"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OPLAH"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1134698	NM_017570.5(OPLAH):c.3843T>C (p.Tyr1281=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1169835	NM_017570.5(OPLAH):c.3821A>T (p.Glu1274Val)	OPLAH (E1274V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GBenign/Likely benign
Select item 1599755	NM_017570.5(OPLAH):c.3721-11dup	OPLAH	Duplication (intron variant)	5-Oxoprolinase deficiency	GBenign
Select item 1551741	NM_017570.5(OPLAH):c.3721-16C>G	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign/Likely benign
Select item 1661448	NM_017570.5(OPLAH):c.3721-20_3721-18del	OPLAH	Deletion (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1169394	NM_017570.5(OPLAH):c.3721-20del	OPLAH	Deletion (intron variant)	5-Oxoprolinase deficiency	GBenign
Select item 714648	NM_017570.5(OPLAH):c.3720+8C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign/Likely benign
Select item 709440	NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency +1 more	GLikely benign
Select item 776390	NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=)	OPLAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 39636	NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile)	OPLAH (V1089I)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GBenign/Likely benign
Select item 748384	NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency +1 more	GLikely benign
Select item 1459596	NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter)	OPLAH (Q1006*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GPathogenic/Likely pathogenic
Select item 529417	NM_017570.5(OPLAH):c.2964C>T (p.Asp988=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GBenign/Likely benign
Select item 1144331	NM_017570.5(OPLAH):c.2880T>G (p.Ala960=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 392467	NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys)	OPLAH (R924C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +2 more	GUncertain significance
Select item 963409	NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg)	OPLAH (K885R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1565133	NM_017570.5(OPLAH):c.2512-6C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 578462	NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg)	OPLAH (G825R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 723759	NM_017570.5(OPLAH):c.2346G>T (p.Leu782=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GBenign/Likely benign
Select item 810334	NM_017570.5(OPLAH):c.2273G>A (p.Arg758His)	OPLAH (R758H)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +2 more	GUncertain significance
Select item 1332904	NM_017570.5(OPLAH):c.2260C>T (p.Arg754Cys)	OPLAH (R754C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 587493	NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys)	OPLAH (R744C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 742034	NM_017570.5(OPLAH):c.2160C>T (p.Ser720=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 776391	NM_017570.5(OPLAH):c.2097-8C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign/Likely benign
Select item 789619	NM_017570.5(OPLAH):c.2096+8G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1179092	NM_017570.5(OPLAH):c.2076C>A (p.Cys692Ter)	OPLAH (C692*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GPathogenic
Select item 652843	NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp)	OPLAH (R658W)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 853743	NM_017570.5(OPLAH):c.1909C>T (p.Arg637Trp)	OPLAH (R637W)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1033426	NM_017570.5(OPLAH):c.1850T>C (p.Met617Thr)	OPLAH (M617T)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 1440442	NM_017570.5(OPLAH):c.1754C>T (p.Thr585Met)	OPLAH (T585M)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 728164	NM_017570.5(OPLAH):c.1497C>T (p.Ile499=)	OPLAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1625046	NM_017570.5(OPLAH):c.1437C>T (p.Asp479=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1435261	NM_017570.5(OPLAH):c.1385A>G (p.Asn462Ser)	OPLAH (N462S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 643594	NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu)	OPLAH (P447L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1419530	NM_017570.5(OPLAH):c.1265C>T (p.Ala422Val)	OPLAH (A422V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1487036	NM_017570.5(OPLAH):c.1075C>T (p.Arg359Cys)	OPLAH (R359C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1473928	NM_017570.5(OPLAH):c.1030G>A (p.Ala344Thr)	OPLAH (A344T)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1533220	NM_017570.5(OPLAH):c.960G>T (p.Thr320=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1585780	NM_017570.5(OPLAH):c.949+12G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign/Likely benign
Select item 1563862	NM_017570.5(OPLAH):c.816C>T (p.Gly272=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1136669	NM_017570.5(OPLAH):c.714C>T (p.Asp238=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1429837	NM_017570.5(OPLAH):c.646G>A (p.Val216Met)	OPLAH (V216M)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 861806	NM_017570.5(OPLAH):c.587+1G>A	OPLAH	Single nucleotide variant (splice donor variant)	5-Oxoprolinase deficiency	GPathogenic/Likely pathogenic
Select item 1563236	NM_017570.5(OPLAH):c.573C>G (p.Leu191=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 785272	NM_017570.5(OPLAH):c.471G>A (p.Thr157=)	OPLAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 657572	NM_017570.5(OPLAH):c.430C>T (p.Arg144Cys)	OPLAH (R144C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 776393	NM_017570.5(OPLAH):c.402G>A (p.Leu134=)	OPLAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1179038	NM_017570.5(OPLAH):c.313_316del (p.Arg105fs)	OPLAH (R105fs)	Deletion (frameshift variant)	5-Oxoprolinase deficiency	GPathogenic
Select item 958883	NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln)	OPLAH (R91Q)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 1350501	NM_017570.5(OPLAH):c.271C>T (p.Arg91Trp)	OPLAH (R91W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1355848	NM_017570.5(OPLAH):c.212C>G (p.Ser71Cys)	OPLAH (S71C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1365287	NM_017570.5(OPLAH):c.203C>T (p.Pro68Leu)	OPLAH (P68L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1513975	NM_017570.5(OPLAH):c.158G>A (p.Arg53His)	OPLAH (R53H)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 1515678	NM_017570.5(OPLAH):c.157C>T (p.Arg53Cys)	OPLAH (R53C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1440882	NM_017570.5(OPLAH):c.136G>A (p.Ala46Thr)	OPLAH (A46T)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance

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Items: 55