ClinVar for Gene (Select 92737) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2651971	NM_139072.4(DNER):c.633G>A (p.Ala211=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 2599972	NM_139072.4(DNER):c.640C>T (p.Arg214Cys)	DNER (R214C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542143	NM_139072.4(DNER):c.1046A>C (p.Glu349Ala)	DNER (E349A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516246	NM_139072.4(DNER):c.1175A>G (p.Lys392Arg)	DNER (K392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515126	NM_139072.4(DNER):c.511G>A (p.Ala171Thr)	DNER (A171T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510644	NM_139072.4(DNER):c.1231C>G (p.Leu411Val)	DNER (L411V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508887	NM_139072.4(DNER):c.1574A>G (p.Asn525Ser)	DNER (N525S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494317	NM_139072.4(DNER):c.2125G>A (p.Ala709Thr)	DNER (A709T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481370	NM_139072.4(DNER):c.1945G>A (p.Ala649Thr)	DNER (A649T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468020	NM_139072.4(DNER):c.1084G>A (p.Ala362Thr)	DNER (A362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461080	NM_139072.4(DNER):c.986C>T (p.Pro329Leu)	DNER (P329L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454487	NM_139072.4(DNER):c.944A>C (p.Asn315Thr)	DNER (N315T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407613	NM_139072.4(DNER):c.1448G>A (p.Arg483His)	DNER (R483H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404366	NM_139072.4(DNER):c.402G>C (p.Gln134His)	DNER (Q134H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389489	NM_139072.4(DNER):c.1474C>T (p.Leu492Phe)	DNER (L492F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378643	NM_139072.4(DNER):c.2093G>A (p.Arg698Gln)	DNER (R698Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369389	NM_139072.4(DNER):c.613G>A (p.Ala205Thr)	DNER (A205T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367715	NM_139072.4(DNER):c.668A>G (p.Asn223Ser)	DNER (N223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356443	NM_139072.4(DNER):c.502C>T (p.Arg168Cys)	DNER (R168C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347186	NM_139072.4(DNER):c.1699T>C (p.Cys567Arg)	DNER, LOC108353815 (C567R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345730	NM_139072.4(DNER):c.452G>A (p.Arg151Gln)	DNER (R151Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330661	NM_139072.4(DNER):c.166G>C (p.Gly56Arg)	DNER (G56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299742	NM_139072.4(DNER):c.890G>A (p.Arg297His)	DNER (R297H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272050	NM_139072.4(DNER):c.1007G>T (p.Cys336Phe)	DNER (C336F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265062	NM_139072.4(DNER):c.637G>A (p.Gly213Ser)	DNER (G213S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264044	NM_139072.4(DNER):c.998C>T (p.Thr333Ile)	DNER (T333I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259519	NM_139072.4(DNER):c.355T>G (p.Tyr119Asp)	DNER (Y119D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223584	NM_139072.4(DNER):c.1345G>A (p.Gly449Arg)	DNER (G449R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208503	NM_139072.4(DNER):c.650C>T (p.Ser217Phe)	DNER (S217F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 790517	NM_139072.4(DNER):c.540G>A (p.Pro180=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775063	NM_139072.4(DNER):c.586-10dup	DNER	Duplication (intron variant)	not provided	GBenign
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 743004	NM_139072.4(DNER):c.1680C>T (p.Ser560=)	DNER, LOC108353815	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 734588	NM_139072.4(DNER):c.1302C>T (p.Cys434=)	DNER	Single nucleotide variant (synonymous 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 723034	NM_139072.4(DNER):c.1872C>T (p.Ser624=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716764	NM_139072.4(DNER):c.2094G>A (p.Arg698=)	DNER	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716097	NM_139072.4(DNER):c.425C>T (p.Thr142Ile)	DNER (T142I)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	ACKR3, ACSL3 +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
Select item 441824	GRCh37/hg19 2q36.3-37.1(chr2:230491213-231404389)x1	DNER, FBXO36 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
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 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088830, LOC132088831 +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 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	LOC122861320, LOC122889004 +347 more	Copy number loss	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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 88