"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FTCD"[g - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 246

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128814	NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 93944	NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 93945	NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)	FTCD, COL6A2	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency +5 more	GBenign
Select item 93948	NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)	COL6A2, FTCD	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 93950	NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +5 more	GBenign/Likely benign
Select item 128815	NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)	COL6A2, FTCD (A994T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +6 more	GBenign/Likely benign
Select item 93952	NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)	COL6A2, FTCD	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 958004	NM_206965.2(FTCD):c.1615C>T (p.Arg539Trp)	FTCD (P532L +1 more)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 1110836	NM_206965.2(FTCD):c.1614C>T (p.Thr538=)	FTCD (P532S)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2696761	NM_206965.2(FTCD):c.1608G>A (p.Leu536=)	FTCD (G530R)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 194395	NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter)	FTCD (L536*)	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2177392	NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)	FTCD (T524N +1 more)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1085854	NM_206965.2(FTCD):c.1590A>G (p.Ala530=)	FTCD (T524A)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1415019	NM_206965.2(FTCD):c.1589C>T (p.Ala530Val)	FTCD (A530V)	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 2954983	NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)	FTCD (A525V)	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2806923	NM_206965.2(FTCD):c.1563C>T (p.Leu521=)	FTCD (P515S)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1400411	NM_206965.2(FTCD):c.1549C>T (p.Arg517Cys)	FTCD (R517C)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 1127722	NM_206965.2(FTCD):c.1545C>T (p.His515=)	FTCD	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 975235	NM_206965.2(FTCD):c.1540A>G (p.Ile514Val)	FTCD (I514V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2882399	NM_206965.2(FTCD):c.1540-6C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 340413	NM_206965.2(FTCD):c.1540-17_1540-16del	COL6A2, FTCD	Deletion (intron variant)	Myosclerosis +2 more	GConflicting classifications of pathogenicity
Select item 1589554	NM_206965.2(FTCD):c.1539+16G>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 842677	NM_206965.2(FTCD):c.1539+4_1539+11del	FTCD	Deletion (intron variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2039791	NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys)	FTCD (E508K)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1358286	NM_206965.2(FTCD):c.1521C>G (p.Asp507Glu)	FTCD (D507E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1958514	NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr)	FTCD (I505T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2718949	NM_206965.2(FTCD):c.1497C>T (p.Leu499=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 340414	NM_206965.2(FTCD):c.1470C>T (p.Gly490=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	Collagen 6-related myopathy +3 more	GBenign
Select item 1957014	NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)	FTCD (M489L)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 595818	NM_206965.2(FTCD):c.1448C>T (p.Ala483Val)	FTCD (A483V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1529792	NM_206965.2(FTCD):c.1444-19C>G	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2864903	NM_206965.2(FTCD):c.1443+17del	FTCD	Deletion (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 1094396	NM_206965.2(FTCD):c.1443+12C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1168510	NM_206965.2(FTCD):c.1443+4dup	FTCD	Duplication (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 340415	NM_206965.2(FTCD):c.1443+9del	FTCD	Deletion (intron variant)	Glutamate formiminotransferase deficiency	GBenign/Likely benign
Select item 1005867	NM_206965.2(FTCD):c.1429C>T (p.Arg477Trp)	FTCD (R477W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 340416	NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln)	FTCD (R470Q)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GLikely benign
Select item 1443575	NM_206965.2(FTCD):c.1391_1392delinsTG (p.Ala464Val)	FTCD (A464V)	Indel (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95424	NM_206965.2(FTCD):c.1392C>G (p.Ala464=)	FTCD	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2153834	NM_206965.2(FTCD):c.1389G>A (p.Pro463=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1159391	NM_206965.2(FTCD):c.1383G>T (p.Leu461=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1155721	NM_206965.2(FTCD):c.1380G>A (p.Ser460=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1402273	NM_206965.2(FTCD):c.1379C>T (p.Ser460Leu)	FTCD (S460L)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1532335	NM_206965.2(FTCD):c.1371G>A (p.Thr457=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 194078	NM_206965.2(FTCD):c.1366dup (p.Glu456fs)	FTCD (E456fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 666112	NM_206965.2(FTCD):c.1364C>T (p.Ala455Val)	FTCD (A455V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 1355344	NM_206965.2(FTCD):c.1363G>A (p.Ala455Thr)	FTCD (A455T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 209155	NM_206965.2(FTCD):c.1358C>T (p.Thr453Met)	FTCD (T453M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 766703	NM_206965.2(FTCD):c.1353G>A (p.Pro451=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 340418	NM_206965.2(FTCD):c.1352C>T (p.Pro451Leu)	FTCD (P451L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 340419	NM_206965.2(FTCD):c.1337G>A (p.Arg446Gln)	FTCD (R446Q)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 1373261	NM_206965.2(FTCD):c.1336C>T (p.Arg446Trp)	FTCD (R446W)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 1080247	NM_206965.2(FTCD):c.1317C>T (p.Ala439=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1376953	NM_206965.2(FTCD):c.1311GGC[1] (p.Ala439del)	FTCD (A439del)	Microsatellite (inframe_deletion)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 766267	NM_206965.2(FTCD):c.1314G>A (p.Ala438=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 95423	NM_206965.2(FTCD):c.1313C>T (p.Ala438Val)	FTCD (A438V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +2 more	GBenign
Select item 645399	NM_206965.2(FTCD):c.1312G>A (p.Ala438Thr)	FTCD (A438T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 716512	NM_206965.2(FTCD):c.1311G>A (p.Thr437=)	FTCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433752	NM_206965.2(FTCD):c.1307G>A (p.Arg436His)	FTCD (R436H)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 1593293	NM_206965.2(FTCD):c.1305-15T>C	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1557249	NM_206965.2(FTCD):c.1305-17C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1585096	NM_206965.2(FTCD):c.1304+20C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1602331	NM_206965.2(FTCD):c.1304+16C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2705862	NM_206965.2(FTCD):c.1302C>T (p.Asp434=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1349276	NM_206965.2(FTCD):c.1293G>C (p.Glu431Asp)	FTCD (E431D)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2723229	NM_206965.2(FTCD):c.1287A>C (p.Thr429=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 971763	NM_206965.2(FTCD):c.1273C>T (p.Leu425Phe)	FTCD (L425F)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 2792905	NM_206965.2(FTCD):c.1261-1G>A	FTCD	Single nucleotide variant (splice acceptor variant)	Glutamate formiminotransferase deficiency	GLikely pathogenic
Select item 1608493	NM_206965.2(FTCD):c.1261-8T>C	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2753875	NM_206965.2(FTCD):c.1261-18T>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1480234	NM_206965.2(FTCD):c.1261-19T>G	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 719689	NM_206965.2(FTCD):c.1260+9C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2196296	NM_206965.2(FTCD):c.1252G>A (p.Ala418Thr)	FTCD (A418T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 3013863	NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)	FTCD (D412N)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 340422	NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys)	FTCD (T407K)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GBenign/Likely benign
Select item 729426	NM_206965.2(FTCD):c.1206G>A (p.Ser402=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1621085	NM_206965.2(FTCD):c.1194C>T (p.Phe398=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 800172	NM_206965.2(FTCD):c.1168A>G (p.Thr390Ala)	FTCD (T390A)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GBenign/Likely benign
Select item 340424	NM_206965.2(FTCD):c.1166C>G (p.Thr389Arg)	FTCD (T389R)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 3010510	NM_206965.2(FTCD):c.1138G>A (p.Gly380Arg)	FTCD (G380R)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 340425	NM_206965.2(FTCD):c.1122G>A (p.Val374=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1600705	NM_206965.2(FTCD):c.1099-20dup	FTCD	Duplication (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 2911933	NM_206965.2(FTCD):c.1068_1098+24del	FTCD	Deletion (splice donor variant)	Glutamate formiminotransferase deficiency	GLikely pathogenic
Select item 2725137	NM_206965.2(FTCD):c.1098+20C>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1674773	NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG	FTCD	Microsatellite (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2894354	NM_206965.2(FTCD):c.1097T>C (p.Met366Thr)	FTCD (M366T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1054702	NM_206965.2(FTCD):c.1077GGC[2] (p.Ala365del)	FTCD (A365del)	Microsatellite (inframe_deletion)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2142288	NM_206965.2(FTCD):c.1078G>A (p.Ala360Thr)	FTCD (A360T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2079073	NM_206965.2(FTCD):c.1076T>G (p.Val359Gly)	FTCD (V359G)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 340426	NM_206965.2(FTCD):c.1050C>G (p.Arg350=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency +1 more	GBenign
Select item 1113427	NM_206965.2(FTCD):c.1032G>C (p.Val344=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1115535	NM_206965.2(FTCD):c.1023C>T (p.Arg341=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1021953	NM_206965.2(FTCD):c.1016C>A (p.Ser339Tyr)	FTCD (S339Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 577189	NM_206965.2(FTCD):c.1015T>A (p.Ser339Thr)	FTCD (S339T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1627789	NM_206965.2(FTCD):c.1007G>T (p.Gly336Val)	FTCD (G336V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2011065	NM_206965.2(FTCD):c.1002C>G (p.Gly334=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1134066	NM_206965.2(FTCD):c.999A>C (p.Arg333=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 4019	NM_206965.2(FTCD):c.990dup (p.Pro331fs)	FTCD (P331fs)	Duplication (frameshift variant)	Glutamate formiminotransferase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1407718	NM_206965.2(FTCD):c.988G>A (p.Gly330Arg)	FTCD (G330R)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2147993	NM_206965.2(FTCD):c.987C>G (p.Arg329=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign

<< First< Prev

Page of 3