C0086647[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 2773	NM_024312.5(GNPTAB):c.3335+6T>G	GNPTAB	Single nucleotide variant (intron variant)	Mucolipidosis type II +2 more	GPathogenic
Select item 38417	NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)	GNPTAB (S685fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 38433	NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)	GNPTAB (Q278*)	Single nucleotide variant (nonsense)	Mucolipidosis type II +1 more	GPathogenic
Select item 38431	NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)	GNPTAB (D190V)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 2774	NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)	GNPTAB (K4Q)	Single nucleotide variant (missense variant)	Mucolipidosis type II +1 more	GPathogenic/Likely pathogenic
Select item 2856772	NM_000199.5(SGSH):c.1503G>A (p.Glu501=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1092227	NM_000199.5(SGSH):c.1500T>C (p.Asn500=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1022539	NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)	SGSH (N500S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2089541	NM_000199.5(SGSH):c.1491C>T (p.Pro497=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1446413	NM_000199.5(SGSH):c.1481A>G (p.Gln494Arg)	SGSH (Q494R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1618514	NM_000199.5(SGSH):c.1476T>C (p.Ser492=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2156876	NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)	SGSH (S492P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2154337	NM_000199.5(SGSH):c.1473C>T (p.Leu491=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1101197	NM_000199.5(SGSH):c.1473C>G (p.Leu491=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2762401	NM_000199.5(SGSH):c.1470G>A (p.Lys490=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1094882	NM_000199.5(SGSH):c.1467G>A (p.Glu489=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 552627	NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del)	SGSH (E489del)	Microsatellite (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 325826	NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)	SGSH (E488K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2834985	NM_000199.5(SGSH):c.1458C>A (p.Val486=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1133292	NM_000199.5(SGSH):c.1458C>T (p.Val486=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1447423	NM_000199.5(SGSH):c.1456G>C (p.Val486Leu)	SGSH (V486L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 569858	NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)	SGSH (V486I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 863613	NM_000199.5(SGSH):c.1455C>T (p.Gly485=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 1410625	NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser)	SGSH (G485S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 795011	NM_000199.5(SGSH):c.1452C>T (p.Asp484=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2142885	NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)	SGSH (D484N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 761534	NM_000199.5(SGSH):c.1449C>T (p.Pro483=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 728298	NM_000199.5(SGSH):c.1446C>T (p.Ala482=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 558220	NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)	SGSH (D484fs)	Insertion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1370564	NM_000199.5(SGSH):c.1445C>T (p.Ala482Val)	SGSH (A482V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1513800	NM_000199.5(SGSH):c.1444G>A (p.Ala482Thr)	SGSH (A482T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 739811	NM_000199.5(SGSH):c.1443C>T (p.Cys481=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2002545	NM_000199.5(SGSH):c.1440G>T (p.Val480=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1152315	NM_000199.5(SGSH):c.1440G>A (p.Val480=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1374686	NM_000199.5(SGSH):c.1438G>T (p.Val480Leu)	SGSH (V480L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2823833	NM_000199.5(SGSH):c.1434C>A (p.Pro478=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2008204	NM_000199.5(SGSH):c.1434C>T (p.Pro478=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2757673	NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)	SGSH (D477E)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2035618	NM_000199.5(SGSH):c.1431C>T (p.Asp477=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 552591	NM_000199.5(SGSH):c.1429del (p.Asp477fs)	SGSH (D477fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 722971	NM_000199.5(SGSH):c.1428C>T (p.His476=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GBenign
Select item 1454739	NM_000199.5(SGSH):c.1426del (p.His476fs)	SGSH (H476fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 2177344	NM_000199.5(SGSH):c.1425C>G (p.Thr475=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2074357	NM_000199.5(SGSH):c.1425C>A (p.Thr475=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1410905	NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser)	SGSH (T475S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2087505	NM_000199.5(SGSH):c.1422G>A (p.Glu474=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 958221	NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)	SGSH (W473C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2752377	NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)	SGSH (W473*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 2754541	NM_000199.5(SGSH):c.1417del (p.Trp473fs)	SGSH (W473fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 1075946	NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)	SGSH (W471*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 1111543	NM_000199.5(SGSH):c.1410G>A (p.Lys470=)	SGSH	Single nucleotide variant (3 prime UTR variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1567025	NM_000199.5(SGSH):c.1404G>A (p.Leu468=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1000753	NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)	SGSH (L468P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2786570	NM_000199.5(SGSH):c.1395G>A (p.Arg465=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1129317	NM_000199.5(SGSH):c.1395G>C (p.Arg465=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2068026	NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)	SGSH (R465Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 325827	NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)	SGSH (R465W)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1154758	NM_000199.5(SGSH):c.1386G>A (p.Glu462=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1082409	NM_000199.5(SGSH):c.1383G>A (p.Leu461=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1132388	NM_000199.5(SGSH):c.1380T>A (p.Leu460=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 556145	NM_000199.5(SGSH):c.1380del (p.Leu461fs)	SGSH (L461fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 619124	NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)	SGSH (Q459*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 2897531	NM_000199.5(SGSH):c.1374T>C (p.Ala458=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 992152	NM_000199.5(SGSH):c.1371T>C (p.Phe457=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GLikely benign
Select item 92610	NM_000199.5(SGSH):c.1367G>A (p.Arg456His)	SGSH (R456H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GBenign
Select item 1895488	NM_000199.5(SGSH):c.1366C>T (p.Arg456Cys)	SGSH (R456C)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1158847	NM_000199.5(SGSH):c.1365G>A (p.Pro455=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1366097	NM_000199.5(SGSH):c.1364C>T (p.Pro455Leu)	SGSH (P455L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1486529	NM_000199.5(SGSH):c.1361A>T (p.Asp454Val)	SGSH (D454V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1129222	NM_000199.5(SGSH):c.1359C>T (p.Thr453=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1655918	NM_000199.5(SGSH):c.1356C>A (p.Ala452=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1101866	NM_000199.5(SGSH):c.1356C>T (p.Ala452=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2894590	NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)	SGSH (Q449*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 1401367	NM_000199.5(SGSH):c.1345del (p.Gln449fs)	SGSH (Q449fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 2845299	NM_000199.5(SGSH):c.1344C>T (p.Thr448=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1513468	NM_000199.5(SGSH):c.1343C>T (p.Thr448Ile)	SGSH (T448I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 2706423	NM_000199.5(SGSH):c.1341G>A (p.Glu447=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 2918842	NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)	SGSH (E447G)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 5114	NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	SGSH (E447K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 1403527	NM_000199.5(SGSH):c.1338C>G (p.His446Gln)	SGSH (H446Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 762665	NM_000199.5(SGSH):c.1338C>T (p.His446=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 284238	NM_000199.5(SGSH):c.1337A>G (p.His446Arg)	SGSH (H446R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
Select item 2831487	NM_000199.5(SGSH):c.1336del (p.His446fs)	SGSH (H446fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 2093330	NM_000199.5(SGSH):c.1332C>T (p.Asp444=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 325828	NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)	SGSH (R443Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1879384	NM_000199.5(SGSH):c.1327C>T (p.Arg443Trp)	SGSH (R443W)	Single nucleotide variant (3 prime UTR variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 1513961	NM_000199.5(SGSH):c.1325G>A (p.Ser442Asn)	SGSH (S442N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1924323	NM_000199.5(SGSH):c.1323G>A (p.Arg441=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 743038	NM_000199.5(SGSH):c.1323G>C (p.Arg441=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 891642	NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)	SGSH (R441Q)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 891643	NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)	SGSH (R441W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1913706	NM_000199.5(SGSH):c.1320C>A (p.Asp440Glu)	SGSH (D440E)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 1150827	NM_000199.5(SGSH):c.1320C>T (p.Asp440=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 559101	NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 650213	NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)	SGSH (Y439C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1540925	NM_000199.5(SGSH):c.1311G>A (p.Glu437=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 550048	NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)	SGSH (W436*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 2041637	NM_000199.5(SGSH):c.1305C>T (p.Arg435=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 1412033	NM_000199.5(SGSH):c.1304G>A (p.Arg435His)	SGSH (R435H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 1400041	NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu)	SGSH (R435L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance

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