PDP2[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
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 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	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 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	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 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 2514476	NM_020786.4(PDP2):c.37A>G (p.Thr13Ala)	PDP2 (T13A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345364	NM_020786.4(PDP2):c.73C>T (p.Arg25Cys)	PDP2 (R25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211039	NM_020786.4(PDP2):c.91G>A (p.Val31Ile)	PDP2 (V31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400518	NM_020786.4(PDP2):c.131G>A (p.Arg44Gln)	PDP2 (R44Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2309663	NM_020786.4(PDP2):c.139C>A (p.Pro47Thr)	PDP2 (P47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517978	NM_020786.4(PDP2):c.173C>T (p.Thr58Ile)	PDP2 (T58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305593	NM_020786.4(PDP2):c.313T>C (p.Ser105Pro)	PDP2 (S105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211033	NM_020786.4(PDP2):c.322C>T (p.Arg108Trp)	PDP2 (R108W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289322	NM_020786.4(PDP2):c.323G>A (p.Arg108Gln)	PDP2 (R108Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319053	NM_020786.4(PDP2):c.368G>A (p.Arg123Gln)	PDP2 (R123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356362	NM_020786.4(PDP2):c.371G>A (p.Arg124Gln)	PDP2 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211034	NM_020786.4(PDP2):c.413G>A (p.Gly138Asp)	PDP2 (G138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619545	NM_020786.4(PDP2):c.460G>A (p.Glu154Lys)	PDP2 (E154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305588	NM_020786.4(PDP2):c.481G>A (p.Ala161Thr)	PDP2 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389050	NM_020786.4(PDP2):c.506C>T (p.Thr169Ile)	PDP2 (T169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305589	NM_020786.4(PDP2):c.526G>A (p.Ala176Thr)	PDP2 (A176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372646	NM_020786.4(PDP2):c.536G>A (p.Ser179Asn)	PDP2 (S179N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211036	NM_020786.4(PDP2):c.545C>T (p.Pro182Leu)	PDP2 (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495667	NM_020786.4(PDP2):c.571A>C (p.Lys191Gln)	PDP2 (K191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607555	NM_020786.4(PDP2):c.629G>T (p.Arg210Leu)	PDP2 (R210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207313	NM_020786.4(PDP2):c.629G>C (p.Arg210Pro)	PDP2 (R210P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335606	NM_020786.4(PDP2):c.664G>A (p.Glu222Lys)	PDP2 (E222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456588	NM_020786.4(PDP2):c.680T>C (p.Ile227Thr)	PDP2 (I227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211037	NM_020786.4(PDP2):c.841G>A (p.Val281Met)	PDP2 (V281M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211038	NM_020786.4(PDP2):c.844G>T (p.Ala282Ser)	PDP2 (A282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527755	NM_020786.4(PDP2):c.854G>A (p.Gly285Asp)	PDP2 (G285D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305594	NM_020786.4(PDP2):c.883G>A (p.Glu295Lys)	PDP2 (E295K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161736	NM_020786.4(PDP2):c.890A>G (p.Asn297Ser)	PDP2 (N297S)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2527756	NM_020786.4(PDP2):c.931G>T (p.Ala311Ser)	PDP2 (A311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211040	NM_020786.4(PDP2):c.955C>T (p.Arg319Trp)	PDP2 (R319W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211041	NM_020786.4(PDP2):c.956G>A (p.Arg319Gln)	PDP2 (R319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211042	NM_020786.4(PDP2):c.994A>G (p.Ile332Val)	PDP2 (I332V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591366	NM_020786.4(PDP2):c.1000A>G (p.Met334Val)	PDP2 (M334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305586	NM_020786.4(PDP2):c.1021G>A (p.Val341Ile)	PDP2 (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305587	NM_020786.4(PDP2):c.1081C>T (p.Arg361Cys)	PDP2 (R361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206095	NM_020786.4(PDP2):c.1138C>G (p.Pro380Ala)	PDP2 (P380A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248406	NM_020786.4(PDP2):c.1142C>T (p.Pro381Leu)	PDP2 (P381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380740	NM_020786.4(PDP2):c.1154C>A (p.Thr385Asn)	PDP2 (T385N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303354	NM_020786.4(PDP2):c.1299G>T (p.Glu433Asp)	PDP2 (E433D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305591	NM_020786.4(PDP2):c.1340A>C (p.Asn447Thr)	PDP2 (N447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518804	NM_020786.4(PDP2):c.1472G>A (p.Arg491Gln)	PDP2 (R491Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211031	NM_020786.4(PDP2):c.1478C>T (p.Ala493Val)	PDP2 (A493V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513860	NM_020786.4(PDP2):c.1496C>G (p.Pro499Arg)	PDP2 (P499R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305590	NM_020786.4(PDP2):c.1529T>A (p.Ile510Asn)	PDP2 (I510N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211032	NM_020786.4(PDP2):c.1560A>C (p.Glu520Asp)	PDP2 (E520D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 688030	GRCh37/hg19 16q22.1(chr16:66797153-67109495)x3	CA7, CBFB +9 more	Copy number gain	not provided	GUncertain significance
Select item 685973	GRCh37/hg19 16q22.1(chr16:66876199-67150370)x3	PDP2, PHAF1 +8 more	Copy number gain	not provided	GUncertain significance
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
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
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	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 80