C2931006[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 2140708	NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)	ALG9 (R388Q +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 384997	NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	Gillessen-Kaesbach-Nishimura syndrome +2 more	GBenign/Likely benign
Select item 704070	NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)	ALG9 (Y550H +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 523889	NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)	ALG9 (Q594* +6 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GUncertain significance
Select item 1807449	NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)	ALG9 (F371L +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2106604	NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)	ALG9 (P418A +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1634940	NM_024740.2(ALG9):c.1762G>T (p.Val588Phe)	ALG9 (V369F +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3000528	NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)	ALG9 (Y587C +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2413262	NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)	ALG9 (A366T +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 703589	NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)	ALG9 (R381W +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 2158098	NM_024740.2(ALG9):c.1734-15T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2143009	NM_024740.2(ALG9):c.1734-16dup	ALG9	Duplication (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2911117	NM_024740.2(ALG9):c.1734-17del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2147010	NM_024740.2(ALG9):c.1733+19A>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2147839	NM_024740.2(ALG9):c.1733+9C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2048922	NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)	ALG9 (N383S +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 302425	NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp)	ALG9 (R554W +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 374733	NM_024740.2(ALG9):c.1659C>T (p.Pro553=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1971558	NM_024740.2(ALG9):c.1645A>G (p.Met549Val)	ALG9 (M330V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2076377	NM_024740.2(ALG9):c.1644C>G (p.Thr548=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2064260	NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)	ALG9 (I332T +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 235406	NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser)	ALG9 (I535S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1166805	NM_024740.2(ALG9):c.1602+10449A>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 1999727	NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)	ALG9 (R314T +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2182290	NM_024740.2(ALG9):c.1567A>G (p.Met523Val)	ALG9 (M304V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2996992	NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)	ALG9 (R469Q +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 166678	NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)	ALG9 (P513L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 763297	NM_024740.2(ALG9):c.1533A>G (p.Glu511=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2149220	NM_024740.2(ALG9):c.1500G>A (p.Glu500=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1366237	NM_024740.2(ALG9):c.1489A>G (p.Ile497Val)	ALG9 (I278V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 379946	NM_024740.2(ALG9):c.1473-14T>C	ALG9	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2083065	NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)	ALG9 (D271V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2166814	NM_024740.2(ALG9):c.1431A>G (p.Lys477=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2147528	NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)	ALG9 (R266K +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 660397	NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)	ALG9 (E248K +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1109910	NM_024740.2(ALG9):c.1392T>A (p.Thr464=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1397608	NM_024740.2(ALG9):c.1384A>G (p.Ile462Val)	ALG9 (I243V +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 380142	NM_024740.2(ALG9):c.1383C>T (p.Thr461=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2143973	NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)	ALG9 (T283I +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1530938	NM_024740.2(ALG9):c.1377C>T (p.Asp459=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2090307	NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)	ALG9 (R252L +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1314309	NM_024740.2(ALG9):c.1363C>T (p.Arg455Ter)	ALG9 (R236* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 387747	NM_024740.2(ALG9):c.1356A>G (p.Glu452=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2014845	NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)	ALG9 (P273R +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2163041	NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 697840	NM_024740.2(ALG9):c.1332C>T (p.His444=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2072062	NM_024740.2(ALG9):c.1325-17A>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2798204	NM_024740.2(ALG9):c.1324+10C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1925558	NM_024740.2(ALG9):c.1324+6T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2149221	NM_024740.2(ALG9):c.1320C>T (p.Phe440=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1992242	NM_024740.2(ALG9):c.1317G>C (p.Leu439=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1100636	NM_024740.2(ALG9):c.1314A>G (p.Ala438=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	Gillessen-Kaesbach-Nishimura syndrome +1 more	GLikely benign
Select item 2011582	NM_024740.2(ALG9):c.1296dup (p.Phe433fs)	ALG9 (F433fs +6 more)	Duplication (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 444271	NM_024740.2(ALG9):c.1251G>A (p.Ser417=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1509240	NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu)	ALG9 (R190L +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2138826	NM_024740.2(ALG9):c.1212G>T (p.Val404=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2008761	NM_024740.2(ALG9):c.1197A>G (p.Lys399=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1959895	NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)	ALG9 (S393R +1 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2199419	NM_024740.2(ALG9):c.1174-5A>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1957063	NM_024740.2(ALG9):c.1174-19T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2002253	NM_024740.2(ALG9):c.1173+18G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1042960	NM_024740.2(ALG9):c.1166C>T (p.Ala389Val)	ALG9 (A348V +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1602362	NM_024740.2(ALG9):c.1134T>A (p.Leu378=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2110229	NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)	ALG9 (I147M +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2110275	NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)	ALG9 (M354L +4 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1529330	NM_024740.2(ALG9):c.1038G>A (p.Pro346=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1988371	NM_024740.2(ALG9):c.1018+19G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 1949385	NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)	ALG9 (H168Y +2 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1434153	NM_024740.2(ALG9):c.992del (p.Met331fs)	ALG9 (M135fs +2 more)	Deletion (frameshift variant +2 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2149216	NM_024740.2(ALG9):c.966C>T (p.Leu322=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 390682	NM_024740.2(ALG9):c.945T>C (p.Asn315=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation +3 more	GLikely benign
Select item 1717721	NM_024740.2(ALG9):c.910T>C (p.Tyr304His)	ALG9 (Y108H +2 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2007716	NM_024740.2(ALG9):c.896-2A>G	ALG9	Single nucleotide variant (splice acceptor variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 383735	NM_024740.2(ALG9):c.896-3C>T	ALG9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2170861	NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)	ALG9 (D296E +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2010069	NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)	ALG9 (G294R +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 379945	NM_024740.2(ALG9):c.865G>A (p.Val289Ile)	ALG9 (V289I +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +3 more	GBenign
Select item 2820997	NM_024740.2(ALG9):c.846C>T (p.Leu282=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 704783	NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)	ALG9 (Y101C +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2189674	NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)	ALG9 (P69S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 388350	NM_024740.2(ALG9):c.790-4T>C	ALG9	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385426	NM_024740.2(ALG9):c.790-11C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1949128	NM_024740.2(ALG9):c.790-20T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 1648321	NM_024740.2(ALG9):c.789+11T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 512394	NM_024740.2(ALG9):c.765G>A (p.Ser255=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 96136	NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)	ALG9 (S255L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2014762	NM_024740.2(ALG9):c.754_757del (p.Phe252fs)	ALG9 (F252fs +2 more)	Microsatellite (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2086914	NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)	ALG9 (W248* +2 more)	Single nucleotide variant (nonsense +1 more)	ALG9 congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 598383	NM_024740.2(ALG9):c.741G>T (p.Arg247Ser)	ALG9 (R247S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation +3 more	GUncertain significance
Select item 2110576	NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)	ALG9 (R247G +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3015300	NM_024740.2(ALG9):c.702-9_702-8del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 96135	NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	ALG9 (A232P +2 more)	Single nucleotide variant (missense variant +1 more)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 2000304	NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)	ALG9 (A35T +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2147429	NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)	ALG9 (T3S +2 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 1524100	NM_024740.2(ALG9):c.566-1G>A	ALG9	Single nucleotide variant (splice acceptor variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 2072947	NM_024740.2(ALG9):c.546C>A (p.Gly182=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 506455	NM_024740.2(ALG9):c.537C>T (p.Leu179=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation +3 more	GLikely benign
Select item 722440	NM_024740.2(ALG9):c.504C>T (p.His168=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2177225	NM_024740.2(ALG9):c.482T>C (p.Val161Ala)	ALG9 (V161A)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 682539	NM_024740.2(ALG9):c.477-15T>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign

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