2671[HGNC] - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +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 3080044	NM_001917.5(DAO):c.4C>T (p.Arg2Cys)	DAO (R2C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631998	NM_001917.5(DAO):c.4C>A (p.Arg2Ser)	DAO (R2S)	Single nucleotide variant (missense variant)	DAO-related disorder	GUncertain significance
Select item 3030052	NM_001917.5(DAO):c.24A>T (p.Ala8=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related disorder	GLikely benign
Select item 730134	NM_001917.5(DAO):c.33C>T (p.Ile11=)	DAO	Single nucleotide variant (synonymous variant)	not provided	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)	not provided	GLikely benign
Select item 873278	NM_001917.5(DAO):c.46G>A (p.Ala16Thr)	DAO (A16T)	Single nucleotide variant (missense variant)	DAO-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3270852	NM_001917.5(DAO):c.101T>A (p.Val34Asp)	DAO (V34D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057539	NM_001917.5(DAO):c.108G>A (p.Ala36=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related disorder	GLikely benign
Select item 3358189	NM_001917.5(DAO):c.112C>T (p.Arg38Cys)	DAO (R38C)	Single nucleotide variant (missense variant)	DAO-related disorder	GUncertain significance
Select item 2632057	NM_001917.5(DAO):c.113G>A (p.Arg38His)	DAO (R38H)	Single nucleotide variant (missense variant)	DAO-related disorder	GUncertain significance
Select item 3033684	NM_001917.5(DAO):c.132C>A (p.Thr44=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related disorder	GLikely benign
Select item 3046863	NM_001917.5(DAO):c.147C>T (p.Ala49=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related disorder	GLikely benign
Select item 3047478	NM_001917.5(DAO):c.150_155del (p.Leu51_Trp52del)	DAO	Deletion	DAO-related disorder	GLikely benign
Select item 3080043	NM_001917.5(DAO):c.160C>A (p.Pro54Thr)	DAO (P54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 disorder	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 disorder	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)	DAO-related disorder +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 disorder	GLikely benign
Select item 1279421	NM_001917.5(DAO):c.279G>A (p.Ser93=)	DAO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725454	NM_001917.5(DAO):c.300A>G (p.Glu100=)	DAO	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 disorder	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 disorder	GLikely benign
Select item 3358113	NM_001917.5(DAO):c.386G>A (p.Gly129Asp)	DAO (G129D)	Single nucleotide variant (missense variant)	DAO-related disorder	GLikely benign
Select item 3052517	NM_001917.5(DAO):c.386+2T>C	DAO	Single nucleotide variant (splice donor variant)	DAO-related disorder	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 disorder	GUncertain significance
Select item 3356835	NM_001917.5(DAO):c.411A>C (p.Leu137=)	DAO	Single nucleotide variant (synonymous variant)	DAO-related disorder	GLikely benign
Select item 734182	NM_001917.5(DAO):c.430T>C (p.Tyr144His)	DAO (Y144H)	Single nucleotide variant (missense variant)	not provided	GLikely 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 disorder	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 disorder	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 disorder	GLikely benign
Select item 3045347	NM_001917.5(DAO):c.596G>A (p.Arg199Gln)	DAO (R199Q)	Single nucleotide variant (missense variant)	DAO-related disorder	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 disorder	GUncertain significance
Select item 3348720	NM_001917.5(DAO):c.717A>G (p.Gly239=)	DAO	Single nucleotide variant (synonymous variant +1 more)	DAO-related disorder	GLikely benign
Select item 736769	NM_001917.5(DAO):c.723C>T (p.Ile241=)	DAO	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 disorder	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 disorder	GUncertain significance
Select item 3080046	NM_001917.5(DAO):c.857G>A (p.Arg286His)	DAO (R286H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 disorder	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 disorder	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	GUncertain significance
Select item 3353922	NM_001917.5(DAO):c.1039C>T (p.Leu347Phe)	DAO (L347F)	Single nucleotide variant (missense variant +1 more)	DAO-related disorder	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)	SLC15A5, SLC16A7 +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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 92