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

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 367474	NM_001698.3(AUH):c.*107A>G	AUH	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria type 1 +1 more	GBenign
Select item 367476	NM_001698.3(AUH):c.951A>T (p.Pro317=)	AUH	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1175398	NM_001698.3(AUH):c.943-224_943-222del	AUH	Microsatellite (intron variant)	not provided	GBenign
Select item 1207547	NM_001698.3(AUH):c.942+235A>G	AUH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516705	NM_001698.3(AUH):c.936T>C (p.Tyr312=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 136473	NM_001698.3(AUH):c.927A>G (p.Glu309=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1443635	NM_001698.3(AUH):c.926A>C (p.Glu309Ala)	AUH (E280A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 383639	NM_001698.3(AUH):c.894+13A>C	AUH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 515348	NM_001698.3(AUH):c.894+8C>A	AUH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 214150	NM_001698.3(AUH):c.866C>A (p.Ala289Glu)	AUH (A289E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 669694	NM_001698.3(AUH):c.843+188C>T	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683368	NM_001698.3(AUH):c.843+155G>A	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187039	NM_001698.3(AUH):c.843+129T>G	AUH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214149	NM_001698.3(AUH):c.824C>T (p.Ala275Val)	AUH (A275V +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +2 more	GPathogenic/Likely pathogenic
Select item 377540	NM_001698.3(AUH):c.807G>A (p.Arg269=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1 +1 more	GLikely benign
Select item 214140	NM_001698.3(AUH):c.798G>A (p.Ala266=)	AUH	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria type 1 +1 more	GBenign/Likely benign
Select item 214148	NM_001698.3(AUH):c.791G>A (p.Gly264Glu)	AUH (G264E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 214147	NM_001698.3(AUH):c.742G>A (p.Ala248Thr)	AUH (A248T +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 214146	NM_001698.3(AUH):c.730G>A (p.Asp244Asn)	AUH (D244N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 529797	NM_001698.3(AUH):c.719C>T (p.Ala240Val)	AUH (A240V +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 136472	NM_001698.3(AUH):c.678C>T (p.Arg226=)	AUH	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 214145	NM_001698.3(AUH):c.676C>T (p.Arg226Cys)	AUH (R226C +2 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +1 more	GUncertain significance
Select item 2444710	NM_001698.3(AUH):c.674C>T (p.Pro225Leu)	AUH (P116L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1067674	NM_001698.3(AUH):c.656-2_656-1del	AUH	Deletion (splice acceptor variant)	3-methylglutaconic aciduria type 1 +1 more	GLikely pathogenic
Select item 683364	NM_001698.3(AUH):c.656-263T>G	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186378	NM_001698.3(AUH):c.656-289G>T	AUH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382369	NM_001698.3(AUH):c.655+15C>T	AUH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1264552	NM_001698.3(AUH):c.599-297A>G	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669693	NM_001698.3(AUH):c.598+235C>T	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214142	NM_001698.3(AUH):c.598+10A>C	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 9056	NM_001698.3(AUH):c.589C>T (p.Arg197Ter)	AUH (R197* +2 more)	Single nucleotide variant (nonsense)	3-methylglutaconic aciduria type 1 +1 more	GPathogenic
Select item 422014	NM_001698.3(AUH):c.562dup (p.Leu188fs)	AUH (L159fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 30079	NM_001698.3(AUH):c.559G>A (p.Gly187Ser)	AUH (G187S +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 214151	NM_001698.3(AUH):c.535A>G (p.Ile179Val)	AUH (I179V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683359	NM_001698.3(AUH):c.506-172dup	AUH	Duplication (intron variant)	not provided	GBenign
Select item 672507	NM_001698.3(AUH):c.505+198T>C	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128520	NM_001698.3(AUH):c.483A>C (p.Ile161=)	AUH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 947236	NM_001698.3(AUH):c.464G>C (p.Gly155Ala)	AUH (G46A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 973439	NM_001698.3(AUH):c.419G>A (p.Gly140Asp)	AUH (G140D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1290450	NM_001698.3(AUH):c.419-107A>G	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291330	NM_001698.3(AUH):c.418+59A>G	AUH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214153	NM_001698.3(AUH):c.381A>G (p.Ile127Met)	AUH (I127M +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 214152	NM_001698.3(AUH):c.374G>A (p.Arg125Gln)	AUH (R125Q +1 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria type 1 +1 more	GUncertain significance
Select item 1800787	NM_001698.3(AUH):c.369A>G (p.Lys123=)	AUH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 258170	NM_001698.3(AUH):c.331-6G>A	AUH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1195646	NM_001698.3(AUH):c.331-45dup	AUH	Duplication (intron variant)	not provided	GLikely benign
Select item 1686747	NM_001698.3(AUH):c.285_287delinsTTCCA (p.Arg96fs)	AUH (R96fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 682577	NM_001698.3(AUH):c.263-5_263-2del	AUH	Deletion (splice acceptor variant)	3-methylglutaconic aciduria type 1 +1 more	GConflicting classifications of pathogenicity
Select item 385807	NM_001698.3(AUH):c.263-11C>T	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1 +1 more	GLikely benign
Select item 389737	NM_001698.3(AUH):c.262+14G>A	AUH	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria type 1 +1 more	GLikely benign
Select item 214144	NM_001698.3(AUH):c.182C>A (p.Pro61His)	AUH, LOC130002059 (P61H)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GBenign/Likely benign
Select item 214143	NM_001698.3(AUH):c.170C>T (p.Ala57Val)	AUH, LOC130002059 (A57V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 214154	NM_001698.3(AUH):c.148T>A (p.Trp50Arg)	AUH, LOC130002059 (W50R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1219237	NM_001698.3(AUH):c.140C>T (p.Pro47Leu)	LOC130002059, AUH (P47L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 386078	NM_001698.3(AUH):c.135G>A (p.Ala45=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 136474	NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)	AUH, LOC130002059 (C26Y)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GBenign
Select item 214141	NM_001698.3(AUH):c.20C>T (p.Ala7Val)	AUH, LOC130002059 (A7V)	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylglutaconic aciduria type 1 +2 more	GConflicting classifications of pathogenicity
Select item 512108	NM_001698.3(AUH):c.-13G>A	AUH, LOC130002059	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381878	NM_001698.3(AUH):c.-28T>C	AUH, LOC130002059	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509547	NM_001698.2(AUH):c.-45C>A	AUH, LOC130002059	Single nucleotide variant	not specified	GLikely benign
Select item 683351	NM_001698.2(AUH):c.-243A>G	AUH	Single nucleotide variant	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3359774	NM_001698.3(AUH):c.830_831del (p.Glu277fs)	AUH (E168fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3359633	NM_001698.3(AUH):c.862G>A (p.Val288Met)	AUH (V179M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 65