DAO[gene] - ClinVar

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

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	ABTB3, ACACB +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 1272817	NM_001917.5(DAO):c.-9-234C>T	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243869	NM_001917.5(DAO):c.-9-27T>G	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2631998	NM_001917.5(DAO):c.4C>A (p.Arg2Ser)	DAO (R2S)	Single nucleotide variant (missense variant)	DAO-related condition	GUncertain significance
Select item 3030052	NM_001917.5(DAO):c.24A>T (p.Ala8=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition	GLikely benign
Select item 730134	NM_001917.5(DAO):c.33C>T (p.Ile11=)	DAO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1343315	NM_001917.5(DAO):c.34G>A (p.Gly12Arg)	DAO (G12R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 721844	NM_001917.5(DAO):c.45C>T (p.Thr15=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition +1 more	GLikely benign
Select item 873278	NM_001917.5(DAO):c.46G>A (p.Ala16Thr)	DAO (A16T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
Select item 3057539	NM_001917.5(DAO):c.108G>A (p.Ala36=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition	GLikely benign
Select item 2632057	NM_001917.5(DAO):c.113G>A (p.Arg38His)	DAO (R38H)	Single nucleotide variant (missense variant)	DAO-related condition	GUncertain significance
Select item 3033684	NM_001917.5(DAO):c.132C>A (p.Thr44=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition	GLikely benign
Select item 3046863	NM_001917.5(DAO):c.147C>T (p.Ala49=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition	GLikely benign
Select item 3047478	NM_001917.5(DAO):c.150_155del (p.Leu51_Trp52del)	DAO	Deletion (inframe deletion)	DAO-related condition	GLikely benign
Select item 2274437	NM_001917.5(DAO):c.173A>T (p.Asp58Val)	DAO (D58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054809	NM_001917.5(DAO):c.187C>G (p.Gln63Glu)	DAO (Q63E)	Single nucleotide variant (missense variant)	DAO-related condition	GLikely benign
Select item 1287855	NM_001917.5(DAO):c.195-99C>T	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048144	NM_001917.5(DAO):c.195-7C>T	DAO	Single nucleotide variant (intron variant)	DAO-related condition	GLikely benign
Select item 873279	NM_001917.5(DAO):c.212C>T (p.Thr71Ile)	DAO (T71I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 976656	NM_001917.5(DAO):c.250G>A (p.Ala84Thr)	DAO (A84T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +1 more	GConflicting classifications of pathogenicity
Select item 3035857	NM_001917.5(DAO):c.268T>G (p.Phe90Val)	DAO (F90V)	Single nucleotide variant (missense variant)	DAO-related condition	GLikely benign
Select item 1279421	NM_001917.5(DAO):c.279G>A (p.Ser93=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition +1 more	GBenign
Select item 725454	NM_001917.5(DAO):c.300A>G (p.Glu100=)	DAO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 710573	NM_001917.5(DAO):c.308C>T (p.Pro103Leu)	DAO (P103L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2634811	NM_001917.5(DAO):c.309G>A (p.Pro103=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition	GUncertain significance
Select item 785424	NM_001917.5(DAO):c.309+10C>T	DAO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242636	NM_001917.5(DAO):c.309+337A>G	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2600891	NM_001917.5(DAO):c.314C>G (p.Pro105Arg)	DAO (P105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276143	NM_001917.5(DAO):c.344G>A (p.Arg115Gln)	DAO (R115Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054500	NM_001917.5(DAO):c.384C>T (p.Tyr128=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition	GLikely benign
Select item 3052517	NM_001917.5(DAO):c.386+2T>C	DAO	Single nucleotide variant (splice donor variant)	DAO-related condition	GLikely benign
Select item 1221443	NM_001917.5(DAO):c.386+282A>C	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283255	NM_001917.5(DAO):c.387-258A>G	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688917	NM_001917.5(DAO):c.387-1G>A	DAO	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2633646	NM_001917.5(DAO):c.391G>T (p.Gly131Cys)	DAO (G131C)	Single nucleotide variant (missense variant)	DAO-related condition	GUncertain significance
Select item 734182	NM_001917.5(DAO):c.430T>C (p.Tyr144His)	DAO (Y144H)	Single nucleotide variant (missense variant)	DAO-related condition +1 more	GBenign/Likely benign
Select item 1278213	NM_001917.5(DAO):c.453-182G>C	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048748	NM_001917.5(DAO):c.483G>A (p.Gln161=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related condition	GLikely benign
Select item 873280	NM_001917.5(DAO):c.490G>T (p.Val164Leu)	DAO (V164L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384079	NM_001917.5(DAO):c.502G>A (p.Glu168Lys)	DAO (E168K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1280278	NM_001917.5(DAO):c.507+98G>A	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247231	NM_001917.5(DAO):c.508-311T>C	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269904	NM_001917.5(DAO):c.508-55A>G	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052194	NM_001917.5(DAO):c.508-6T>C	DAO	Single nucleotide variant (intron variant)	DAO-related condition	GBenign
Select item 2465350	NM_001917.5(DAO):c.523G>A (p.Ala175Thr)	DAO (A175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598931	NM_001917.5(DAO):c.539A>G (p.Asn180Ser)	DAO (N180S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038077	NM_001917.5(DAO):c.595C>T (p.Arg199Trp)	DAO (R199W)	Single nucleotide variant (missense variant)	DAO-related condition	GLikely benign
Select item 3045347	NM_001917.5(DAO):c.596G>A (p.Arg199Gln)	DAO (R199Q)	Single nucleotide variant (missense variant)	DAO-related condition	GLikely benign
Select item 741681	NM_001917.5(DAO):c.618C>T (p.Asp206=)	DAO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268162	NM_001917.5(DAO):c.632A>T (p.Lys211Met)	DAO (K211M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258651	NM_001917.5(DAO):c.641T>C (p.Ile214Thr)	DAO (I214T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1251029	NM_001917.5(DAO):c.696-25C>T	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2634489	NM_001917.5(DAO):c.704C>T (p.Thr235Ile)	DAO (T235I)	Single nucleotide variant (missense variant +1 more)	DAO-related condition	GUncertain significance
Select item 736769	NM_001917.5(DAO):c.723C>T (p.Ile241=)	DAO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1238345	NM_001917.5(DAO):c.814-180A>G	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 744182	NM_001917.5(DAO):c.814-4C>G	DAO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 754240	NM_001917.5(DAO):c.840T>A (p.Thr280=)	DAO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047035	NM_001917.5(DAO):c.848G>A (p.Arg283Gln)	DAO (G244S +1 more)	Single nucleotide variant (missense variant)	DAO-related condition	GLikely benign
Select item 3037057	NM_001917.5(DAO):c.856C>T (p.Arg286Cys)	DAO (R286C)	Single nucleotide variant (missense variant +1 more)	DAO-related condition	GUncertain significance
Select item 2634586	NM_001917.5(DAO):c.869G>A (p.Arg290Gln)	DAO (G251S +1 more)	Single nucleotide variant (missense variant)	DAO-related condition	GUncertain significance
Select item 2635665	NM_001917.5(DAO):c.890G>A (p.Arg297His)	DAO (R297H)	Single nucleotide variant (missense variant +1 more)	DAO-related condition	GUncertain significance
Select item 1235637	NM_001917.5(DAO):c.912+69A>G	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230706	NM_001917.5(DAO):c.912+166C>T	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257998	NM_001917.5(DAO):c.913-129G>A	DAO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 740843	NM_001917.5(DAO):c.927T>C (p.Tyr309=)	DAO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688918	NM_001917.5(DAO):c.943G>A (p.Gly315Arg)	DAO (G315R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688919	NM_001917.5(DAO):c.953T>G (p.Ile318Ser)	DAO (I318S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 873281	NM_001917.5(DAO):c.962G>A (p.Gly321Glu)	DAO (G321E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 2386759	NM_001917.5(DAO):c.1028C>T (p.Pro343Leu)	DAO (P343L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672518	NM_001917.5(DAO):c.1034C>T (p.Ser345Phe)	DAO (S345F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1270746	NM_001917.5(DAO):c.*102T>C	DAO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815553	GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3	UBE3B, FOXN4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 442495	GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3	ACACB, ALKBH2 +9 more	Copy number gain	See cases	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 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

Search results

Items: 83