ClinVar for MedGen (Select 929221) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2917150	NM_015386.3(COG4):c.1608del (p.Gly537fs)	COG4 (G533fs +2 more)	Deletion (frameshift variant +1 more)	COG4-congenital disorder of glycosylation	GPathogenic
Select item 2896787	NM_015386.3(COG4):c.1064A>T (p.Glu355Val)	COG4 (E355V +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2881012	NM_015386.3(COG4):c.897G>T (p.Gly299=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2878526	NM_015386.3(COG4):c.484_485inv (p.Thr162Val)	COG4 (T20V +2 more)	Inversion (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2870841	NM_015386.3(COG4):c.2076G>T (p.Glu692Asp)	COG4 (E550D +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2858857	NM_015386.3(COG4):c.1839G>C (p.Thr613=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2790686	NM_015386.3(COG4):c.2106+4A>G	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2776512	NM_015386.3(COG4):c.310T>G (p.Phe104Val)	COG4 (F100V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2741045	NM_015386.3(COG4):c.369G>A (p.Lys123=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2731987	NM_015386.3(COG4):c.1720A>T (p.Thr574Ser)	COG4 (T549S +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2722743	NM_015386.3(COG4):c.510G>A (p.Lys170=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2721681	NM_015386.3(COG4):c.619T>C (p.Phe207Leu)	COG4 (F207L +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2700194	NM_015386.3(COG4):c.265C>A (p.Gln89Lys)	COG4 (Q85K +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2698609	NM_015386.3(COG4):c.1002+13A>G	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2646683	NM_015386.3(COG4):c.1051dup (p.Ile351fs)	COG4 (I209fs +2 more)	Duplication (frameshift variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2442053	NM_015386.3(COG4):c.793G>A (p.Asp265Asn)	COG4 (D123N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2202767	NM_015386.3(COG4):c.722A>G (p.Glu241Gly)	COG4 (E99G +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2199739	NM_015386.3(COG4):c.2293A>G (p.Thr765Ala)	COG4 (T740A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2197135	NM_015386.3(COG4):c.370-19G>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GBenign
Select item 2194546	NM_015386.3(COG4):c.172-11C>T	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2189413	NM_015386.3(COG4):c.1950C>T (p.Asp650=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2175299	NM_015386.3(COG4):c.625A>G (p.Ile209Val)	COG4 (I67V +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2168011	NM_015386.3(COG4):c.2029G>A (p.Asp677Asn)	COG4 (D535N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2105750	NM_015386.3(COG4):c.2236G>A (p.Val746Met)	COG4 (V604M +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2080674	NM_015386.3(COG4):c.2081T>C (p.Val694Ala)	COG4 (V694A +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2078957	NM_015386.3(COG4):c.68G>A (p.Gly23Glu)	COG4 (G19E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2073708	NM_015386.3(COG4):c.1647+13C>T	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2052380	NM_015386.3(COG4):c.397G>A (p.Ala133Thr)	COG4 (A133T +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 2038426	NM_015386.3(COG4):c.1663G>A (p.Val555Met)	COG4 (V413M +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2032204	NM_015386.3(COG4):c.327T>C (p.Ala109=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2031943	NM_015386.3(COG4):c.739-8T>C	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2030602	NM_015386.3(COG4):c.1978C>T (p.Leu660=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 2019486	NM_015386.3(COG4):c.2004+10G>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1984134	NM_015386.3(COG4):c.2282C>T (p.Thr761Met)	COG4 (T619M +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1977749	NM_015386.3(COG4):c.169G>A (p.Glu57Lys)	COG4 (E57K +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1967990	NM_015386.3(COG4):c.372C>T (p.Asn124=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1950532	NM_015386.3(COG4):c.2342G>A (p.Ser781Asn)	COG4 (S781N +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1658551	NM_015386.3(COG4):c.2107-18G>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1655511	NM_015386.3(COG4):c.2247C>A (p.Ile749=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-related disorder +2 more	GLikely benign
Select item 1602462	NM_015386.3(COG4):c.1481+12T>C	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1595804	NM_015386.3(COG4):c.1314+15G>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1590864	NM_015386.3(COG4):c.811A>G (p.Ile271Val)	COG4 (I129V +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1580117	NM_015386.3(COG4):c.1648-12C>T	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1575869	NM_015386.3(COG4):c.1648-9A>C	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1531354	NM_015386.3(COG4):c.172-14T>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1525324	NM_015386.3(COG4):c.863A>G (p.Glu288Gly)	COG4 (E284G +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1518423	NM_015386.3(COG4):c.544+1G>T	COG4	Single nucleotide variant (splice donor variant)	COG4-congenital disorder of glycosylation	GLikely pathogenic
Select item 1506850	NM_015386.3(COG4):c.233T>C (p.Met78Thr)	COG4 (M78T +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1506269	NM_015386.3(COG4):c.1816G>C (p.Asp606His)	COG4 (D464H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1492203	NM_015386.3(COG4):c.1875G>T (p.Gln625His)	COG4 (Q625H +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1484335	NM_015386.3(COG4):c.379T>C (p.Tyr127His)	COG4 (Y123H +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1470748	NM_015386.3(COG4):c.2358G>C (p.Arg786Ser)	COG4 (R644S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1454863	NM_015386.3(COG4):c.883G>T (p.Glu295Ter)	COG4 (E291* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	COG4-congenital disorder of glycosylation	GPathogenic
Select item 1435251	NM_015386.3(COG4):c.496T>G (p.Leu166Val)	COG4 (L162V +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1410285	NM_015386.3(COG4):c.1482-7C>G	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1404625	NM_015386.3(COG4):c.1202A>G (p.Gln401Arg)	COG4 (Q401R +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1402723	NM_015386.3(COG4):c.151G>C (p.Glu51Gln)	COG4 (E47Q +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1386569	NM_015386.3(COG4):c.1054G>A (p.Glu352Lys)	COG4 (E352K +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1383591	NM_015386.3(COG4):c.1464G>T (p.Glu488Asp)	COG4 (E484D +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1381173	NM_015386.3(COG4):c.1838C>T (p.Thr613Met)	COG4 (T613M +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1366494	NM_015386.3(COG4):c.1124G>A (p.Arg375His)	COG4 (R371H +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1366175	NM_015386.3(COG4):c.1624G>T (p.Asp542Tyr)	COG4 (D400Y +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1363796	NM_015386.3(COG4):c.2114G>C (p.Gly705Ala)	COG4 (G563A +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1360641	NM_015386.3(COG4):c.35C>T (p.Pro12Leu)	COG4 (P12L +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1356864	NM_015386.3(COG4):c.2104C>T (p.Arg702Trp)	COG4 (R560W +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1350313	NM_015386.3(COG4):c.349C>T (p.Arg117Cys)	COG4 (R117C +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1345892	NM_015386.3(COG4):c.593G>A (p.Arg198His)	COG4 (R194H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1341707	NM_015386.3(COG4):c.2026T>C (p.Tyr676His)	COG4 (Y534H +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type +1 more	GUncertain significance
Select item 1219310	NM_015386.3(COG4):c.1403G>A (p.Arg468Gln)	COG4 (R326Q +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1216055	NM_015386.3(COG4):c.1900G>A (p.Val634Ile)	COG4 (V492I +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1179913	NM_015386.3(COG4):c.1482-25T>C	COG4	Single nucleotide variant (intron variant)	Microcephalic osteodysplastic dysplasia, Saul-Wilson type +2 more	GBenign
Select item 1172782	NM_015386.3(COG4):c.1255G>T (p.Glu419Ter)	COG4 (E277* +2 more)	Single nucleotide variant (nonsense +1 more)	COG4-congenital disorder of glycosylation	GPathogenic
Select item 1172781	NM_015386.3(COG4):c.941G>A (p.Cys314Tyr)	COG4 (C172Y +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GLikely pathogenic
Select item 1141792	NM_015386.3(COG4):c.171+10C>A	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1128711	NM_015386.3(COG4):c.1536C>T (p.Asp512=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1111002	NM_015386.3(COG4):c.1711-10T>C	COG4	Single nucleotide variant (intron variant)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1106073	NM_015386.3(COG4):c.2268T>C (p.Asn756=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1104648	NM_015386.3(COG4):c.1632G>A (p.Ala544=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1079076	NM_015386.3(COG4):c.339C>T (p.Ser113=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1052132	NM_015386.3(COG4):c.751G>A (p.Ala251Thr)	COG4 (A109T +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1044537	NM_015386.3(COG4):c.1358G>T (p.Ser453Ile)	COG4 (S311I +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1035424	NM_015386.3(COG4):c.2041G>A (p.Gly681Ser)	COG4 (G539S +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1018070	NM_015386.3(COG4):c.1309A>G (p.Asn437Asp)	COG4 (N295D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1016153	NM_015386.3(COG4):c.2141C>G (p.Ser714Trp)	COG4 (S572W +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 1009485	NM_015386.3(COG4):c.1123C>T (p.Arg375Cys)	COG4 (R233C +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 1002699	NM_015386.3(COG4):c.1931A>G (p.Asn644Ser)	COG4 (N502S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 971970	NM_015386.3(COG4):c.369+1_369+2del	COG4	Deletion (splice donor variant)	COG4-congenital disorder of glycosylation	GLikely pathogenic
Select item 958429	NM_015386.3(COG4):c.83G>T (p.Arg28Leu)	COG4 (R24L +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 956806	NM_015386.3(COG4):c.1208G>A (p.Cys403Tyr)	COG4 (C399Y +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 931400	NM_015386.3(COG4):c.1542G>T (p.Gln514His)	COG4 (Q510H +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 915303	NM_015386.3(COG4):c.73G>T (p.Gly25Ter)	COG4 (G21* +1 more)	Single nucleotide variant (nonsense +2 more)	COG4-congenital disorder of glycosylation	GPathogenic
Select item 862921	NM_015386.3(COG4):c.599_600del (p.Lys200fs)	COG4 (K196fs +2 more)	Deletion (frameshift variant +1 more)	COG4-congenital disorder of glycosylation	GPathogenic
Select item 856164	NM_015386.3(COG4):c.1128C>A (p.Phe376Leu)	COG4 (F376L +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 854347	NM_015386.3(COG4):c.248G>A (p.Arg83Gln)	COG4 (R83Q +1 more)	Single nucleotide variant (missense variant +2 more)	COG4-congenital disorder of glycosylation	GUncertain significance
Select item 803270	NM_015386.3(COG4):c.1314+86A>C	COG4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 800159	NM_015386.3(COG4):c.2030A>G (p.Asp677Gly)	COG4 (D535G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 766560	NM_015386.3(COG4):c.123A>G (p.Thr41=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 765996	NM_015386.3(COG4):c.1839G>A (p.Thr613=)	COG4	Single nucleotide variant (synonymous variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 761055	NM_015386.3(COG4):c.1072C>A (p.Pro358Thr)	COG4 (P216T +2 more)	Single nucleotide variant (missense variant +1 more)	COG4-congenital disorder of glycosylation	GLikely benign
Select item 747438	NM_015386.3(COG4):c.150C>T (p.Tyr50=)	COG4	Single nucleotide variant (synonymous variant +2 more)	COG4-congenital disorder of glycosylation	GLikely benign

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