"GeneDx"[submitter] AND "ATAD3A"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 2502134	NM_001170535.3(ATAD3A):c.-1C>T	ATAD3A, LOC129929133	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1710696	NM_001170535.3(ATAD3A):c.2T>A (p.Met1Lys)	ATAD3A, LOC129929133 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1707751	NM_001170535.3(ATAD3A):c.19A>C (p.Ile7Leu)	ATAD3A (I7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723099	NM_001170535.3(ATAD3A):c.70C>T (p.Pro24Ser)	ATAD3A (P24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505867	NM_001170535.3(ATAD3A):c.106G>C (p.Gly36Arg)	ATAD3A (G36R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446095	NM_001170535.3(ATAD3A):c.125C>T (p.Ala42Val)	ATAD3A (A42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503862	NM_001170535.3(ATAD3A):c.177_189del (p.Lys60fs)	ATAD3A (K60fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1304465	NM_001170535.3(ATAD3A):c.185C>T (p.Ala62Val)	ATAD3A (A62V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1878764	NM_001170535.3(ATAD3A):c.229C>A (p.Leu77Met)	ATAD3A (L77M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +3 more	GConflicting classifications of pathogenicity
Select item 452865	NM_001170535.3(ATAD3A):c.251C>T (p.Thr84Met)	ATAD3A (T84M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196697	NM_001170535.3(ATAD3A):c.281_282+1del	ATAD3A	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1329835	NM_001170535.3(ATAD3A):c.282+5G>A	ATAD3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 489346	NM_001170535.3(ATAD3A):c.283-3C>T	ATAD3A (Q142*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1328735	NM_001170535.3(ATAD3A):c.340G>A (p.Glu114Lys)	ATAD3A (E114K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804254	NM_001170535.3(ATAD3A):c.342G>C (p.Glu114Asp)	ATAD3A (E114D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986833	NM_001170535.3(ATAD3A):c.384+1G>A	ATAD3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1304069	NM_001170535.3(ATAD3A):c.385-3C>G	ATAD3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1199193	NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp)	ATAD3A (R138W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +3 more	GUncertain significance
Select item 1800895	NM_001170535.3(ATAD3A):c.440A>G (p.Gln147Arg)	ATAD3A (Q147R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305459	NM_001170535.3(ATAD3A):c.503C>G (p.Ala168Gly)	ATAD3A (A168G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2213594	NM_001170535.3(ATAD3A):c.511C>T (p.Arg171Ter)	ATAD3A (R92* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1307194	NM_001170535.3(ATAD3A):c.558G>A (p.Met186Ile)	ATAD3A (M107I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2446185	NM_001170535.3(ATAD3A):c.562C>T (p.Arg188Ter)	ATAD3A (R109* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1708659	NM_001170535.3(ATAD3A):c.601_604delinsGGGA (p.Arg201_Glu202delinsGlyLys)	ATAD3A	Indel (missense variant)	not provided	GUncertain significance
Select item 452740	NM_001170535.3(ATAD3A):c.634C>T (p.Arg212Cys)	ATAD3A (R260C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452211	NM_001170535.3(ATAD3A):c.658C>T (p.Gln220Ter)	ATAD3A (Q268* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 453143	NM_001170535.3(ATAD3A):c.721G>C (p.Val241Leu)	ATAD3A (V289L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500556	NM_001170535.3(ATAD3A):c.722T>C (p.Val241Ala)	ATAD3A (V162A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452866	NM_001170535.3(ATAD3A):c.750G>A (p.Thr250=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1700522	NM_001170535.3(ATAD3A):c.797A>G (p.Asn266Ser)	ATAD3A (N187S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577564	NM_001170535.3(ATAD3A):c.817C>T (p.Arg273Cys)	ATAD3A (R194C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306644	NM_001170535.3(ATAD3A):c.859G>C (p.Glu287Gln)	ATAD3A (E208Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178430	NM_001170535.3(ATAD3A):c.882T>G (p.Leu294=)	ATAD3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2572717	NM_001170535.3(ATAD3A):c.941C>T (p.Ala314Val)	ATAD3A (A235V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704755	NM_001170535.3(ATAD3A):c.944T>C (p.Leu315Pro)	ATAD3A (L236P +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 1307193	NM_001170535.3(ATAD3A):c.964-5G>A	ATAD3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1202319	NM_001170535.3(ATAD3A):c.980G>T (p.Arg327Leu)	ATAD3A (R248L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2572856	NM_001170535.3(ATAD3A):c.1024C>T (p.Arg342Cys)	ATAD3A (R263C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371334	NM_001170535.3(ATAD3A):c.1074G>T (p.Lys358Asn)	ATAD3A (K279N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304475	NM_001170535.3(ATAD3A):c.1124T>A (p.Ile375Asn)	ATAD3A (I296N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136073	NM_001170535.3(ATAD3A):c.1266+1G>A	ATAD3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 1686723	NM_001170535.3(ATAD3A):c.1338G>T (p.Lys446Asn)	ATAD3A (K367N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2443609	NM_001170535.3(ATAD3A):c.1395_1406del (p.Asp465_Asn468del)	ATAD3A	Deletion (inframe_deletion)	not provided	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 1327779	NM_001170535.3(ATAD3A):c.1507C>T (p.Arg503Cys)	ATAD3A (R424C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1213716	NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp)	ATAD3A (S447W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +2 more	GUncertain significance
Select item 225696	NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	ATAD3A (R528W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2443612	NM_001170535.3(ATAD3A):c.1603G>A (p.Val535Met)	ATAD3A (V456M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032688	NM_001170535.3(ATAD3A):c.1633G>A (p.Glu545Lys)	ATAD3A (E466K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2591738	NM_001170535.3(ATAD3A):c.1651G>C (p.Glu551Gln)	ATAD3A (E551Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1327714	NM_001170535.3(ATAD3A):c.1667C>T (p.Thr556Ile)	ATAD3A (T477I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700383	NM_001170535.3(ATAD3A):c.1670G>A (p.Arg557His)	ATAD3A (R478H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1810561	NM_001170535.3(ATAD3A):c.1689del (p.Gln563fs)	ATAD3A (Q611fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 253626	GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	ACAP3, ACTRT2 +64 more	Copy number loss	See cases	GPathogenic
Select item 253595	GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	ACAP3, AGRN +62 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253365	GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4	SLC35E2B, CALML6 +23 more	Copy number gain	See cases	GLikely pathogenic
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 1676430	NM_001170535.3(ATAD3A):c.283-76C>T	ATAD3A	Single nucleotide variant	not provided	GBenign

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Items: 69