"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ALG12"[ - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 443

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786702	NM_014838.3(ZBED4):c.177G>A (p.Ala59=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779993	NM_014838.3(ZBED4):c.1725A>G (p.Thr575=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782764	NM_014838.3(ZBED4):c.2430C>T (p.Asn810=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770477	NM_014838.3(ZBED4):c.2472C>T (p.Ser824=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769165	NM_014838.3(ZBED4):c.3423C>T (p.Asn1141=)	ALG12, ZBED4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777762	NM_014838.3(ZBED4):c.3449T>C (p.Met1150Thr)	ALG12, ZBED4 (M1150T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 661745	NC_000022.11:g.(?_49903818)_(49907964_?)del	ALG12	Deletion	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1989647	NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)	ALG12	Single nucleotide variant (stop lost)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2139987	NM_024105.4(ALG12):c.1466G>A (p.Ter489=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1377954	NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe)	ALG12 (S488F)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1655058	NM_024105.4(ALG12):c.1461G>A (p.Pro487=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2140400	NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)	ALG12 (P487R)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1430387	NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu)	ALG12 (P487L)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2044556	NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)	ALG12	Deletion (inframe_deletion)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2413246	NM_024105.4(ALG12):c.1458G>A (p.Arg486=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1357083	NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln)	ALG12 (R486Q)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1480799	NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp)	ALG12 (R486W)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1348932	NM_024105.4(ALG12):c.1456del (p.Arg486fs)	ALG12 (R486fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 903608	NM_024105.4(ALG12):c.1452C>T (p.Leu484=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 571776	NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp)	ALG12 (E482D)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 709597	NM_024105.4(ALG12):c.1428A>G (p.Thr476=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 342040	NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg)	ALG12 (T476R)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2035870	NM_024105.4(ALG12):c.1425G>A (p.Gln475=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 376929	NM_024105.4(ALG12):c.1425G>C (p.Gln475His)	ALG12 (Q475H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2144322	NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)	ALG12 (V472I)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1555701	NM_024105.4(ALG12):c.1413C>T (p.Asn471=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1404659	NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp)	ALG12 (N471D)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2743072	NM_024105.4(ALG12):c.1404C>T (p.Pro468=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1607684	NM_024105.4(ALG12):c.1390C>T (p.Leu464=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1363711	NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys)	ALG12 (N463K)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2122775	NM_024105.4(ALG12):c.1386G>A (p.Leu462=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1716136	NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)	ALG12 (T457A)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 342041	NM_024105.4(ALG12):c.1363G>A (p.Val455Met)	ALG12 (V455M)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 342042	NM_024105.4(ALG12):c.1362C>T (p.Val454=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1509820	NM_024105.4(ALG12):c.1360G>A (p.Val454Ile)	ALG12 (V454I)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1078640	NM_024105.4(ALG12):c.1359C>T (p.Ser453=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2985857	NM_024105.4(ALG12):c.1353G>C (p.Leu451=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2112271	NM_024105.4(ALG12):c.1347G>A (p.Arg449=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 900013	NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln)	ALG12 (R449Q)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1368352	NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp)	ALG12 (R449W)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1428104	NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala)	ALG12 (T447A)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1945189	NM_024105.4(ALG12):c.1338C>T (p.Asp446=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1312966	NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys)	ALG12 (Y444C)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2811361	NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)	ALG12 (Y444H)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2421167	NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)	ALG12 (L443P)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2973684	NM_024105.4(ALG12):c.1326C>G (p.Ala442=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1571373	NM_024105.4(ALG12):c.1320C>G (p.Leu440=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2017930	NM_024105.4(ALG12):c.1317G>A (p.Gly439=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2696125	NM_024105.4(ALG12):c.1308G>T (p.Ala436=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2066579	NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)	ALG12 (A436V)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1477209	NM_024105.4(ALG12):c.1302G>A (p.Met434Ile)	ALG12 (M434I)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 342043	NM_024105.4(ALG12):c.1299C>T (p.Leu433=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 2184536	NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 3017346	NM_024105.4(ALG12):c.1284A>G (p.Ala428=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2088370	NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)	ALG12 (L427P)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2119620	NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)	ALG12 (G425V)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2863474	NM_024105.4(ALG12):c.1272A>C (p.Thr424=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 724832	NM_024105.4(ALG12):c.1272A>G (p.Thr424=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1597467	NM_024105.4(ALG12):c.1266G>A (p.Pro422=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1392468	NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu)	ALG12 (P422L)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2416658	NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)	ALG12 (P422A)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2044177	NM_024105.4(ALG12):c.1263G>C (p.Gln421His)	ALG12 (Q421H)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1940213	NM_024105.4(ALG12):c.1258G>A (p.Val420Met)	ALG12 (V420M)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 967488	NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs)	ALG12 (K416fs)	Deletion (frameshift variant)	ALG12-congenital disorder of glycosylation	GLikely pathogenic
Select item 597467	NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)	ALG12 (D415G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 758746	NM_024105.4(ALG12):c.1242C>T (p.Tyr414=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1430380	NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser)	ALG12 (R413S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2420622	NM_024105.4(ALG12):c.1239-8T>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1617126	NM_024105.4(ALG12):c.1239-16A>G	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1610815	NM_024105.4(ALG12):c.1239-17C>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2147395	NM_024105.4(ALG12):c.1238+12_1238+24del	ALG12	Deletion (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1636870	NM_024105.4(ALG12):c.1238+20C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1593366	NM_024105.4(ALG12):c.1238+18C>G	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2037513	NM_024105.4(ALG12):c.1238+14A>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1554775	NM_024105.4(ALG12):c.1238+7T>G	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1957314	NM_024105.4(ALG12):c.1238+5G>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1430263	NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr)	ALG12 (A411T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1597416	NM_024105.4(ALG12):c.1230C>T (p.Ser410=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1658054	NM_024105.4(ALG12):c.1224C>A (p.Val408=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2045525	NM_024105.4(ALG12):c.1221A>G (p.Gln407=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1449887	NM_024105.4(ALG12):c.1216C>G (p.Leu406Val)	ALG12 (L406V)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1469204	NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln)	ALG12 (R404Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1432980	NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr)	ALG12 (A398T)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 2903283	NM_024105.4(ALG12):c.1191C>T (p.Ala397=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2871879	NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)	ALG12 (V395L)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1352078	NM_024105.4(ALG12):c.1183G>A (p.Val395Met)	ALG12 (V395M)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1618656	NM_024105.4(ALG12):c.1182C>T (p.Asp394=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 96095	NM_024105.4(ALG12):c.1177A>G (p.Ile393Val)	ALG12 (I393V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2997454	NM_024105.4(ALG12):c.1176C>T (p.His392=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2421110	NM_024105.4(ALG12):c.1171C>T (p.Leu391=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 728260	NM_024105.4(ALG12):c.1164C>T (p.Asp388=)	ALG12	Single nucleotide variant (synonymous variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2894358	NM_024105.4(ALG12):c.1163-4C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1127142	NM_024105.4(ALG12):c.1163-9T>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 2416695	NM_024105.4(ALG12):c.1163-13C>T	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 445697	NM_024105.4(ALG12):c.1163-19G>A	ALG12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2969742	NM_024105.4(ALG12):c.1163-20G>A	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 1584977	NM_024105.4(ALG12):c.1163-20G>C	ALG12	Single nucleotide variant (intron variant)	ALG12-congenital disorder of glycosylation	GLikely benign
Select item 900014	NM_024105.4(ALG12):c.1158G>C (p.Gln386His)	ALG12 (Q386H)	Single nucleotide variant (missense variant)	ALG12-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1069034	NM_024105.4(ALG12):c.1156dup (p.Gln386fs)	ALG12 (Q386fs)	Duplication (frameshift variant)	ALG12-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 2083947	NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)	ALG12 (Q386E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

<< First< Prev

Page of 5