Related gene-specific medical variations for Gene (Select 55210) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2502134	NM_001170535.3(ATAD3A):c.-1C>T	ATAD3A, LOC129929133	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2442051	NM_001170535.3(ATAD3A):c.131A>G (p.Lys44Arg)	ATAD3A (K44R)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 2442013	NM_001170535.3(ATAD3A):c.1577C>T (p.Ser526Leu)	ATAD3A (S447L +2 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	GUncertain significance
Select item 2439306	NM_001170535.3(ATAD3A):c.52C>T (p.Pro18Ser)	ATAD3A (P18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439305	NM_001170535.3(ATAD3A):c.568G>C (p.Glu190Gln)	ATAD3A (E111Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439303	NM_001170535.3(ATAD3A):c.611C>T (p.Ala204Val)	ATAD3A (A125V +2 more)	Single nucleotide variant (missense 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 1696578	NM_001170535.3(ATAD3A):c.932C>G (p.Pro311Arg)	ATAD3A (P232R +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1693279	NM_001170535.3(ATAD3A):c.1447C>G (p.Arg483Gly)	ATAD3A (R404G +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1676430	NM_001170535.3(ATAD3A):c.283-76C>T	ATAD3A	Single nucleotide variant	not provided	GBenign
Select item 1343247	NM_001170535.3(ATAD3A):c.574_591dup (p.Glu192_Ala197dup)	ATAD3A	Duplication (inframe_insertion)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1342411	NM_001170535.3(ATAD3A):c.1751C>T (p.Ser584Phe)	ATAD3A (S505F +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 806418	GRCh37/hg19 1p36.33(chr1:1451392-1452792)x1	ATAD3A	Copy number loss	not provided	GLikely pathogenic