DNER[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 59174	GRCh38/hg38 2q36.3(chr2:229308268-229952405)x3	DNER, FBXO36 +7 more	Copy number gain	See cases	GPathogenic
Select item 2494317	NM_139072.4(DNER):c.2125G>A (p.Ala709Thr)	DNER (A709T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716764	NM_139072.4(DNER):c.2094G>A (p.Arg698=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2378643	NM_139072.4(DNER):c.2093G>A (p.Arg698Gln)	DNER (R698Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481370	NM_139072.4(DNER):c.1945G>A (p.Ala649Thr)	DNER (A649T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084655	NM_139072.4(DNER):c.1891C>T (p.Leu631Phe)	DNER (L631F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761259	NM_139072.4(DNER):c.1879A>G (p.Met627Val)	DNER (M627V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 723034	NM_139072.4(DNER):c.1872C>T (p.Ser624=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741973	NM_139072.4(DNER):c.1863A>G (p.Gln621=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273158	NM_139072.4(DNER):c.1826A>G (p.His609Arg)	DNER (H609R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347186	NM_139072.4(DNER):c.1699T>C (p.Cys567Arg)	DNER, LOC108353815 (C567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743004	NM_139072.4(DNER):c.1680C>T (p.Ser560=)	DNER, LOC108353815	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2508887	NM_139072.4(DNER):c.1574A>G (p.Asn525Ser)	DNER (N525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389489	NM_139072.4(DNER):c.1474C>T (p.Leu492Phe)	DNER (L492F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407613	NM_139072.4(DNER):c.1448G>A (p.Arg483His)	DNER (R483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651970	NM_139072.4(DNER):c.1443G>A (p.Thr481=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619802	NM_139072.4(DNER):c.1432G>T (p.Ala478Ser)	DNER (A478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223584	NM_139072.4(DNER):c.1345G>A (p.Gly449Arg)	DNER (G449R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734588	NM_139072.4(DNER):c.1302C>T (p.Cys434=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3084653	NM_139072.4(DNER):c.1294G>A (p.Asp432Asn)	DNER (D432N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510644	NM_139072.4(DNER):c.1231C>G (p.Leu411Val)	DNER (L411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084652	NM_139072.4(DNER):c.1180G>A (p.Asp394Asn)	DNER (D394N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516246	NM_139072.4(DNER):c.1175A>G (p.Lys392Arg)	DNER (K392R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273156	NM_139072.4(DNER):c.1111C>A (p.Gln371Lys)	DNER (Q371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084651	NM_139072.4(DNER):c.1088G>A (p.Ser363Asn)	DNER (S363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084650	NM_139072.4(DNER):c.1085C>T (p.Ala362Val)	DNER (A362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468020	NM_139072.4(DNER):c.1084G>A (p.Ala362Thr)	DNER (A362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084649	NM_139072.4(DNER):c.1061A>C (p.Gln354Pro)	DNER (Q354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542143	NM_139072.4(DNER):c.1046A>C (p.Glu349Ala)	DNER (E349A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272050	NM_139072.4(DNER):c.1007G>T (p.Cys336Phe)	DNER (C336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264044	NM_139072.4(DNER):c.998C>T (p.Thr333Ile)	DNER (T333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461080	NM_139072.4(DNER):c.986C>T (p.Pro329Leu)	DNER (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454487	NM_139072.4(DNER):c.944A>C (p.Asn315Thr)	DNER (N315T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299742	NM_139072.4(DNER):c.890G>A (p.Arg297His)	DNER (R297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367715	NM_139072.4(DNER):c.668A>G (p.Asn223Ser)	DNER (N223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208503	NM_139072.4(DNER):c.650C>T (p.Ser217Phe)	DNER (S217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599972	NM_139072.4(DNER):c.640C>T (p.Arg214Cys)	DNER (R214C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265062	NM_139072.4(DNER):c.637G>A (p.Gly213Ser)	DNER (G213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273160	NM_139072.4(DNER):c.635G>A (p.Gly212Asp)	DNER (G212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651971	NM_139072.4(DNER):c.633G>A (p.Ala211=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369389	NM_139072.4(DNER):c.613G>A (p.Ala205Thr)	DNER (A205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775063	NM_139072.4(DNER):c.586-10dup	DNER	Duplication (intron variant)	not provided	GBenign
Select item 727651	NM_139072.4(DNER):c.586-10C>T	DNER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790517	NM_139072.4(DNER):c.540G>A (p.Pro180=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2515126	NM_139072.4(DNER):c.511G>A (p.Ala171Thr)	DNER (A171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356443	NM_139072.4(DNER):c.502C>T (p.Arg168Cys)	DNER (R168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084658	NM_139072.4(DNER):c.458T>G (p.Leu153Arg)	DNER (L153R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345730	NM_139072.4(DNER):c.452G>A (p.Arg151Gln)	DNER (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273157	NM_139072.4(DNER):c.440C>T (p.Ser147Phe)	DNER (S147F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716097	NM_139072.4(DNER):c.425C>T (p.Thr142Ile)	DNER (T142I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2404366	NM_139072.4(DNER):c.402G>C (p.Gln134His)	DNER (Q134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084657	NM_139072.4(DNER):c.372T>G (p.Asn124Lys)	DNER (N124K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259519	NM_139072.4(DNER):c.355T>G (p.Tyr119Asp)	DNER (Y119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152951	GRCh38/hg38 2q36.3(chr2:229648729-230055624)x1	DNER, FBXO36 +7 more	Copy number loss	See cases	GUncertain significance
Select item 152511	GRCh38/hg38 2q36.3(chr2:229684757-229717735)x1	DNER	Copy number loss	See cases	GBenign
Select item 2330661	NM_139072.4(DNER):c.166G>C (p.Gly56Arg)	DNER (G56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084659	NM_139072.4(DNER):c.88G>C (p.Gly30Arg)	DNER (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084656	NM_139072.4(DNER):c.23C>T (p.Ala8Val)	DNER (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084661	NM_139072.4(DNER):c.8C>T (p.Pro3Leu)	DNER (P3L)	Single nucleotide variant (missense variant)	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 2685882	GRCh37/hg19 2q36.3(chr2:230421155-230632643)x3	DNER, TRIP12	Copy number gain	not provided	GUncertain significance
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1808326	GRCh37/hg19 2q36.3(chr2:230201106-230431051)x3	DNER	Copy number gain	not provided	GUncertain significance
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 1526961	GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)	CAB39, DNER +11 more	Copy number loss	not specified	GPathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	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 816579	GRCh37/hg19 2q36.3(chr2:230491430-230775587)x3	DNER, TRIP12	Copy number gain	not provided	GUncertain significance
Select item 816578	GRCh37/hg19 2q36.3(chr2:230336832-230391275)x1	DNER	Copy number loss	not provided	GUncertain significance
Select item 687453	GRCh37/hg19 2q36.3(chr2:230573487-230764226)x3	DNER, TRIP12	Copy number gain	not provided	GUncertain significance
Select item 686671	GRCh37/hg19 2q36.3(chr2:230487853-230709082)x3	DNER, TRIP12	Copy number gain	not provided	GUncertain significance
Select item 686555	GRCh37/hg19 2q36.3(chr2:230491545-230657293)x3	DNER, TRIP12	Copy number gain	not provided	GUncertain significance
Select item 686400	GRCh37/hg19 2q36.3(chr2:230295976-230361720)x3	DNER	Copy number gain	not provided	GUncertain significance
Select item 686199	GRCh37/hg19 2q36.3(chr2:230566834-230689317)x3	DNER, TRIP12	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 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562640	GRCh37/hg19 2q36.3(chr2:229148478-230581421)x1	PID1, DNER	Copy number loss	not provided	GUncertain significance
Select item 562539	GRCh37/hg19 2q36.3(chr2:230421154-230622144)x3	DNER	Copy number gain	not provided	GUncertain significance
Select item 547119	GRCh37/hg19 2q36.3(chr2:230489419-230906744)x3	FBXO36, DNER +2 more	Copy number gain	not provided	GUncertain significance
Select item 446435	GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1	C2orf72, CAB39 +13 more	Copy number loss	not specified	GUncertain significance
Select item 443894	GRCh37/hg19 2q36.3(chr2:229365794-230718969)x3	DNER, PID1 +1 more	Copy number gain	See cases	GUncertain significance
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 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
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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