DTNB[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	ABHD1, ADCY3 +321 more	Copy number loss	See cases	GPathogenic
Select item 147963	GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1	LOC129933291, LOC129933292 +142 more	Copy number loss	See cases	GUncertain significance
Select item 154924	GRCh38/hg38 2p23.3(chr2:25113266-25618499)x3	DNMT3A, DTNB +56 more	Copy number gain	See cases	GUncertain significance
Select item 2539660	NM_021907.5(DTNB):c.1880G>A (p.Gly627Asp)	DTNB (G416D +22 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327675	NM_021907.5(DTNB):c.1837G>T (p.Ala613Ser)	DTNB (A436S +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2307503	NM_021907.5(DTNB):c.1831G>A (p.Glu611Lys)	DTNB (E544K +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2389886	NM_021907.5(DTNB):c.1756A>C (p.Asn586His)	DTNB (N409H +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2491816	NM_021907.5(DTNB):c.1739C>T (p.Thr580Met)	DTNB (T268M +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2365325	NM_021907.5(DTNB):c.1724C>T (p.Ala575Val)	DTNB (A263V +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2607013	NM_021907.5(DTNB):c.1714G>T (p.Val572Leu)	DTNB (V361L +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 734090	NM_021907.5(DTNB):c.1704C>T (p.Val568=)	DTNB	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2279122	NM_021907.5(DTNB):c.1616G>C (p.Gly539Ala)	DTNB (G502A +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292435	NM_021907.5(DTNB):c.1292A>G (p.Asp431Gly)	DTNB (D126G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2650731	NM_021907.5(DTNB):c.1287C>T (p.Asn429=)	DTNB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2328001	NM_021907.5(DTNB):c.1262G>A (p.Arg421His)	DTNB (R217H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481419	NM_021907.5(DTNB):c.1207C>T (p.Arg403Cys)	DTNB (R403C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2562475	NM_021907.5(DTNB):c.1168C>T (p.Arg390Cys)	DTNB (R186C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455021	NM_021907.5(DTNB):c.1117G>A (p.Asp373Asn)	DTNB (D226N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291469	NM_021907.5(DTNB):c.967C>G (p.Gln323Glu)	DTNB (Q119E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2344955	NM_021907.5(DTNB):c.950A>G (p.His317Arg)	DTNB (H170R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2315053	NM_021907.5(DTNB):c.841A>G (p.Ser281Gly)	DTNB (S134G +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2594681	NM_021907.5(DTNB):c.829G>A (p.Gly277Ser)	DTNB (G277S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2224437	NM_021907.5(DTNB):c.476A>G (p.Asn159Ser)	DTNB (N102S +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2392570	NM_021907.5(DTNB):c.404T>C (p.Met135Thr)	DTNB (M135T +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2593202	NM_021907.5(DTNB):c.400G>A (p.Ala134Thr)	DTNB (A77T +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2350232	NM_021907.5(DTNB):c.371G>A (p.Arg124Gln)	DTNB (R67Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2604447	NM_021907.5(DTNB):c.334C>G (p.Leu112Val)	DTNB (L112V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2526905	NM_021907.5(DTNB):c.331C>T (p.Leu111Phe)	DTNB (L111F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2461020	NM_021907.5(DTNB):c.295A>G (p.Thr99Ala)	DTNB (T42A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608658	NM_021907.5(DTNB):c.25C>T (p.Arg9Trp)	DTNB (R9W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2685851	GRCh37/hg19 2p23.3(chr2:25878353-26157646)x3	ASXL2, DTNB +1 more	Copy number gain	not provided	GUncertain significance
Select item 2498866	GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1	ADCY3, EFR3B +10 more	Copy number loss	not provided	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ZNF513, SLC5A6 +65 more	Duplication	not provided	GUncertain significance
Select item 2427540	NC_000002.11:g.(?_24443763)_(26029226_?)del	ADCY3, ASXL2 +9 more	Deletion	Tatton-Brown-Rahman overgrowth syndrome	GPathogenic
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	SLC4A1AP, OTOF +72 more	Duplication	not provided	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	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 1701798	GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1	RAB10, EFR3B +13 more	Copy number loss	Tatton-Brown-Rahman overgrowth syndrome +1 more	Gnot provided
Select item 1686655	GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1	FAM228A, FAM228B +19 more	Copy number loss	2p24.1p23.3 microdeletion syndrome	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814224	GRCh37/hg19 2p23.3(chr2:24710112-25987357)x1	ASXL2, ADCY3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 685872	GRCh37/hg19 2p23.3(chr2:25672398-25860968)x3	DTNB	Copy number gain	not provided	GUncertain significance
Select item 562654	GRCh37/hg19 2p23.3(chr2:24315204-26384655)x3	DNMT3A, ADCY3 +14 more	Copy number gain	not provided	GUncertain significance
Select item 559502	GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3	CENPO, PTRHD1 +7 more	Copy number gain	Fetal growth restriction +4 more	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 441048	GRCh37/hg19 2p23.3(chr2:24235780-25700427)x1	CENPO, ADCY3 +16 more	Copy number loss	not provided	Gnot provided

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Items: 55