PDPR[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +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	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +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	AARS1, ADAMTS18 +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 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 2518711	NM_017990.5(PDPR):c.250T>C (p.Phe84Leu)	PDPR (F84L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2293260	NM_017990.5(PDPR):c.881G>A (p.Arg294Gln)	PDPR (R294Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2570572	NM_017990.5(PDPR):c.1234G>A (p.Val412Ile)	PDPR (V10I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519216	NM_017990.5(PDPR):c.1255C>T (p.Arg419Cys)	PDPR (R319C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395602	NM_017990.5(PDPR):c.1274G>A (p.Ser425Asn)	PDPR (S425N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559932	NM_017990.5(PDPR):c.1297C>T (p.Arg433Trp)	PDPR (R31W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374212	NM_017990.5(PDPR):c.1300G>A (p.Val434Ile)	PDPR (V434I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462333	NM_017990.5(PDPR):c.1304T>C (p.Met435Thr)	PDPR (M335T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 183316	NM_017990.5(PDPR):c.1360G>T (p.Gly454Cys)	PDPR (G454C +2 more)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases	GUncertain significance
Select item 2403333	NM_017990.5(PDPR):c.1384C>G (p.Leu462Val)	PDPR (L362V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366709	NM_017990.5(PDPR):c.1402G>T (p.Ala468Ser)	PDPR (A368S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287242	NM_017990.5(PDPR):c.1550G>A (p.Cys517Tyr)	PDPR (C115Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470671	NM_017990.5(PDPR):c.1639T>C (p.Tyr547His)	PDPR (Y447H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323875	NM_017990.5(PDPR):c.1690G>A (p.Gly564Ser)	PDPR (G564S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508821	NM_017990.5(PDPR):c.1706G>A (p.Gly569Asp)	PDPR (G167D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646676	NM_017990.5(PDPR):c.1867+3dup	PDPR	Duplication (intron variant)	not provided	GLikely benign
Select item 2361207	NM_017990.5(PDPR):c.1994G>A (p.Arg665Gln)	PDPR (R665Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2360166	NM_017990.5(PDPR):c.2320G>A (p.Asp774Asn)	LOC400541, PDPR (D774N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2615322	NM_017990.5(PDPR):c.2423T>G (p.Leu808Arg)	LOC400541, PDPR (L406R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041794	NM_017990.5(PDPR):c.2428C>T (p.Arg810Cys)	LOC400541, PDPR (R408C +2 more)	Single nucleotide variant (missense variant)	PDPR-related condition	GLikely benign
Select item 2350633	NM_017990.5(PDPR):c.2509C>T (p.Arg837Trp)	LOC400541, PDPR (R737W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593557	NM_017990.5(PDPR):c.2540A>G (p.Tyr847Cys)	PDPR, LOC400541 (Y847C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349599	NM_017990.5(PDPR):c.2542C>A (p.Arg848Ser)	LOC400541, PDPR (R848S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	AARS1, ACD +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	SYCE1L, TAF1C +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	AARS1, CLEC18C +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	AARS1, ABCC11 +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	ADCY7, ADGRG1 +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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ADGRG3 +292 more	Copy number gain	See cases	GPathogenic
Select item 442011	GRCh37/hg19 16q22.1(chr16:69385913-70336760)x1	AARS1, CLEC18A +12 more	Copy number loss	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 253974	GRCh37/hg19 16q22.1(chr16:69986596-70316676)x3	LOC400541, CLEC18A +4 more	Copy number gain	See cases	GUncertain significance
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 83