990.5(PDPR):c.6G>A (p.Met2Ile)	PDPR (M2I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211067	NM_017990.5(PDPR):c.82A>G (p.Ser28Gly)	PDPR (S28G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 156437	NM_017990.5(PDPR):c.85A>G (p.Thr29Ala)	PDPR (T29A)	Single nucleotide variant (missense variant +2 more)	not provided	Gnot provided
Select item 2646674	NM_017990.5(PDPR):c.124C>G (p.Gln42Glu)	PDPR (Q42E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3211054	NM_017990.5(PDPR):c.176A>C (p.Tyr59Ser)	PDPR (Y59S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3211063	NM_017990.5(PDPR):c.244A>G (p.Thr82Ala)	PDPR (T82A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518711	NM_017990.5(PDPR):c.250T>C (p.Phe84Leu)	PDPR (F84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305601	NM_017990.5(PDPR):c.301A>G (p.Met101Val)	PDPR (M101V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 768784	NM_017990.5(PDPR):c.328T>C (p.Tyr110His)	PDPR (Y110H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2495025	NM_017990.5(PDPR):c.425G>A (p.Arg142His)	PDPR (R42H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211064	NM_017990.5(PDPR):c.449T>C (p.Ile150Thr)	PDPR (I150T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211065	NM_017990.5(PDPR):c.493C>T (p.Leu165Phe)	PDPR (L65F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305598	NM_017990.5(PDPR):c.511G>A (p.Val171Met)	PDPR (V171M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211066	NM_017990.5(PDPR):c.517G>T (p.Asp173Tyr)	PDPR (D173Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355582	NM_017990.5(PDPR):c.523G>C (p.Val175Leu)	PDPR (V175L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207653	NM_017990.5(PDPR):c.544G>C (p.Glu182Gln)	PDPR (E82Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304923	NM_017990.5(PDPR):c.593C>G (p.Ala198Gly)	PDPR (A98G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407820	NM_017990.5(PDPR):c.625C>T (p.Arg209Trp)	PDPR (R109W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259304	NM_017990.5(PDPR):c.671G>C (p.Gly224Ala)	PDPR (G124A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321663	NM_017990.5(PDPR):c.739G>A (p.Glu247Lys)	PDPR (E147K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305600	NM_017990.5(PDPR):c.745G>C (p.Gly249Arg)	PDPR (G149R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539338	NM_017990.5(PDPR):c.782A>G (p.His261Arg)	PDPR (H161R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250671	NM_017990.5(PDPR):c.852T>C (p.Ile284=)	PDPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2293260	NM_017990.5(PDPR):c.881G>A (p.Arg294Gln)	PDPR (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356398	NM_017990.5(PDPR):c.884A>C (p.Asn295Thr)	PDPR (N295T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211069	NM_017990.5(PDPR):c.957G>T (p.Gln319His)	PDPR (Q219H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211051	NM_017990.5(PDPR):c.1059G>C (p.Lys353Asn)	PDPR (K253N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646675	NM_017990.5(PDPR):c.1086A>T (p.Thr362=)	PDPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1262293	NM_017990.5(PDPR):c.1123G>T (p.Val375Leu)	PDPR (V275L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2554643	NM_017990.5(PDPR):c.1127A>G (p.Gln376Arg)	PDPR (Q376R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312473	NM_017990.5(PDPR):c.1138G>A (p.Val380Ile)	PDPR (V280I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570572	NM_017990.5(PDPR):c.1234G>A (p.Val412Ile)	PDPR (V10I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519216	NM_017990.5(PDPR):c.1255C>T (p.Arg419Cys)	PDPR (R319C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395602	NM_017990.5(PDPR):c.1274G>A (p.Ser425Asn)	PDPR (S425N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211052	NM_017990.5(PDPR):c.1288C>G (p.Leu430Val)	PDPR (L430V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559932	NM_017990.5(PDPR):c.1297C>T (p.Arg433Trp)	PDPR (R31W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374212	NM_017990.5(PDPR):c.1300G>A (p.Val434Ile)	PDPR (V434I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462333	NM_017990.5(PDPR):c.1304T>C (p.Met435Thr)	PDPR (M335T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 183316	NM_017990.5(PDPR):c.1360G>T (p.Gly454Cys)	PDPR (G454C +2 more)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 2473279	NM_017990.5(PDPR):c.1379C>G (p.Ser460Cys)	PDPR (S460C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403333	NM_017990.5(PDPR):c.1384C>G (p.Leu462Val)	PDPR (L362V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366709	NM_017990.5(PDPR):c.1402G>T (p.Ala468Ser)	PDPR (A368S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287242	NM_017990.5(PDPR):c.1550G>A (p.Cys517Tyr)	PDPR (C115Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470671	NM_017990.5(PDPR):c.1639T>C (p.Tyr547His)	PDPR (Y447H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211053	NM_017990.5(PDPR):c.1681G>C (p.Val561Leu)	PDPR (V561L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323875	NM_017990.5(PDPR):c.1690G>A (p.Gly564Ser)	PDPR (G564S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508821	NM_017990.5(PDPR):c.1706G>A (p.Gly569Asp)	PDPR (G167D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646676	NM_017990.5(PDPR):c.1867+3dup	PDPR	Duplication (intron variant)	not provided	GLikely benign
Select item 3211055	NM_017990.5(PDPR):c.1900G>A (p.Val634Met)	PDPR (V232M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211056	NM_017990.5(PDPR):c.1910A>C (p.Glu637Ala)	PDPR (E235A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211057	NM_017990.5(PDPR):c.1924C>G (p.Pro642Ala)	PDPR (P240A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211058	NM_017990.5(PDPR):c.1927A>G (p.Met643Val)	PDPR (M241V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361207	NM_017990.5(PDPR):c.1994G>A (p.Arg665Gln)	PDPR (R665Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305599	NM_017990.5(PDPR):c.2033T>C (p.Met678Thr)	PDPR (M276T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211059	NM_017990.5(PDPR):c.2078T>C (p.Val693Ala)	PDPR (V693A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211060	NM_017990.5(PDPR):c.2141G>A (p.Arg714Gln)	PDPR (R614Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1269744	NM_017990.5(PDPR):c.2236-6T>C	LOC400541, PDPR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3211061	NM_017990.5(PDPR):c.2254C>T (p.Arg752Cys)	LOC400541, PDPR (R350C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2360166	NM_017990.5(PDPR):c.2320G>A (p.Asp774Asn)	LOC400541, PDPR (D774N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646677	NM_017990.5(PDPR):c.2372G>A (p.Arg791Gln)	LOC400541, PDPR (R389Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3211062	NM_017990.5(PDPR):c.2401A>G (p.Ser801Gly)	LOC400541, PDPR (S801G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615322	NM_017990.5(PDPR):c.2423T>G (p.Leu808Arg)	LOC400541, PDPR (L406R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041794	NM_017990.5(PDPR):c.2428C>T (p.Arg810Cys)	LOC400541, PDPR (R408C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2350633	NM_017990.5(PDPR):c.2509C>T (p.Arg837Trp)	LOC400541, PDPR (R737W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593557	NM_017990.5(PDPR):c.2540A>G (p.Tyr847Cys)	LOC400541, PDPR (Y847C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349599	NM_017990.5(PDPR):c.2542C>A (p.Arg848Ser)	LOC400541, PDPR (R848S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3063458	GRCh37/hg19 16q22.1(chr16:70180112-70650383)x3	AARS1, CLEC18C +10 more	Copy number gain	not specified	GUncertain significance
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526515	GRCh37/hg19 16q22.1(chr16:70024576-70673886)	LOC400541, PDPR +10 more	Copy number gain	not specified	GUncertain significance
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 870558	GRCh37/hg19 16q22.1(chr16:70185757-70416579)x3	DDX19A, DDX19B +6 more	Copy number gain	Abnormal peripheral nervous system morphology	GUncertain significance
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance

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