ClinVar for MedGen (Select 409971) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024029	NM_032382.5(COG8):c.66G>A (p.Glu22=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2999908	NM_032382.5(COG8):c.193C>A (p.Pro65Thr)	COG8 (P65T)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2914898	NM_032382.5(COG8):c.133G>C (p.Asp45His)	COG8 (D45H)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2894092	NM_032382.5(COG8):c.1794A>C (p.Gly598=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2878169	NM_032382.5(COG8):c.1095T>C (p.Gly365=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2816392	NM_032382.5(COG8):c.1551T>G (p.Leu517=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2767500	NM_032382.5(COG8):c.132C>G (p.Pro44=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2726841	NM_032382.5(COG8):c.1583-6G>T	COG8 (G539V)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2504275	NM_032382.5(COG8):c.1396del (p.Glu466fs)	COG8 (E466fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 2440192	NM_032382.5(COG8):c.980T>G (p.Leu327Arg)	COG8 (L327R)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2440191	NM_032382.5(COG8):c.766C>T (p.Arg256Trp)	COG8 (R256W)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2194054	NM_032382.5(COG8):c.1583-6G>A	COG8 (G539E)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2173532	NM_032382.5(COG8):c.252C>T (p.Phe84=)	COG8, LOC130059306	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2153231	NM_032382.5(COG8):c.540C>T (p.Tyr180=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2121903	NM_032382.5(COG8):c.1072C>A (p.Arg358=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2111857	NM_032382.5(COG8):c.507T>G (p.Ser169Arg)	COG8 (S169R)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2082443	NM_032382.5(COG8):c.357C>G (p.Pro119=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2058233	NM_032382.5(COG8):c.598G>C (p.Glu200Gln)	COG8 (E200Q)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 2048858	NM_032382.5(COG8):c.810T>C (p.His270=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 2037811	NM_032382.5(COG8):c.164G>C (p.Gly55Ala)	COG8 (G55A)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1979852	NM_032382.5(COG8):c.1686T>C (p.Leu562=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1975270	NM_032382.5(COG8):c.378-11A>G	COG8	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1971767	NM_032382.5(COG8):c.1799G>A (p.Arg600Gln)	COG8, LOC130059304 (R613Q +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1969379	NM_032382.5(COG8):c.474T>G (p.Ile158Met)	COG8 (I158M)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1964711	NM_032382.5(COG8):c.240C>T (p.Arg80=)	COG8, LOC130059306	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1913192	NM_032382.5(COG8):c.645A>G (p.Gln215=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1909704	NM_032382.5(COG8):c.192G>T (p.Glu64Asp)	COG8 (E64D)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1806172	NM_032382.5(COG8):c.1643T>C (p.Ile548Thr)	COG8 (I548T +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1806165	NM_032382.5(COG8):c.888_890del (p.Glu296del)	COG8 (E296del)	Deletion (inframe_deletion)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1659781	NM_032382.5(COG8):c.147C>T (p.Tyr49=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1640392	NM_032382.5(COG8):c.558G>A (p.Arg186=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1632306	NM_032382.5(COG8):c.1666C>T (p.Leu556=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1614237	NM_032382.5(COG8):c.1443C>T (p.Arg481=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1602428	NM_032382.5(COG8):c.979C>T (p.Leu327=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1583908	NM_032382.5(COG8):c.825C>T (p.Ile275=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1568186	NM_032382.5(COG8):c.1398A>G (p.Glu466=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1545023	NM_032382.5(COG8):c.1488C>A (p.Val496=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1516557	NM_032382.5(COG8):c.1018G>A (p.Gly340Ser)	COG8 (G340S)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1515175	NM_032382.5(COG8):c.377+14G>A	COG8	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1507365	NM_032382.5(COG8):c.1340A>G (p.Asn447Ser)	COG8 (N447S)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1499230	NM_032382.5(COG8):c.698G>A (p.Arg233Gln)	COG8 (R233Q)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1492777	NM_032382.5(COG8):c.997G>A (p.Asp333Asn)	COG8 (D333N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1478090	NM_032382.5(COG8):c.919C>T (p.His307Tyr)	COG8 (H307Y)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1473717	NM_032382.5(COG8):c.673T>G (p.Cys225Gly)	COG8 (C225G)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1451058	NM_032382.5(COG8):c.1128C>G (p.Ile376Met)	COG8 (I376M)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1449448	NM_032382.5(COG8):c.700C>T (p.Arg234Cys)	COG8 (R234C)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1438816	NM_032382.5(COG8):c.380A>G (p.Asn127Ser)	COG8 (N127S)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1428295	NM_032382.5(COG8):c.440A>G (p.Asn147Ser)	COG8 (N147S)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1421986	NM_032382.5(COG8):c.1715C>A (p.Pro572His)	COG8, LOC130059304 (P572H +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1414165	NM_032382.5(COG8):c.416G>A (p.Arg139His)	COG8 (R139H)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1404722	NM_032382.5(COG8):c.914G>A (p.Gly305Asp)	COG8 (G305D)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1399155	NM_032382.5(COG8):c.663G>C (p.Gln221His)	COG8 (Q221H)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1386820	NM_032382.5(COG8):c.766C>G (p.Arg256Gly)	COG8 (R256G)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1384072	NM_032382.5(COG8):c.1549C>G (p.Leu517Val)	COG8 (L517V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1364564	NM_032382.5(COG8):c.697C>T (p.Arg233Trp)	COG8 (R233W)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1355215	NM_032382.5(COG8):c.1793G>A (p.Gly598Glu)	COG8, LOC130059304 (G598E +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1112022	NM_032382.5(COG8):c.1473G>A (p.Glu491=)	COG8	Single nucleotide variant (synonymous variant +1 more)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 1098272	NM_032382.5(COG8):c.*26+5G>C	COG8, LOC130059304	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1098271	NM_032382.5(COG8):c.1550_1556del (p.Leu517fs)	COG8 (L517fs)	Deletion (frameshift variant +1 more)	COG8-congenital disorder of glycosylation	GPathogenic
Select item 1060995	NM_032382.5(COG8):c.19A>G (p.Ile7Val)	COG8 (I7V)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1054626	NM_032382.5(COG8):c.1348C>T (p.Arg450Cys)	COG8 (R450C)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1051538	NM_032382.5(COG8):c.741T>G (p.Phe247Leu)	COG8 (F247L)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1040489	NM_032382.5(COG8):c.1468G>T (p.Gly490Trp)	COG8 (G490W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1038425	NM_032382.5(COG8):c.1755G>C (p.Glu585Asp)	COG8, LOC130059304 (E632D +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1032955	NM_032382.5(COG8):c.1807A>G (p.Thr603Ala)	COG8, LOC130059304 (T603A +2 more)	Single nucleotide variant (missense variant +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1032952	NM_032382.5(COG8):c.*26+543C>T	PDF, COG8 (Q101*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1030966	NM_032382.5(COG8):c.1208C>A (p.Pro403Gln)	COG8 (P403Q)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1006075	NM_032382.5(COG8):c.913G>T (p.Gly305Cys)	COG8 (G305C)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 1001596	NM_032382.5(COG8):c.1258C>T (p.Pro420Ser)	COG8 (P420S)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 967625	NM_032382.5(COG8):c.419G>A (p.Arg140Gln)	COG8 (R140Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 966979	NM_032382.5(COG8):c.1680_1681del (p.Glu560fs)	COG8, LOC130059304 (E607fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 932935	NM_032382.5(COG8):c.1583-1G>A	COG8 (G541S)	Single nucleotide variant (missense variant +2 more)	COG8-congenital disorder of glycosylation	GPathogenic
Select item 888436	NM_032382.4(COG8):c.-22A>C	COG8	Single nucleotide variant	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 888435	NM_032382.5(COG8):c.14C>T (p.Ala5Val)	COG8 (A5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 888434	NM_032382.5(COG8):c.308T>A (p.Leu103Gln)	COG8, LOC130059305 (L103Q)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 888377	NM_032382.5(COG8):c.*73G>A	COG8, PDF (W207*)	Single nucleotide variant (nonsense +1 more)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 888376	NM_032382.5(COG8):c.*402A>G	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 887182	NM_032382.5(COG8):c.731G>A (p.Arg244Lys)	COG8 (R244K)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 887112	NM_032382.5(COG8):c.*568G>T	COG8, PDF	Single nucleotide variant (3 prime UTR variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 886170	NM_032382.5(COG8):c.886G>A (p.Glu296Lys)	COG8 (E296K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886169	NM_032382.5(COG8):c.901C>T (p.Pro301Ser)	COG8 (P301S)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 886168	NM_032382.5(COG8):c.1093G>C (p.Gly365Arg)	COG8 (G365R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 885272	NM_032382.5(COG8):c.1413+12C>G	COG8	Single nucleotide variant (intron variant)	COG8-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 885271	NM_032382.5(COG8):c.1524G>A (p.Pro508=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 885270	NM_032382.5(COG8):c.1584C>G (p.Gly528=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 885269	NM_032382.5(COG8):c.1680G>A (p.Glu560=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 745758	NM_032382.5(COG8):c.1305C>T (p.Leu435=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 741695	NM_032382.5(COG8):c.894A>C (p.Pro298=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 724839	NM_032382.5(COG8):c.24A>G (p.Pro8=)	COG8	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 722079	NM_032382.5(COG8):c.309G>C (p.Leu103=)	COG8, LOC130059305	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 704609	NM_032382.5(COG8):c.307C>T (p.Leu103=)	COG8, LOC130059305	Single nucleotide variant (synonymous variant)	COG8-congenital disorder of glycosylation	GLikely benign
Select item 703456	NM_032382.5(COG8):c.578T>C (p.Val193Ala)	COG8 (V193A)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GBenign/Likely benign
Select item 703454	NM_032382.5(COG8):c.704T>C (p.Met235Thr)	COG8 (M235T)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GBenign/Likely benign
Select item 703036	NM_032382.5(COG8):c.386T>C (p.Val129Ala)	COG8 (V129A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 698124	NM_032382.5(COG8):c.1724C>T (p.Thr575Ile)	COG8, LOC130059304 (T575I)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GBenign/Likely benign
Select item 681421	NM_032382.5(COG8):c.1785C>T (p.Cys595=)	COG8, LOC130059304	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 659501	NM_032382.5(COG8):c.585+1G>T	COG8	Single nucleotide variant (splice donor variant)	COG8-congenital disorder of glycosylation	GLikely pathogenic
Select item 657168	NM_032382.5(COG8):c.1833dup (p.Pro612fs)	LOC130059304, COG8 (P612fs)	Duplication (frameshift variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 646893	NM_032382.5(COG8):c.151C>T (p.Arg51Trp)	COG8 (R51W)	Single nucleotide variant (missense variant)	COG8-congenital disorder of glycosylation	GUncertain significance
Select item 640089	NM_032382.5(COG8):c.1259C>T (p.Pro420Leu)	COG8 (P420L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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