"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DNASE1L - ClinVar

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

Search results

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769188	NM_001303620.2(DNASE1L1):c.201G>C (p.Pro67=)	DNASE1L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2065777	NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)	DNASE1L1, LOC130068869 +1 more (M1V)	Single nucleotide variant (missense variant +3 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2030006	NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)	DNASE1L1, LOC130068869 +1 more (M1I)	Single nucleotide variant (missense variant +3 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 42253	NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)	DNASE1L1, LOC130068869 +1 more (V5L)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1922236	NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)	DNASE1L1, LOC130068869 +1 more (K6N)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2708386	NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 840746	NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)	DNASE1L1, LOC130068869 +1 more (F9L)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 2963673	NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)	DNASE1L1, LOC130068869 +1 more (P10S)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 691831	NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)	DNASE1L1, LOC130068869 +1 more (P10R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3000153	NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1799627	NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)	DNASE1L1, LOC130068869 +1 more (P13S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2762037	NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2143046	NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2845333	NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (synonymous variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 956076	NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)	DNASE1L1, LOC130068869 +1 more (T16S)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 42260	NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +2 more	GLikely benign
Select item 656713	NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)	TAFAZZIN, DNASE1L1 +1 more (W17C)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2726425	NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)	DNASE1L1, LOC130068869 +1 more (T18I)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1118641	NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)	TAFAZZIN, DNASE1L1 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2030701	NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 462144	NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +2 more	GLikely benign
Select item 697651	NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GLikely benign
Select item 2769826	NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)	DNASE1L1, LOC130068869 +1 more (G29R)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2 +1 more	GUncertain significance
Select item 848014	NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)	DNASE1L1, LOC130068869 +1 more (T30I)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1800452	NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2036724	NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)	TAFAZZIN, DNASE1L1 +1 more (Y31C)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 1938466	NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)	DNASE1L1, LOC130068869 +1 more (F34I)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2830373	NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1073013	NM_000116.5(TAFAZZIN):c.109+5G>A	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GPathogenic/Likely pathogenic
Select item 1112361	NM_000116.5(TAFAZZIN):c.109+8G>A	DNASE1L1, LOC130068869 +1 more (W39*)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2105462	NM_000116.5(TAFAZZIN):c.109+15del	LOC130068869, TAFAZZIN +1 more (A42fs)	Deletion (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2188697	NM_000116.5(TAFAZZIN):c.109+15G>A	DNASE1L1, LOC130068869 +1 more (A42T)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2739109	NM_000116.5(TAFAZZIN):c.109+20G>A	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2854089	NM_000116.5(TAFAZZIN):c.110-20G>T	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2975863	NM_000116.5(TAFAZZIN):c.110-19A>C	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 2824806	NM_000116.5(TAFAZZIN):c.110-18C>T	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 36794	NM_000116.5(TAFAZZIN):c.110-17=	DNASE1L1, TAFAZZIN	Single nucleotide variant (no sequence alteration +1 more)	3-Methylglutaconic aciduria type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2162446	NM_000116.5(TAFAZZIN):c.110-15C>G	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 1307995	NM_000116.5(TAFAZZIN):c.110-6C>G	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GConflicting classifications of pathogenicity
Select item 381564	NM_000116.5(TAFAZZIN):c.110-6C>T	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2 +2 more	GConflicting classifications of pathogenicity
Select item 11109	NM_000116.5(TAFAZZIN):c.110-2A>G	TAFAZZIN, DNASE1L1	Single nucleotide variant (5 prime UTR variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 1953002	NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)	DNASE1L1, TAFAZZIN (Y56C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2031230	NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)	DNASE1L1, TAFAZZIN (M39I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 412664	NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)	DNASE1L1, TAFAZZIN	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely benign
Select item 3244398	NC_000023.10:g.(?_153577217)_(153649343_?)dup	DNASE1L1, EMD +3 more	Duplication	Oto-palato-digital syndrome, type II +3 more	GUncertain significance
Select item 3244019	NC_000023.10:g.(?_153640181)_(153642547_?)dup	DNASE1L1, TAFAZZIN	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3244008	NC_000023.10:g.(?_153592370)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	ABCD1, ARHGAP4 +40 more	Deletion	Creatine transporter deficiency +6 more	GPathogenic
Select item 2425259	NC_000023.10:g.(?_153195397)_(153642547_?)dup	EMD, DNASE1L1 +14 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic
Select item 2424174	NC_000023.10:g.(?_153585782)_(153775961_?)dup	ATP6AP1, DNASE1L1 +13 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2424169	NC_000023.10:g.(?_153128118)_(153664237_?)dup	ARHGAP4, ATP6AP1 +18 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	CMC4, CTAG1A +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422371	NC_000023.10:g.(?_153357622)_(153664237_?)dup	ATP6AP1, DNASE1L1 +10 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 2422368	NC_000023.10:g.(?_153640181)_(153775961_?)dup	ATP6AP1, DNASE1L1 +10 more	Duplication	not provided	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	CTAG1A, CTAG1B +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	SLC10A3, TKTL1 +73 more	Deletion	Spastic paraplegia +8 more	GPathogenic
Select item 1500301	NC_000023.10:g.(?_153577211)_(153640295_?)dup	DNASE1L1, EMD +3 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 1070848	NC_000023.10:g.(?_153639844)_(153642537_?)del	TAFAZZIN, DNASE1L1	Deletion	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 1070847	NC_000023.10:g.(?_153640161)_(153649363_?)del	DNASE1L1, TAFAZZIN	Deletion	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 1014944	NC_000023.10:g.(?_153579929)_(153649363_?)dup	DNASE1L1, EMD +3 more	Duplication	Heterotopia, periventricular, X-linked dominant +4 more	GUncertain significance
Select item 831241	NC_000023.10:g.(?_152990712)_(153650075_?)dup	ARHGAP4, ABCD1 +23 more	Duplication	X-linked Emery-Dreifuss muscular dystrophy	GUncertain significance
Select item 831079	NC_000023.10:g.(?_153577207)_(153642537_?)dup	DNASE1L1, EMD +3 more	Duplication	Frontometaphyseal dysplasia +3 more	GUncertain significance
Select item 665050	NC_000023.10:g.(?_152990712)_(153650075_?)del	IDH3G, IRAK1 +23 more	Deletion	X-linked Emery-Dreifuss muscular dystrophy	GPathogenic
Select item 659583	NC_000023.10:g.(?_153577207)_(153650075_?)dup	DNASE1L1, EMD +3 more	Duplication	Heterotopia, periventricular, X-linked dominant +3 more	GUncertain significance
Select item 658992	NC_000023.10:g.(?_152954020)_(154096327_?)del	ATP6AP1, AVPR2 +43 more	Deletion	Adrenoleukodystrophy	GPathogenic
Select item 652973	NC_000023.10:g.(?_153640161)_(153649363_?)dup	DNASE1L1, TAFAZZIN	Duplication	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 536592	NC_000023.10:g.(?_153295726)_(153786885_?)dup	ATP6AP1, DNASE1L1 +19 more	Duplication	Severe neonatal-onset encephalopathy with microcephaly	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67