C0268525[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	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 3016028	NM_017570.5(OPLAH):c.3831C>T (p.Ser1277=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2130705	NM_017570.5(OPLAH):c.3823C>T (p.His1275Tyr)	OPLAH (H1275Y)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2894841	NM_017570.5(OPLAH):c.3822G>A (p.Glu1274=)	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 1130802	NM_017570.5(OPLAH):c.3820G>A (p.Glu1274Lys)	OPLAH (E1274K)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 788262	NM_017570.5(OPLAH):c.3808C>T (p.Leu1270=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1573775	NM_017570.5(OPLAH):c.3753T>C (p.Gly1251=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1908069	NM_017570.5(OPLAH):c.3745G>C (p.Gly1249Arg)	OPLAH (G1249R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1599755	NM_017570.5(OPLAH):c.3721-11dup	OPLAH	Duplication (intron variant)	5-Oxoprolinase deficiency	GBenign
Select item 2072722	NM_017570.5(OPLAH):c.3721-11del	OPLAH	Deletion (intron variant)	5-Oxoprolinase deficiency	GBenign
Select item 2155576	NM_017570.5(OPLAH):c.3721-12C>G	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1552957	NM_017570.5(OPLAH):c.3721-13C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2890686	NM_017570.5(OPLAH):c.3721-15C>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
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 1594896	NM_017570.5(OPLAH):c.3721-20_3721-19del	OPLAH	Deletion (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1600681	NM_017570.5(OPLAH):c.3721-20G>C	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency +1 more	GBenign
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 2059388	NM_017570.5(OPLAH):c.3717C>T (p.Pro1239=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely 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 2077614	NM_017570.5(OPLAH):c.3640C>T (p.Arg1214Cys)	OPLAH (R1214C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2746558	NM_017570.5(OPLAH):c.3623-13C>G	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2194554	NM_017570.5(OPLAH):c.3612C>G (p.Tyr1204Ter)	OPLAH (Y1204*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GPathogenic
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 2124589	NM_017570.5(OPLAH):c.3559C>T (p.Arg1187Cys)	OPLAH (R1187C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2958051	NM_017570.5(OPLAH):c.3558T>C (p.Phe1186=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1366173	NM_017570.5(OPLAH):c.3518G>T (p.Arg1173Leu)	OPLAH (R1173L)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 661332	NM_017570.5(OPLAH):c.3518G>A (p.Arg1173His)	OPLAH (R1173H)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2202595	NM_017570.5(OPLAH):c.3516C>A (p.Gly1172=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1386593	NM_017570.5(OPLAH):c.3512G>C (p.Arg1171Thr)	OPLAH (R1171T)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 3020082	NM_017570.5(OPLAH):c.3508G>A (p.Gly1170Ser)	OPLAH (G1170S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GBenign
Select item 2710042	NM_017570.5(OPLAH):c.3462-4G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1164779	NM_017570.5(OPLAH):c.3462-9C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency +1 more	GBenign
Select item 1911737	NM_017570.5(OPLAH):c.3461+17G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2183983	NM_017570.5(OPLAH):c.3461+15C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1489543	NM_017570.5(OPLAH):c.3394G>A (p.Gly1132Arg)	OPLAH (G1132R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2420405	NM_017570.5(OPLAH):c.3372G>A (p.Ala1124=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2000802	NM_017570.5(OPLAH):c.3362C>A (p.Ala1121Glu)	OPLAH (A1121E)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2196763	NM_017570.5(OPLAH):c.3327G>A (p.Leu1109=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1965747	NM_017570.5(OPLAH):c.3311T>C (p.Met1104Thr)	OPLAH (M1104T)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1909117	NM_017570.5(OPLAH):c.3304-10C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2780861	NM_017570.5(OPLAH):c.3304-11G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2726227	NM_017570.5(OPLAH):c.3303+9G>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign
Select item 1951424	NM_017570.5(OPLAH):c.3278C>T (p.Ala1093Val)	OPLAH (A1093V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
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 2893668	NM_017570.5(OPLAH):c.3254G>C (p.Arg1085Pro)	OPLAH (R1085P)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 3017064	NM_017570.5(OPLAH):c.3249_3250delinsTT (p.Gln1084Ter)	OPLAH (Q1084*)	Indel (nonsense)	5-Oxoprolinase deficiency	GPathogenic
Select item 2713034	NM_017570.5(OPLAH):c.3177G>C (p.Val1059=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1165136	NM_017570.5(OPLAH):c.3165G>A (p.Ala1055=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency +1 more	GBenign
Select item 2070849	NM_017570.5(OPLAH):c.3164C>T (p.Ala1055Val)	OPLAH (A1055V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
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 2044648	NM_017570.5(OPLAH):c.3154-12C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2887026	NM_017570.5(OPLAH):c.3154-20G>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2735850	NM_017570.5(OPLAH):c.3117G>T (p.Leu1039=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2018344	NM_017570.5(OPLAH):c.3036C>T (p.Asp1012=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1165137	NM_017570.5(OPLAH):c.3027C>T (p.Ala1009=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency +1 more	GBenign
Select item 1577549	NM_017570.5(OPLAH):c.3019-11G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2085218	NM_017570.5(OPLAH):c.3019-14C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2060603	NM_017570.5(OPLAH):c.3018+18T>C	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GBenign
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 1503598	NM_017570.5(OPLAH):c.2995C>G (p.Arg999Gly)	OPLAH (R999G)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 714717	NM_017570.5(OPLAH):c.2989C>T (p.Arg997Cys)	OPLAH (R997C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 955289	NM_017570.5(OPLAH):c.2987dup (p.Arg997fs)	OPLAH (R997fs)	Duplication (frameshift variant)	5-Oxoprolinase deficiency	GPathogenic
Select item 2139631	NM_017570.5(OPLAH):c.2981C>T (p.Ser994Phe)	OPLAH (S994F)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2157798	NM_017570.5(OPLAH):c.2975A>C (p.Asp992Ala)	OPLAH (D992A)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 844739	NM_017570.5(OPLAH):c.2973C>G (p.Asp991Glu)	OPLAH (D991E)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
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 1427039	NM_017570.5(OPLAH):c.2957C>T (p.Ser986Leu)	OPLAH (S986L)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2050365	NM_017570.5(OPLAH):c.2952G>A (p.Val984=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1442025	NM_017570.5(OPLAH):c.2927A>C (p.Gln976Pro)	OPLAH (Q976P)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2041817	NM_017570.5(OPLAH):c.2905C>T (p.Arg969Cys)	OPLAH (R969C)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
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 1973429	NM_017570.5(OPLAH):c.2872-4C>T	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2025247	NM_017570.5(OPLAH):c.2871+13A>C	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2161028	NM_017570.5(OPLAH):c.2841C>T (p.Asp947=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1164217	NM_017570.5(OPLAH):c.2832C>T (p.Tyr944=)	OPLAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790907	NM_017570.5(OPLAH):c.2792A>G (p.Gln931Arg)	OPLAH (Q931R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1981890	NM_017570.5(OPLAH):c.2733C>T (p.Ser911=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 1398970	NM_017570.5(OPLAH):c.2728T>A (p.Cys910Ser)	OPLAH (C910S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2042941	NM_017570.5(OPLAH):c.2722C>T (p.Pro908Ser)	OPLAH (P908S)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GBenign
Select item 2148420	NM_017570.5(OPLAH):c.2705G>A (p.Arg902Gln)	OPLAH (R902Q)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 1057349	NM_017570.5(OPLAH):c.2693C>T (p.Thr898Met)	OPLAH (T898M)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GUncertain significance
Select item 2054459	NM_017570.5(OPLAH):c.2687C>T (p.Ala896Val)	OPLAH (A896V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2770865	NM_017570.5(OPLAH):c.2677C>T (p.Gln893Ter)	OPLAH (Q893*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GPathogenic
Select item 2870863	NM_017570.5(OPLAH):c.2669del (p.Gly890fs)	OPLAH (G890fs)	Deletion (frameshift variant)	5-Oxoprolinase deficiency	GPathogenic
Select item 650875	NM_017570.5(OPLAH):c.2669G>C (p.Gly890Ala)	OPLAH (G890A)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2048940	NM_017570.5(OPLAH):c.2665G>A (p.Gly889Arg)	OPLAH (G889R)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GLikely benign
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 1170468	NM_017570.5(OPLAH):c.2636C>T (p.Ala879Val)	OPLAH (A879V)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency +1 more	GBenign
Select item 2173852	NM_017570.5(OPLAH):c.2588C>T (p.Thr863Ile)	OPLAH (T863I)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 752904	NM_017570.5(OPLAH):c.2568C>T (p.His856=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GBenign
Select item 572337	NM_017570.5(OPLAH):c.2557C>T (p.Arg853Ter)	OPLAH (R853*)	Single nucleotide variant (nonsense)	5-Oxoprolinase deficiency	GPathogenic
Select item 2054056	NM_017570.5(OPLAH):c.2539G>A (p.Val847Met)	OPLAH (V847M)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2891157	NM_017570.5(OPLAH):c.2534G>C (p.Arg845Pro)	OPLAH (R845P)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 2061240	NM_017570.5(OPLAH):c.2534G>A (p.Arg845Gln)	OPLAH (R845Q)	Single nucleotide variant (missense variant)	5-Oxoprolinase deficiency	GUncertain significance
Select item 791681	NM_017570.5(OPLAH):c.2523G>A (p.Pro841=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GBenign
Select item 2712283	NM_017570.5(OPLAH):c.2514G>A (p.Val838=)	OPLAH	Single nucleotide variant (synonymous variant)	5-Oxoprolinase deficiency	GLikely benign
Select item 2712670	NM_017570.5(OPLAH):c.2512-5G>A	OPLAH	Single nucleotide variant (intron variant)	5-Oxoprolinase deficiency	GLikely benign

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