ClinVar for MedGen (Select 1716458) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24996151.	NM_001170535.3(ATAD3A):c.385-2A>C GRCh37: Chr1:1453094 GRCh38: Chr1:1517714	ATAD3A		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24420572.	NM_031921.6(ATAD3B):c.1384G>A (p.Ala462Thr) GRCh37: Chr1:1463121 GRCh38: Chr1:1527741	ATAD3A	A383T, A461T, A462T, A510T	Inborn genetic diseases, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Uncertain significance (Apr 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24420133.	NM_031921.6(ATAD3B):c.1577C>T (p.Ser526Leu) GRCh37: Chr1:1464674 GRCh38: Chr1:1529294	ATAD3A	S447L, S525L, S526L, S574L	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 17059784.	NM_031921.6(ATAD3B):c.1651G>T (p.Glu551Ter) GRCh37: Chr1:1469342 GRCh38: Chr1:1533962	ATAD3A	E472, E550, E551, E599	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Uncertain significance	no assertion criteria provided
Select item 17058465.	NM_031921.6(ATAD3B):c.868C>T (p.Arg290Cys) GRCh37: Chr1:1458241 GRCh38: Chr1:1522861	ATAD3A	R211C, R289C, R290C, R338C	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Uncertain significance	no assertion criteria provided
Select item 16944806.	NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser) GRCh37: Chr1:1455652 GRCh38: Chr1:1520272	ATAD3A	A137S, A216S, A264S	not provided, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Likely benign (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13432677.	NM_001170535.3:c.[574_591dup];[750G>A]			Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Likely pathogenic (Nov 21, 2021)	criteria provided, single submitter
Select item 13213078.	NM_001170535.3(ATAD3A):c.1735C>T (p.Arg579Cys) GRCh37: Chr1:1469426 GRCh38: Chr1:1534046	ATAD3A	R500C, R579C, R627C	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 13212469.	NM_001170535.3(ATAD3A):c.1442G>A (p.Arg481Gln) GRCh37: Chr1:1463179 GRCh38: Chr1:1527799	ATAD3A	R402Q, R481Q, R529Q	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 129833710.	NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly) GRCh37: Chr1:1459261 GRCh38: Chr1:1523881	ATAD3A	R257G, R336G, R384G	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Uncertain significance (Apr 19, 2021)	criteria provided, single submitter
Select item 121371611.	NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp) GRCh37: Chr1:1464674 GRCh38: Chr1:1529294	ATAD3A	S447W, S526W, S574W	not provided, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome, Harel-Yoon syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119919512.	NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter) GRCh37: Chr1:1459327 GRCh38: Chr1:1523947	ATAD3A	K279, K358, K406*	Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119919313.	NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp) GRCh37: Chr1:1453123 GRCh38: Chr1:1517743	ATAD3A	R138W, R186W, R59W	Inborn genetic diseases, not provided, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Uncertain significance (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 118547714.	NM_001170535.3(ATAD3A):c.*154C>T GRCh37: Chr1:1469606 GRCh38: Chr1:1534226	ATAD3A		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118547615.	NM_001170535.3(ATAD3A):c.*147G>C GRCh37: Chr1:1469599 GRCh38: Chr1:1534219	ATAD3A		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118547516.	NM_001170535.3(ATAD3A):c.*146C>G GRCh37: Chr1:1469598 GRCh38: Chr1:1534218	ATAD3A		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118547417.	NM_001170535.3(ATAD3A):c.*94G>A GRCh37: Chr1:1469546 GRCh38: Chr1:1534166	ATAD3A		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118547318.	NM_001170535.3(ATAD3A):c.1615-85T>C GRCh37: Chr1:1469221 GRCh38: Chr1:1533841	ATAD3A		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 118540219.	NM_001170535.3(ATAD3A):c.206-12T>C GRCh37: Chr1:1451380 GRCh38: Chr1:1516000	ATAD3A		Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome	Benign (Jul 14, 2021)	criteria provided, single submitter
Select item 99257420.	NM_001170535.3(ATAD3A):c.736A>G (p.Lys246Glu) GRCh37: Chr1:1455983 GRCh38: Chr1:1520603	ATAD3A	K167E, K246E, K294E	Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Uncertain significance (Dec 18, 2020)	criteria provided, single submitter
Select item 82805121.	NM_001170535.3(ATAD3A):c.230T>G (p.Leu77Arg) GRCh37: Chr1:1451416 GRCh38: Chr1:1516036	ATAD3A	L77R	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Pathogenic (Mar 8, 2022)	no assertion criteria provided
Select item 82805022.	NM_001170535.3(ATAD3A):c.490C>T (p.Gln164Ter) GRCh37: Chr1:1454346 GRCh38: Chr1:1518966	ATAD3A	Q212, Q164, Q85*	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	Pathogenic (Mar 8, 2022)	no assertion criteria provided
Select item 79176623.	NM_001170535.3(ATAD3A):c.1267-8C>G GRCh37: Chr1:1461833 GRCh38: Chr1:1526453	ATAD3A		Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, not provided	Benign/Likely benign (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78644524.	NM_001170535.3(ATAD3A):c.1215-6T>C GRCh37: Chr1:1460614 GRCh38: Chr1:1525234	ATAD3A		Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, not provided	Benign/Likely benign (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73380125.	NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=) GRCh37: Chr1:1464699 GRCh38: Chr1:1529319	ATAD3A		Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, not provided	Likely benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73380026.	NM_001170535.3(ATAD3A):c.750+10C>A GRCh37: Chr1:1456007 GRCh38: Chr1:1520627	ATAD3A		Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, not provided	Likely benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73379927.	NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=) GRCh37: Chr1:1455678 GRCh38: Chr1:1520298	ATAD3A		Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, not provided	Likely benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63701828.	NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg) GRCh37: Chr1:1460622 GRCh38: Chr1:1525242	ATAD3A	L406R, L454R, L327R	Congenital cerebellar hypoplasia	Pathogenic (May 30, 2019)	criteria provided, single submitter
Select item 43262829.	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) GRCh37: Chr1:1451415 GRCh38: Chr1:1516035	ATAD3A	L77V	Harel-Yoon syndrome, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, Harel-Yoon syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations

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Items: 29