DNPEP[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 473301	NC_000002.11:g.(?_220150706)_(220290732_?)dup	DES, DES-LCR +14 more	Duplication	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 3273254	NM_012100.4(DNPEP):c.1415T>C (p.Phe472Ser)	DNPEP (F458S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084828	NM_012100.4(DNPEP):c.1381G>A (p.Val461Ile)	DNPEP (V425I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084827	NM_012100.4(DNPEP):c.1313G>A (p.Arg438Gln)	DNPEP (R402Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084826	NM_012100.4(DNPEP):c.1301G>A (p.Arg434Gln)	DNPEP (R381Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084825	NM_012100.4(DNPEP):c.1286C>T (p.Pro429Leu)	DNPEP (P415L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494972	NM_012100.4(DNPEP):c.1169G>A (p.Arg390His)	DNPEP (R354H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297267	NM_012100.4(DNPEP):c.1161C>G (p.Ser387Arg)	DNPEP (S359R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084824	NM_012100.4(DNPEP):c.1120C>T (p.Arg374Trp)	DNPEP (R338W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278830	NM_012100.4(DNPEP):c.1081G>A (p.Val361Met)	DNPEP (V333M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251433	NM_012100.4(DNPEP):c.1022C>T (p.Thr341Ile)	DNPEP (T341I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273258	NM_012100.4(DNPEP):c.995G>T (p.Arg332Leu)	DNPEP (R318L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273256	NM_012100.4(DNPEP):c.961G>T (p.Ala321Ser)	DNPEP (A285S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371720	NM_012100.4(DNPEP):c.941G>T (p.Gly314Val)	DNPEP (G300V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775822	NM_012100.4(DNPEP):c.937-6C>T	DNPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2266446	NM_012100.4(DNPEP):c.931G>A (p.Glu311Lys)	DNPEP (E275K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463586	NM_012100.4(DNPEP):c.923A>G (p.Tyr308Cys)	DNPEP (Y280C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084839	NM_012100.4(DNPEP):c.907C>T (p.Arg303Cys)	DNPEP (R250C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265408	NM_012100.4(DNPEP):c.824A>G (p.Asn275Ser)	DNPEP (N222S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084837	NM_012100.4(DNPEP):c.793G>A (p.Asp265Asn)	DNPEP (D229N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526156	NM_012100.4(DNPEP):c.734T>C (p.Ile245Thr)	DNPEP (I245T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084835	NM_012100.4(DNPEP):c.661G>A (p.Ala221Thr)	DNPEP (A168T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218826	NM_012100.4(DNPEP):c.640C>T (p.Pro214Ser)	DNPEP (P161S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474399	NM_012100.4(DNPEP):c.610G>A (p.Ala204Thr)	DNPEP (A151T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531894	NM_012100.4(DNPEP):c.557A>G (p.Asn186Ser)	DNPEP (N194S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472464	NM_012100.4(DNPEP):c.548G>A (p.Arg183Gln)	DNPEP (R169Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2251434	NM_012100.4(DNPEP):c.539A>T (p.His180Leu)	DNPEP (H166L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775823	NM_012100.4(DNPEP):c.511A>G (p.Ile171Val)	DNPEP (I118V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3084834	NM_012100.4(DNPEP):c.506G>A (p.Arg169Gln)	DNPEP (R155Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396770	NM_012100.4(DNPEP):c.483G>C (p.Glu161Asp)	DNPEP (E108D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485525	NM_012100.4(DNPEP):c.463C>T (p.Pro155Ser)	DNPEP (P141S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356013	NM_012100.4(DNPEP):c.448G>A (p.Val150Ile)	DNPEP (V150I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541388	NM_012100.4(DNPEP):c.446G>A (p.Arg149His)	DNPEP (R96H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273255	NM_012100.4(DNPEP):c.445C>T (p.Arg149Cys)	DNPEP (R149C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084832	NM_012100.4(DNPEP):c.434C>T (p.Thr145Ile)	DNPEP (T131I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243087	NM_012100.4(DNPEP):c.401G>T (p.Gly134Val)	DNPEP (G142V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345199	NM_012100.4(DNPEP):c.379G>A (p.Gly127Ser)	DNPEP (G135S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317346	NM_012100.4(DNPEP):c.341G>T (p.Arg114Leu)	DNPEP (R61L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234587	NM_012100.4(DNPEP):c.245C>T (p.Thr82Ile)	DNPEP (T29I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084831	NM_012100.4(DNPEP):c.225C>A (p.Phe75Leu)	DNPEP (F22L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084830	NM_012100.4(DNPEP):c.224T>C (p.Phe75Ser)	DNPEP (F61S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373980	NM_012100.4(DNPEP):c.161A>G (p.Gln54Arg)	DNPEP (Q62R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084829	NM_012100.4(DNPEP):c.151C>A (p.Arg51Ser)	DNPEP (R37S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470688	NM_012100.4(DNPEP):c.103G>A (p.Val35Met)	DNPEP (V21M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084838	NM_012100.4(DNPEP):c.80C>T (p.Ala27Val)	DNPEP (A13V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084836	NM_012100.4(DNPEP):c.73C>A (p.Gln25Lys)	DNPEP (Q11K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242885	NM_012100.4(DNPEP):c.35A>G (p.Gln12Arg)	DNPEP, LOC129935652 (Q12R)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685877	GRCh37/hg19 2q35(chr2:220169575-220625221)x3	ASIC4, CHPF +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	RNF25, SLC11A1 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	CNPPD1, DNAJB2 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	PTPRN, STK11IP +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 80