ClinVar for MedGen (Select 934644) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235910	NM_031921.6(ATAD3B):c.207_213delTTACGCCinsCCATGTCA (p.Tyr70Hisfs)	ATAD3A (Y70fs)	Indel (frameshift variant +1 more)	Harel-Yoon syndrome +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 3068946	NC_000001.10:g.(?_1447541)_(1454371_1455520)del	ATAD3A	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 2682365	NC_000001.10:g.(?_1447541)_(1447854_1451391)del	ATAD3A	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 2664851	NM_031921.6(ATAD3B):c.1639G>C (p.Gly547Arg)	ATAD3A (G468R +3 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
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 2506007	NM_031921.6(ATAD3B):c.1611G>A (p.Trp537Ter)	ATAD3A (W458* +3 more)	Single nucleotide variant (nonsense)	Harel-Yoon syndrome	GLikely pathogenic
Select item 2499671	NM_031921.6(ATAD3B):c.1373A>C (p.Gln458Pro)	ATAD3A (Q379P +3 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 2442051	NM_031921.6(ATAD3B):c.131A>G (p.Lys44Arg)	ATAD3A (K43R +1 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1709376	NM_031921.6(ATAD3B):c.1058C>T (p.Pro353Leu)	ATAD3A (P274L +3 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1702951	NM_001170535.3(ATAD3A):c.155C>T (p.Pro52Leu)	ATAD3A (P52L)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1698743	NM_001170535.3(ATAD3A):c.547A>G (p.Lys183Glu)	ATAD3A (K104E +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
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 1694480	NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser)	ATAD3A (A137S +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +2 more	GLikely benign
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 1685550	NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)	ATAD3A (N375S +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GPathogenic/Likely pathogenic
Select item 1684261	NM_001170535.3(ATAD3A):c.480_500del (p.Glu161_Glu167del)	ATAD3A	Deletion (inframe_deletion)	Harel-Yoon syndrome	GUncertain significance
Select item 1679823	NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln)	ATAD3A (R449Q +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 1675332	NM_001170535.3(ATAD3A):c.19A>G (p.Ile7Val)	ATAD3A (I7V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1342418	NM_015557.3(CHD5):c.2043+4A>T	CHD5	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	GUncertain significance
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 1334003	NM_001170535.3(ATAD3A):c.1193G>A (p.Trp398Ter)	ATAD3A (W319* +2 more)	Single nucleotide variant (nonsense)	Harel-Yoon syndrome	GUncertain significance
Select item 1328150	NM_001170535.3(ATAD3A):c.1090-3C>G	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1328144	NM_001170535.3(ATAD3A):c.1076C>T (p.Thr359Met)	ATAD3A (T280M +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome +1 more	GUncertain significance
Select item 1301749	NM_001170535.3(ATAD3A):c.1045C>G (p.Leu349Val)	ATAD3A (L270V +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	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 1213715	NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del	ATAD3A, ATAD3B +4 more	Deletion	Harel-Yoon syndrome	GLikely pathogenic
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 1199194	NM_001170535.3(ATAD3A):c.986G>A (p.Arg329His)	ATAD3A (R250H +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	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 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 1077177	NM_001170535.3(ATAD3A):c.282+484_444+231del	ATAD3A	Deletion (splice acceptor variant +1 more)	Harel-Yoon syndrome	GPathogenic
Select item 1033348	NM_001170535.3(ATAD3A):c.521T>G (p.Val174Gly)	ATAD3A (V95G +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1032689	NM_001170535.3(ATAD3A):c.283-158G>A	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	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 1032687	NM_001170535.3(ATAD3A):c.1487C>T (p.Pro496Leu)	ATAD3A (P417L +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1029210	NM_001170535.3(ATAD3A):c.739G>A (p.Val247Met)	ATAD3A (V168M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1029209	NM_001170535.3(ATAD3A):c.700G>A (p.Gly234Arg)	ATAD3A (G155R +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 1029208	NM_001170535.3(ATAD3A):c.515-4G>C	ATAD3A	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	GUncertain significance
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 992495	Single allele	ATAD3A, ATAD3B	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 992494	Single allele	ATAD3A, ATAD3B	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 992493	Single allele	ATAD3A, ATAD3B	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 992492	Single allele	ATAD3A, ATAD3B +1 more	Deletion	Harel-Yoon syndrome	GPathogenic
Select item 992491	NM_001170535.3(ATAD3A):c.1700AGA[1] (p.Lys568del)	ATAD3A (K489del +2 more)	Microsatellite (inframe_deletion)	Harel-Yoon syndrome	GUncertain significance
Select item 992490	NM_001170535.3(ATAD3A):c.1414del (p.His472fs)	ATAD3A (H393fs +2 more)	Deletion (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 992489	NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs)	ATAD3A (V302fs +2 more)	Duplication (frameshift variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 992488	NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro)	ATAD3A (R248P +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992487	NM_001170535.3(ATAD3A):c.707G>T (p.Gly236Val)	ATAD3A (G157V +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992486	NM_001170535.3(ATAD3A):c.508C>T (p.Arg170Trp)	ATAD3A (R170W +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 992485	NM_001170535.3(ATAD3A):c.150C>G (p.Phe50Leu)	ATAD3A (F50L)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 989289	NM_001170535.3(ATAD3A):c.964-1G>T	ATAD3A	Single nucleotide variant (splice acceptor variant)	Harel-Yoon syndrome	GLikely pathogenic
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 915434	NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn)	ATAD3A (D55N +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
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 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 587626	NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser)	ATAD3A (R321S +2 more)	Single nucleotide variant (missense variant)	Harel-Yoon syndrome	GUncertain significance
Select item 522903	NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr)	ATAD3A (H613Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 432628	NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	ATAD3A (L77V)	Single nucleotide variant (missense variant +1 more)	Harel-Yoon syndrome +3 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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 72