"GeneDx"[submitter] AND "ACO2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301231	NC_000022.11:g.41468643T>C	ACO2, PHF5A (H4R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 677692	NM_001098.2(ACO2):c.-118G>C	ACO2	Single nucleotide variant	not provided	GLikely benign
Select item 1019555	NM_001098.3(ACO2):c.26C>T (p.Thr9Ile)	ACO2 (T9I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 430056	NM_001098.3(ACO2):c.34C>T (p.Gln12Ter)	ACO2 (Q12*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1252576	NM_001098.3(ACO2):c.36+148G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273288	NM_001098.3(ACO2):c.37-321G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257431	NM_001098.3(ACO2):c.72A>G (p.Ser24=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 257432	NM_001098.3(ACO2):c.84A>G (p.Gln28=)	ACO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 426152	NM_001098.3(ACO2):c.98C>T (p.Ala33Val)	ACO2 (A33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377424	NM_001098.3(ACO2):c.120C>T (p.Asn40=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1216884	NM_001098.3(ACO2):c.174-323C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188855	NM_001098.3(ACO2):c.174-52G>T	ACO2	Single nucleotide variant (intron variant)	Optic atrophy 9 +2 more	GBenign
Select item 1810090	NM_001098.3(ACO2):c.185C>T (p.Pro62Leu)	ACO2 (P62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 128256	NM_001098.3(ACO2):c.192A>C (p.Thr64=)	ACO2	Single nucleotide variant (synonymous variant)	Infantile cerebellar-retinal degeneration +3 more	GBenign
Select item 189310	NM_001098.3(ACO2):c.220C>G (p.Leu74Val)	ACO2 (L74V)	Single nucleotide variant (missense variant)	Optic atrophy 9 +3 more	GConflicting classifications of pathogenicity
Select item 377425	NM_001098.3(ACO2):c.231C>T (p.Pro77=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 2662233	NM_001098.3(ACO2):c.266TGCGGC[3] (p.Arg92_Pro93insLeuArg)	ACO2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 937469	NM_001098.3(ACO2):c.269G>A (p.Arg90Gln)	ACO2 (R90Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509931	NM_001098.3(ACO2):c.282C>T (p.Asp94=)	ACO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 734669	NM_001098.3(ACO2):c.339C>T (p.Ser113=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214015	NM_001098.3(ACO2):c.425G>A (p.Arg142Gln)	ACO2 (R142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377426	NM_001098.3(ACO2):c.432+19T>C	ACO2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 424560	NM_001098.3(ACO2):c.433-2_433-1delinsTC	ACO2	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 136262	NM_001098.3(ACO2):c.486C>T (p.Gly162=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 214016	NM_001098.3(ACO2):c.487G>T (p.Val163Leu)	ACO2 (V163L)	Single nucleotide variant (missense variant)	ACO2-related disorder +1 more	GUncertain significance
Select item 1482853	NM_001098.3(ACO2):c.521A>G (p.His174Arg)	ACO2 (H174R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513236	NM_001098.3(ACO2):c.526-15T>G	ACO2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1151398	NM_001098.3(ACO2):c.546G>A (p.Ala182=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377427	NM_001098.3(ACO2):c.573T>C (p.Thr191=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3373627	NM_001098.3(ACO2):c.605G>C (p.Gly202Ala)	ACO2 (G202A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517903	NM_001098.3(ACO2):c.633C>T (p.Ala211=)	ACO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 128257	NM_001098.3(ACO2):c.670C>T (p.Leu224=)	ACO2	Single nucleotide variant (synonymous variant)	Infantile cerebellar-retinal degeneration +3 more	GBenign
Select item 214017	NM_001098.3(ACO2):c.684+1G>T	ACO2	Single nucleotide variant (splice donor variant)	ACO2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1194114	NM_001098.3(ACO2):c.684+82A>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382409	NM_001098.3(ACO2):c.685-16G>A	ACO2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385402	NM_001098.3(ACO2):c.714C>T (p.Leu238=)	ACO2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 235453	NM_001098.3(ACO2):c.718G>A (p.Gly240Ser)	ACO2 (G240S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 424533	NM_001098.3(ACO2):c.719G>A (p.Gly240Asp)	ACO2 (G240D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214018	NM_001098.3(ACO2):c.719G>C (p.Gly240Ala)	ACO2 (G240A)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration +4 more	GUncertain significance
Select item 1070844	NM_001098.3(ACO2):c.822dup (p.Ile275fs)	ACO2 (I275fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1188888	NM_001098.3(ACO2):c.836-118C>T	ACO2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209473	NM_001098.3(ACO2):c.836-58G>C	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188889	NM_001098.3(ACO2):c.836-54T>C	ACO2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 391241	NM_001098.3(ACO2):c.836-14C>T	ACO2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1442112	NM_001098.3(ACO2):c.890T>A (p.Phe297Tyr)	ACO2 (F297Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 678096	NM_001098.3(ACO2):c.940+209A>G	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674096	NM_001098.3(ACO2):c.941-51A>C	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187332	NM_001098.3(ACO2):c.941-32C>A	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214014	NM_001098.3(ACO2):c.951T>A (p.Asn317Lys)	ACO2 (N317K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559327	NM_001098.3(ACO2):c.987C>T (p.Asp329=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 520988	NM_001098.3(ACO2):c.988C>T (p.Pro330Ser)	ACO2 (P330S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1329846	NM_001098.3(ACO2):c.1003G>A (p.Asp335Asn)	ACO2 (D335N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712794	NM_001098.3(ACO2):c.1020T>A (p.Ile340=)	ACO2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 388351	NM_001098.3(ACO2):c.1032+17C>G	ACO2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 136263	NM_001098.3(ACO2):c.1032+17C>T	ACO2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1229068	NM_001098.3(ACO2):c.1032+216dup	ACO2	Duplication (intron variant)	not provided	GBenign
Select item 1180003	NM_001098.3(ACO2):c.1032+216del	ACO2	Deletion (intron variant)	not provided	GBenign
Select item 683113	NM_001098.3(ACO2):c.1032+284T>G	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678097	NM_001098.3(ACO2):c.1033-174C>G	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386913	NM_001098.3(ACO2):c.1033-20T>C	ACO2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 382468	NM_001098.3(ACO2):c.1033-9T>G	ACO2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 507259	NM_001098.3(ACO2):c.1038G>A (p.Lys346=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9 +2 more	GLikely benign
Select item 1061997	NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter)	ACO2 (R378*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1189497	NM_001098.3(ACO2):c.1138+55C>A	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198513	NM_001098.3(ACO2):c.1139-281C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672851	NM_001098.3(ACO2):c.1139-222A>G	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271095	NM_001098.3(ACO2):c.1139-179del	ACO2	Deletion (intron variant)	not provided	GBenign
Select item 1309045	NM_001098.3(ACO2):c.1189G>C (p.Ala397Pro)	ACO2 (A397P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470588	NM_001098.3(ACO2):c.1243A>G (p.Thr415Ala)	ACO2 (T415A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214021	NM_001098.3(ACO2):c.1279A>G (p.Ile427Val)	ACO2 (I427V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208770	NM_001098.3(ACO2):c.1296+38C>G	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188890	NM_001098.3(ACO2):c.1370+48A>G	ACO2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 673700	NM_001098.3(ACO2):c.1371-47G>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1309004	NM_001098.3(ACO2):c.1438A>G (p.Asn480Asp)	ACO2 (N480D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509936	NM_001098.3(ACO2):c.1482+17G>A	ACO2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1212888	NM_001098.3(ACO2):c.1483-139C>G	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677060	NM_001098.3(ACO2):c.1483-116G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682549	NM_001098.3(ACO2):c.1483-11C>T	ACO2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486673	NM_001098.3(ACO2):c.1549A>T (p.Thr517Ser)	ACO2 (T517S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 676666	NM_001098.3(ACO2):c.1605+3G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380965	NM_001098.3(ACO2):c.1605+7G>A	ACO2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 377428	NM_001098.3(ACO2):c.1605+12C>T	ACO2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 675591	NM_001098.3(ACO2):c.1605+93G>A	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252375	NM_001098.3(ACO2):c.1606-106G>A	ACO2, LOC130067543	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507038	NM_001098.3(ACO2):c.1672G>A (p.Val558Met)	ACO2, LOC130067544 (V558M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252794	NM_001098.3(ACO2):c.1714G>A (p.Asp572Asn)	ACO2, LOC130067544 (D572N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683142	NM_001098.3(ACO2):c.1761+313A>G	ACO2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280168	NM_001098.3(ACO2):c.1762-73_1762-70del	ACO2, POLR3H	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1187343	NM_001098.3(ACO2):c.1762-35G>T	POLR3H, ACO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1254798	NM_001098.3(ACO2):c.1762-18_1762-12dup	ACO2, POLR3H	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 514779	NM_001098.3(ACO2):c.1770G>A (p.Gly590=)	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 214024	NM_001098.3(ACO2):c.1802G>A (p.Gly601Asp)	ACO2, POLR3H (G601D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2575628	NM_001098.3(ACO2):c.1849C>G (p.Leu617Val)	ACO2, POLR3H (L617V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1183501	NM_001098.3(ACO2):c.1953+186T>C	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1216667	NM_001098.3(ACO2):c.1953+274del	ACO2, POLR3H	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 673391	NM_001098.3(ACO2):c.1954-285T>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 680077	NM_001098.3(ACO2):c.1954-171C>T	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 675927	NM_001098.3(ACO2):c.1954-32G>C	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 511465	NM_001098.3(ACO2):c.1954-17C>T	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 136264	NM_001098.3(ACO2):c.1954-13G>A	POLR3H, ACO2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign

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