"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3071198	NC_000023.11:g.38352554T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3074790	NM_000531.6(OTC):c.-5A>C	OTC	Single nucleotide variant (5 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2636234	NM_000531.6(OTC):c.62T>C (p.Met21Thr)	OTC (M21T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1127252	NM_000531.6(OTC):c.66T>C (p.Val22=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074720	NM_000531.6(OTC):c.78-10C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3072519	NM_000531.6(OTC):c.78G>T (p.Arg26=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1917235	NM_000531.6(OTC):c.88C>T (p.Pro30Ser)	OTC (P30S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3073515	NM_000531.6(OTC):c.216G>A (p.Glu72=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074723	NM_000531.6(OTC):c.217-15G>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3071154	NM_000531.6(OTC):c.217-14T>C	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1615336	NM_000531.6(OTC):c.217-13C>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 589416	NM_000531.6(OTC):c.270T>C (p.Ser90=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 589038	NM_000531.6(OTC):c.272C>T (p.Thr91Ile)	OTC (T91I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +2 more	GUncertain significance
Select item 3071926	NM_000531.6(OTC):c.285G>T (p.Leu95Phe)	OTC (L95F)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3070914	NM_000531.6(OTC):c.355G>T (p.Gly119Cys)	OTC (G119C)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1150679	NM_000531.6(OTC):c.357T>C (p.Gly119=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 529419	NM_000531.6(OTC):c.360G>A (p.Val120=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3070924	NM_000531.6(OTC):c.362A>G (p.Asn121Ser)	OTC (N121S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1300128	NM_000531.6(OTC):c.368G>A (p.Ser123Asn)	OTC (S123N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3070459	NM_000531.6(OTC):c.404C>T (p.Ala135Val)	OTC (A135V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2004880	NM_000531.6(OTC):c.448A>T (p.Thr150Ser)	OTC (T150S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 3072768	NM_000531.6(OTC):c.457A>G (p.Lys153Glu)	OTC (K153E)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3071638	NM_000531.6(OTC):c.475A>G (p.Ile159Val)	OTC (I159V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3069921	NM_000531.6(OTC):c.497T>C (p.Leu166Ser)	OTC (L166S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 728308	NM_000531.6(OTC):c.534G>A (p.Thr178=)	OTC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 449382	NM_000531.6(OTC):c.540+265G>A	OTC	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic
Select item 740507	NM_000531.6(OTC):c.541-8C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency +1 more	GLikely benign
Select item 1169934	NM_000531.6(OTC):c.556C>T (p.Leu186=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GBenign/Likely benign
Select item 3071884	NM_000531.6(OTC):c.580A>G (p.Ile194Val)	OTC (I194V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1656315	NM_000531.6(OTC):c.591G>A (p.Gly197=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 794111	NM_000531.6(OTC):c.609C>T (p.Ser203=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074769	NM_000531.6(OTC):c.617T>C (p.Met206Thr)	OTC (M206T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 368259	NM_000531.6(OTC):c.621C>T (p.Ser207=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency +1 more	GBenign/Likely benign
Select item 426468	NM_000531.6(OTC):c.626C>G (p.Ala209Gly)	OTC (A209G)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GUncertain significance
Select item 2014488	NM_000531.6(OTC):c.636A>C (p.Gly212=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 754636	NM_000531.6(OTC):c.642C>T (p.His214=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1308187	NM_000531.6(OTC):c.650C>G (p.Ala217Gly)	OTC (A217G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3071488	NM_000531.6(OTC):c.689C>T (p.Thr230Ile)	OTC (T230I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3070749	NM_000531.6(OTC):c.718-7A>G	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1423588	NM_000531.6(OTC):c.722G>A (p.Gly241Asp)	OTC (G241D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1626855	NM_000531.6(OTC):c.736C>G (p.Leu246Val)	OTC (L246V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 3071402	NM_000531.6(OTC):c.756A>C (p.Glu252Asp)	OTC (E252D)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 754013	NM_000531.6(OTC):c.762G>A (p.Ala254=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3071802	NM_000531.6(OTC):c.773A>G (p.Asn258Ser)	OTC (N258S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1092499	NM_000531.6(OTC):c.789C>T (p.Asp263=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3070037	NM_000531.6(OTC):c.800G>A (p.Ser267Asn)	OTC (S267N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 93224	NM_000531.6(OTC):c.808C>G (p.Gln270Glu)	OTC (Q270E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913762	NM_000531.6(OTC):c.814G>A (p.Glu272Lys)	OTC (E272K)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97337	NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)	OTC (E273del)	Microsatellite (inframe_deletion)	Ornithine carbamoyltransferase deficiency	GPathogenic/Likely pathogenic
Select item 3075057	NM_000531.6(OTC):c.848G>T (p.Gly283Val)	OTC (G283V)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1570175	NM_000531.6(OTC):c.852C>T (p.Tyr284=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074287	NM_000531.6(OTC):c.855G>C (p.Gln285His)	OTC (Q285H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1458268	NM_000531.6(OTC):c.868-14C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 2715666	NM_000531.6(OTC):c.868-13C>T	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1349942	NM_000531.6(OTC):c.889G>A (p.Asp297Asn)	OTC (D297N)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 913763	NM_000531.6(OTC):c.896C>T (p.Thr299Ile)	OTC (T299I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 1096485	NM_000531.6(OTC):c.906C>T (p.His302=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3069748	NM_000531.6(OTC):c.955C>T (p.Pro319Ser)	OTC (P319S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1586145	NM_000531.6(OTC):c.963A>G (p.Ser321=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074573	NM_000531.6(OTC):c.971T>C (p.Phe324Ser)	OTC (F324S)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 803979	NM_000531.6(OTC):c.974C>T (p.Pro325Leu)	OTC (P325L)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 1109317	NM_000531.6(OTC):c.987C>T (p.Asn329=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 1900094	NM_000531.6(OTC):c.990A>G (p.Arg330=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3074940	NM_000531.6(OTC):c.1002C>T (p.Ile334=)	OTC	Single nucleotide variant (synonymous variant)	Ornithine carbamoyltransferase deficiency	GLikely benign
Select item 3073730	NM_000531.6(OTC):c.1004T>C (p.Met335Thr)	OTC (M335T)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3075103	NM_000531.6(OTC):c.1005+5G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3073064	NM_000531.6(OTC):c.1009G>A (p.Val337Ile)	OTC (V337I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3013580	NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)	OTC (T343A)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GConflicting classifications of pathogenicity
Select item 3069293	NM_000531.6(OTC):c.1030G>C (p.Asp344His)	OTC (D344H)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 3072806	NM_000531.6(OTC):c.1043A>G (p.Gln348Arg)	OTC (Q348R)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 97104	NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)	OTC (F354C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71