"GeneDx"[submitter] AND "COG2"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57820	GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3	AGT, ARV1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1232503	NM_007357.3(COG2):c.-104del	COG2	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1245452	NM_007357.3(COG2):c.72+67G>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285989	NM_007357.3(COG2):c.73-33T>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270031	NM_007357.3(COG2):c.234+270A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248042	NM_007357.3(COG2):c.235-264C>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227643	NM_007357.3(COG2):c.235-178A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242323	NM_007357.3(COG2):c.235-129A>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672165	NM_007357.3(COG2):c.264T>G (p.Leu88=)	COG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1318436	NM_007357.3(COG2):c.301-79G>A	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261980	NM_007357.3(COG2):c.301-12dup	COG2	Duplication (intron variant)	not provided	GBenign
Select item 1260127	NM_007357.3(COG2):c.382-235dup	COG2	Duplication (intron variant)	not provided	GBenign
Select item 1257292	NM_007357.3(COG2):c.594+243C>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264998	NM_007357.3(COG2):c.595-280A>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774284	NM_007357.3(COG2):c.708G>A (p.Thr236=)	COG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1231567	NM_007357.3(COG2):c.900-199C>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 478371	NM_007357.3(COG2):c.912T>A (p.Asn304Lys)	COG2 (N304K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1272248	NM_007357.3(COG2):c.1027-228A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165357	NM_007357.3(COG2):c.1036A>G (p.Ile346Val)	COG2 (I346V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1283824	NM_007357.3(COG2):c.1167-146_1167-145del	COG2	Deletion (intron variant)	not provided	GBenign
Select item 1237873	NM_007357.3(COG2):c.1167-145del	COG2	Deletion (intron variant)	not provided	GBenign
Select item 1178879	NM_007357.3(COG2):c.1228+110dup	COG2	Duplication (intron variant)	not provided	GBenign
Select item 1243579	NM_007357.3(COG2):c.1229-253G>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284125	NM_007357.3(COG2):c.1229-226G>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267123	NM_007357.3(COG2):c.1229-201G>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234035	NM_007357.3(COG2):c.1229-66_1229-62dup	COG2	Duplication (intron variant)	not provided	GBenign
Select item 1297911	NM_007357.3(COG2):c.1229-47del	COG2	Deletion (intron variant)	not provided	GBenign
Select item 1260571	NM_007357.3(COG2):c.1380+80T>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248804	NM_007357.3(COG2):c.1381-210C>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221266	NM_007357.3(COG2):c.1381-74G>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267279	NM_007357.3(COG2):c.1578+25C>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247100	NM_007357.3(COG2):c.1578+162C>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288571	NM_007357.3(COG2):c.1579-24A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269409	NM_007357.3(COG2):c.1651+58C>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775694	NM_007357.3(COG2):c.1765G>A (p.Val589Ile)	COG2 (V588I +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIq +1 more	GBenign/Likely benign
Select item 1245019	NM_007357.3(COG2):c.1794+273G>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225091	NM_007357.3(COG2):c.1794+319G>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282292	NM_007357.3(COG2):c.1795-333T>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266685	NM_007357.3(COG2):c.1795-313T>C	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272655	NM_007357.3(COG2):c.1795-260C>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233090	NM_007357.3(COG2):c.1795-115G>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282392	NM_007357.3(COG2):c.1934+43A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318104	NM_007357.3(COG2):c.2115+277A>G	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297856	NM_007357.3(COG2):c.2116-278A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262085	NM_007357.3(COG2):c.2116-273G>T	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238822	NM_007357.3(COG2):c.2116-165A>G	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707266	NM_007357.3(COG2):c.2116-59T>C	COG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177936	NM_007357.3(COG2):c.2116-51C>A	COG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164695	NM_007357.3(COG2):c.2217A>G (p.Ter739=)	COG2	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIq +1 more	GBenign
Select item 60111	GRCh38/hg38 1q42.2(chr1:230693760-230780212)x1	AGT, CAPN9 +3 more	Copy number loss	See cases	GPathogenic

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Items: 51