ClinVar for Gene (Select 55210) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365821	NM_001170535.3(ATAD3A):c.1687C>T (p.Gln563Ter)	ATAD3A (Q484* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3364447	NM_001170535.3(ATAD3A):c.1338G>C (p.Lys446Asn)	ATAD3A (K367N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362412	NM_001170535.3(ATAD3A):c.1315C>T (p.Arg439Cys)	ATAD3A (R360C +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 3360722	NM_001170535.3(ATAD3A):c.683C>T (p.Thr228Met)	ATAD3A (T149M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359917	NM_001170535.3(ATAD3A):c.370C>T (p.Arg124Trp)	ATAD3A (R124W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358965	NM_001170535.3(ATAD3A):c.1465T>G (p.Phe489Val)	ATAD3A (F410V +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 3339970	NM_001170535.3(ATAD3A):c.906+4G>C	ATAD3A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3337825	NM_001170535.3(ATAD3A):c.1669C>T (p.Arg557Cys)	ATAD3A (R478C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337823	NM_001170535.3(ATAD3A):c.1000G>T (p.Ala334Ser)	ATAD3A (A255S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319870	NM_001170535.3(ATAD3A):c.548A>G (p.Lys183Arg)	ATAD3A (K231R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319861	NM_001170535.3(ATAD3A):c.724A>G (p.Thr242Ala)	ATAD3A (T290A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319850	NM_001170535.3(ATAD3A):c.1111A>T (p.Met371Leu)	ATAD3A (M292L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319841	NM_001170535.3(ATAD3A):c.1669C>G (p.Arg557Gly)	ATAD3A (R557G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319830	NM_001170535.3(ATAD3A):c.128C>A (p.Pro43His)	ATAD3A (P43H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319820	NM_001170535.3(ATAD3A):c.448C>T (p.Leu150Phe)	ATAD3A (L198F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319809	NM_001170535.3(ATAD3A):c.283-12T>C	ATAD3A (C139R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319798	NM_001170535.3(ATAD3A):c.1039A>C (p.Asn347His)	ATAD3A (N268H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257389	NM_001170535.3(ATAD3A):c.1197C>G (p.Ala399=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250647	NM_001170535.3(ATAD3A):c.966C>T (p.Pro322=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247908	NC_000001.10:g.(?_1284256)_(1475190_?)dup	DVL1, MRPL20 +10 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3239422	NM_001170535.3(ATAD3A):c.1416C>G (p.His472Gln)	ATAD3A (H393Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235910	NM_001170535.3(ATAD3A):c.207_213delinsCCATGTCA (p.Tyr70fs)	ATAD3A (Y70fs)	Indel (frameshift variant +1 more)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GLikely pathogenic
Select item 3235907	GRCh38/hg38 1p36.33(chr1:1482000-1519400)	ATAD3A, ATAD3B +4 more	Copy number loss	Harel-Yoon syndrome +1 more	GLikely pathogenic
Select item 3130695	NM_001170535.3(ATAD3A):c.623G>A (p.Arg208His)	ATAD3A (R256H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130694	NM_001170535.3(ATAD3A):c.581G>A (p.Arg194Gln)	ATAD3A (R194Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130693	NM_001170535.3(ATAD3A):c.387G>C (p.Arg129Ser)	ATAD3A (R50S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130692	NM_001170535.3(ATAD3A):c.329C>T (p.Ala110Val)	ATAD3A (A158V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130689	NM_001170535.3(ATAD3A):c.283-81G>A	ATAD3A (G116R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3130688	NM_001170535.3(ATAD3A):c.28G>A (p.Gly10Ser)	ATAD3A (G10S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130687	NM_001170535.3(ATAD3A):c.269A>G (p.Gln90Arg)	ATAD3A (Q11R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130686	NM_001170535.3(ATAD3A):c.1706T>C (p.Met569Thr)	ATAD3A (M490T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130685	NM_001170535.3(ATAD3A):c.179A>T (p.Lys60Met)	ATAD3A (K60M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130684	NM_001170535.3(ATAD3A):c.1588A>T (p.Ile530Phe)	ATAD3A (I451F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130683	NM_001170535.3(ATAD3A):c.1316G>A (p.Arg439His)	ATAD3A (R439H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130682	NM_001170535.3(ATAD3A):c.144C>G (p.Ser48Arg)	ATAD3A (S48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130681	NM_001170535.3(ATAD3A):c.1259G>A (p.Arg420Gln)	ATAD3A (R341Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130680	NM_001170535.3(ATAD3A):c.1225T>C (p.Phe409Leu)	ATAD3A (F409L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130679	NM_001170535.3(ATAD3A):c.1205G>A (p.Ser402Asn)	ATAD3A (S323N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130678	NM_001170535.3(ATAD3A):c.1084G>A (p.Ala362Thr)	ATAD3A (A283T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130677	NM_001170535.3(ATAD3A):c.980G>A (p.Arg327Gln)	ATAD3A (R375Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130676	NM_001170535.3(ATAD3A):c.979C>T (p.Arg327Trp)	ATAD3A (R327W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068946	NC_000001.10:g.(?_1447541)_(1454371_1455520)del	ATAD3A	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 3067353	NM_001170535.3(ATAD3A):c.413G>A (p.Arg138Gln)	ATAD3A (R138Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3027394	GRCh37/hg19 1p36.33(chr1:1469306-1469452)x3	ATAD3A	Copy number gain	not provided	GUncertain significance
Select item 2773088	NM_001170535.3(ATAD3A):c.248A>G (p.Gln83Arg)	ATAD3A (Q4R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688296	NM_001170535.3(ATAD3A):c.751-51A>G	ATAD3A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688264	NM_001170535.3(ATAD3A):c.282+22G>A	ATAD3A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688263	NM_001170535.3(ATAD3A):c.282+21T>C	ATAD3A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688245	NM_001170535.3(ATAD3A):c.1090-71G>A	ATAD3A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688232	NM_001170535.3(ATAD3A):c.906+6A>G	ATAD3A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688185	NM_001170535.3(ATAD3A):c.108G>C (p.Gly36=)	ATAD3A	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688123	NM_001170535.3(ATAD3A):c.1615-17G>C	ATAD3A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2682365	NC_000001.10:g.(?_1447541)_(1447854_1451391)del	ATAD3A	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 2672319	NM_001170535.3(ATAD3A):c.730T>C (p.Trp244Arg)	ATAD3A (W165R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2664851	NM_001170535.3(ATAD3A):c.1639G>C (p.Gly547Arg)	ATAD3A (G468R +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 2664325	NM_001170535.3(ATAD3A):c.1680_1682delinsCTT (p.Ala561Phe)	ATAD3A (A482F +2 more)	Indel (missense variant)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 2663396	NM_001170535.3(ATAD3A):c.1430G>T (p.Gly477Val)	ATAD3A (G398V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663345	NM_001170535.3(ATAD3A):c.950G>C (p.Gly317Ala)	ATAD3A (G238A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662660	NM_001170535.3(ATAD3A):c.958C>T (p.Leu320Phe)	ATAD3A (L241F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638045	NM_001170535.3(ATAD3A):c.1721C>T (p.Ala574Val)	ATAD3A (A495V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638044	NM_001170535.3(ATAD3A):c.1698G>A (p.Gln566=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638043	NM_001170535.3(ATAD3A):c.1671C>T (p.Arg557=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638042	NM_001170535.3(ATAD3A):c.1650C>T (p.Thr550=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638041	NM_001170535.3(ATAD3A):c.1623G>A (p.Ala541=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638040	NM_001170535.3(ATAD3A):c.1597C>G (p.Leu533Val)	ATAD3A (L454V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638039	NM_001170535.3(ATAD3A):c.1588A>G (p.Ile530Val)	ATAD3A (I451V +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2638038	NM_001170535.3(ATAD3A):c.1488G>A (p.Pro496=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638037	NM_001170535.3(ATAD3A):c.1170C>T (p.Thr390=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638036	NM_001170535.3(ATAD3A):c.1114G>T (p.Asp372Tyr)	ATAD3A (D293Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638035	NM_001170535.3(ATAD3A):c.1053C>T (p.Tyr351=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638034	NM_001170535.3(ATAD3A):c.1041C>T (p.Asn347=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638033	NM_001170535.3(ATAD3A):c.1014C>T (p.Thr338=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638032	NM_001170535.3(ATAD3A):c.1005A>C (p.Thr335=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638031	NM_001170535.3(ATAD3A):c.907-5G>A	ATAD3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638030	NM_001170535.3(ATAD3A):c.875C>T (p.Thr292Met)	ATAD3A (T213M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638029	NM_001170535.3(ATAD3A):c.845C>T (p.Pro282Leu)	ATAD3A (P203L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638028	NM_001170535.3(ATAD3A):c.785A>T (p.Tyr262Phe)	ATAD3A (Y183F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638027	NM_001170535.3(ATAD3A):c.738A>C (p.Lys246Asn)	ATAD3A (K167N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638026	NM_001170535.3(ATAD3A):c.639G>C (p.Leu213=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638025	NM_001170535.3(ATAD3A):c.551A>G (p.Asn184Ser)	ATAD3A (N105S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638024	NM_001170535.3(ATAD3A):c.492G>A (p.Gln164=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638023	NM_001170535.3(ATAD3A):c.414G>A (p.Arg138=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638022	NM_001170535.3(ATAD3A):c.330G>A (p.Ala110=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638021	NM_001170535.3(ATAD3A):c.283-45G>A	ATAD3A (A128T)	Single nucleotide variant (missense variant +1 more)	Harel-Yoon syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2638020	NM_001170535.3(ATAD3A):c.39T>A (p.Gly13=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638019	NC_000001.11:g.1509223G>A	ATAD3A, ATAD3B	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 2611604	NM_001170535.3(ATAD3A):c.1025G>T (p.Arg342Leu)	ATAD3A (R342L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609736	NM_001170535.3(ATAD3A):c.37G>A (p.Gly13Ser)	ATAD3A (G13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609518	NM_001170535.3(ATAD3A):c.427G>T (p.Asp143Tyr)	ATAD3A (D64Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605940	NM_001170535.3(ATAD3A):c.1690C>G (p.Gln564Glu)	ATAD3A (Q564E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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