Related gene-specific medical variations for Gene (Select 549) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382011	NM_001698.3(AUH):c.612_613insC (p.Met205fs)	AUH (M176fs +2 more)	Insertion (frameshift variant)	3-methylglutaconic aciduria type 1	GLikely pathogenic
Select item 3359774	NM_001698.3(AUH):c.830_831del (p.Glu277fs)	AUH (E168fs +2 more)	Microsatellite (frameshift variant)	3-Methylglutaconic aciduria +1 more	GPathogenic/Likely pathogenic
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
Select item 3132329	NM_001698.3(AUH):c.62G>T (p.Arg21Leu)	AUH, LOC130002059 (R21L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132328	NM_001698.3(AUH):c.59C>T (p.Ala20Val)	AUH, LOC130002059 (A20V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3132326	NM_001698.3(AUH):c.38G>A (p.Gly13Glu)	AUH, LOC130002059 (G13E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2919486	NM_001698.3(AUH):c.96G>A (p.Pro32=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2918231	NM_001698.3(AUH):c.153C>T (p.Ala51=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2792608	NM_001698.3(AUH):c.12G>A (p.Ala4=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2771858	NM_001698.3(AUH):c.231G>C (p.Leu77=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2715115	NM_001698.3(AUH):c.66G>C (p.Leu22=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 2610628	NM_001698.3(AUH):c.83C>T (p.Ala28Val)	AUH, LOC130002059 (A28V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607883	NM_001698.3(AUH):c.162G>C (p.Trp54Cys)	AUH, LOC130002059 (W54C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2439423	NM_001698.3(AUH):c.1A>G (p.Met1Val)	AUH, LOC130002059 (M1V)	Single nucleotide variant (missense variant +2 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2418823	NM_001698.3(AUH):c.197G>C (p.Gly66Ala)	AUH, LOC130002059 (G66A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2413627	NM_001698.3(AUH):c.174C>T (p.Ala58=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2222210	NM_001698.3(AUH):c.221A>C (p.Glu74Ala)	AUH, LOC130002059 (E74A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2195690	NM_001698.3(AUH):c.20C>A (p.Ala7Glu)	AUH, LOC130002059 (A7E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2180757	NM_001698.3(AUH):c.23C>T (p.Ala8Val)	AUH, LOC130002059 (A8V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1 +1 more	GUncertain significance
Select item 2166341	NM_001698.3(AUH):c.156G>C (p.Gln52His)	AUH, LOC130002059 (Q52H)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2085938	NM_001698.3(AUH):c.107T>C (p.Leu36Pro)	AUH, LOC130002059 (L36P)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2055032	NM_001698.3(AUH):c.204C>G (p.Ser68Arg)	AUH, LOC130002059 (S68R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 2044238	NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)	AUH, LOC130002059	Duplication (inframe_insertion +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1976807	NM_001698.3(AUH):c.39dup (p.Ser14fs)	AUH, LOC130002059 (S14fs)	Duplication (frameshift variant +1 more)	3-methylglutaconic aciduria type 1	GPathogenic
Select item 1949148	NM_001698.3(AUH):c.10G>A (p.Ala4Thr)	AUH, LOC130002059 (A4T)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1905352	NM_001698.3(AUH):c.47A>G (p.His16Arg)	AUH, LOC130002059 (H16R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1903595	NM_001698.3(AUH):c.12G>C (p.Ala4=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 1895705	NM_001698.3(AUH):c.232C>T (p.Arg78Trp)	AUH, LOC130002059 (R78W)	Single nucleotide variant (5 prime UTR variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1517551	NM_001698.3(AUH):c.25C>G (p.Pro9Ala)	AUH, LOC130002059 (P9A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1419254	NM_001698.3(AUH):c.56G>T (p.Gly19Val)	AUH, LOC130002059 (G19V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1352023	NM_001698.3(AUH):c.158G>T (p.Gly53Val)	AUH, LOC130002059 (G53V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 1321874	NG_008017.1:g.?_(11043_41520)del	AUH	Deletion	3-methylglutaconic aciduria type 1	GPathogenic
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 1060370	NM_001698.3(AUH):c.197G>T (p.Gly66Val)	AUH, LOC130002059 (G66V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 958977	NM_001698.3(AUH):c.40T>C (p.Ser14Pro)	AUH, LOC130002059 (S14P)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 850052	NM_001698.3(AUH):c.197del (p.Gly66fs)	AUH, LOC130002059 (G66fs)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria type 1	GPathogenic
Select item 810388	NM_001698.3(AUH):c.150G>A (p.Trp50Ter)	AUH, LOC130002059 (W50*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 761836	NM_001698.3(AUH):c.117G>C (p.Ser39=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 752653	NM_001698.3(AUH):c.198C>T (p.Gly66=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 751813	NM_001698.3(AUH):c.222G>A (p.Glu74=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GLikely benign
Select item 735475	NM_001698.3(AUH):c.24A>G (p.Ala8=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 685654	GRCh37/hg19 9q22.31(chr9:94117511-94122902)x1	AUH	Copy number loss	not provided	GPathogenic
Select item 547911	NM_001698.3(AUH):c.211A>C (p.Met71Leu)	AUH, LOC130002059 (M71L)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
Select item 547843	NM_001698.3(AUH):c.44T>A (p.Leu15Gln)	AUH, LOC130002059 (L15Q)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
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 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 381878	NM_001698.3(AUH):c.-28T>C	AUH, LOC130002059	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 367477	NM_001698.3(AUH):c.84G>T (p.Ala28=)	AUH, LOC130002059	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria type 1	GUncertain significance
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 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 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 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 9058	NM_001698.3(AUH):c.80del (p.Ser27fs)	AUH, LOC130002059 (S27fs)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria type 1	GPathogenic

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Items: 54