ClinVar for MedGen (Select 1716458) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664325	NM_031921.6(ATAD3B):c.1680_1682delTGCinsCTT (p.Ala561Phe)	ATAD3A (A482F +3 more)	Indel (missense variant)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 2585652	NM_031921.6(ATAD3B):c.527G>A (p.Arg176Gln)	ATAD3A (R224Q +3 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GBenign
Select item 2499615	NM_001170535.3(ATAD3A):c.385-2A>C	ATAD3A	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GLikely pathogenic
Select item 2442057	NM_031921.6(ATAD3B):c.1384G>A (p.Ala462Thr)	ATAD3A (A383T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2442013	NM_031921.6(ATAD3B):c.1577C>T (p.Ser526Leu)	ATAD3A (S447L +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1705978	NM_031921.6(ATAD3B):c.1651G>T (p.Glu551Ter)	ATAD3A (E472* +3 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1705846	NM_031921.6(ATAD3B):c.868C>T (p.Arg290Cys)	ATAD3A (R211C +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1694480	NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser)	ATAD3A (A137S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1343267	NM_001170535.3:c.[574_591dup];[750G>A]			Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GLikely pathogenic
Select item 1321307	NM_001170535.3(ATAD3A):c.1735C>T (p.Arg579Cys)	ATAD3A (R500C +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1321246	NM_001170535.3(ATAD3A):c.1442G>A (p.Arg481Gln)	ATAD3A (R402Q +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 1298337	NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly)	ATAD3A (R257G +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GUncertain significance
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 1199195	NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter)	ATAD3A (K279* +2 more)	Single nucleotide variant (nonsense)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 1199193	NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp)	ATAD3A (R138W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1185477	NM_001170535.3(ATAD3A):c.*154C>T	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GBenign
Select item 1185476	NM_001170535.3(ATAD3A):c.*147G>C	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GBenign
Select item 1185475	NM_001170535.3(ATAD3A):c.*146C>G	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GBenign
Select item 1185474	NM_001170535.3(ATAD3A):c.*94G>A	ATAD3A	Single nucleotide variant (3 prime UTR variant)	Harel-Yoon syndrome +2 more	GBenign
Select item 1185473	NM_001170535.3(ATAD3A):c.1615-85T>C	ATAD3A	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +1 more	GBenign
Select item 1185402	NM_001170535.3(ATAD3A):c.206-12T>C	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome +2 more	GBenign
Select item 992574	NM_001170535.3(ATAD3A):c.736A>G (p.Lys246Glu)	ATAD3A (K167E +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 828051	NM_001170535.3(ATAD3A):c.230T>G (p.Leu77Arg)	ATAD3A (L77R)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GPathogenic
Select item 828050	NM_001170535.3(ATAD3A):c.490C>T (p.Gln164Ter)	ATAD3A (Q212* +2 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GPathogenic
Select item 791766	NM_001170535.3(ATAD3A):c.1267-8C>G	ATAD3A	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal +2 more	GBenign/Likely benign
Select item 786445	NM_001170535.3(ATAD3A):c.1215-6T>C	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome +2 more	GBenign/Likely benign
Select item 733801	NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=)	ATAD3A	Single nucleotide variant (synonymous variant)	Harel-Yoon syndrome +2 more	GLikely benign
Select item 733800	NM_001170535.3(ATAD3A):c.750+10C>A	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome +2 more	GLikely benign
Select item 733799	NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=)	ATAD3A	Single nucleotide variant (synonymous variant)	Harel-Yoon syndrome +2 more	GLikely benign
Select item 637018	NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg)	ATAD3A (L406R +2 more)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia	GPathogenic
Select item 592109	NM_001170535.3(ATAD3A):c.283-60del	ATAD3A (R123fs)	Deletion (frameshift variant +1 more)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GPathogenic
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 225697	NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)	ATAD3A (T53I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 33