"GeneDx"[submitter] AND "COG5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 1200986	NM_006348.5(COG5):c.2485C>T (p.Gln829Ter)	COG5 (Q591* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1391809	NM_006348.5(COG5):c.2473_2474del (p.Met825fs)	COG5 (M587fs +7 more)	Deletion (frameshift variant)	COG5-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 388637	NM_006348.5(COG5):c.2433A>T (p.Ala811=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation +1 more	GLikely benign
Select item 817509	NM_006348.5(COG5):c.2400_2403dup (p.Val802fs)	COG5 (V564fs +7 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1253248	NM_006348.5(COG5):c.2376-206A>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224050	NM_006348.5(COG5):c.2375+216A>C	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1237848	NM_006348.5(COG5):c.2375+33G>T	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1209351	NM_006348.5(COG5):c.2322C>A (p.Phe774Leu)	COG5 (F536L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1190352	NM_006348.5(COG5):c.2296-52A>G	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213076	NM_006348.5(COG5):c.2296-150C>T	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680921	NM_006348.5(COG5):c.2271C>T (p.Pro757=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1267729	NM_006348.5(COG5):c.2169-84A>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238633	NM_006348.5(COG5):c.2169-269T>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392393	NM_006348.5(COG5):c.2124A>G (p.Arg708=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1517538	NM_006348.5(COG5):c.2123G>A (p.Arg708Gln)	COG5 (R518Q +5 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1391960	NM_006348.5(COG5):c.2122C>T (p.Arg708Ter)	COG5 (R654* +5 more)	Single nucleotide variant (nonsense +1 more)	COG5-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 513801	NM_006348.5(COG5):c.2112A>T (p.Pro704=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1232181	NM_006348.5(COG5):c.2092-225del	COG5	Deletion (intron variant)	not provided	GBenign
Select item 1247500	NM_006348.5(COG5):c.2091+251A>C	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250561	NM_006348.5(COG5):c.2091+138dup	COG5	Duplication (intron variant)	not provided	GBenign
Select item 1203097	NM_006348.5(COG5):c.2091+148del	COG5	Deletion (intron variant)	not provided	GLikely benign
Select item 1320612	NM_006348.5(COG5):c.2091+52C>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681597	NM_006348.5(COG5):c.2088A>C (p.Ala696=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2064663	NM_006348.5(COG5):c.2068C>T (p.Arg690Ter)	COG5 (R632* +5 more)	Single nucleotide variant (nonsense +1 more)	COG5-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 1355247	NM_006348.5(COG5):c.2036T>C (p.Leu679Pro)	COG5 (L441P +5 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 358454	NM_006348.5(COG5):c.2023C>T (p.Arg675Cys)	COG5 (R706C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1273438	NM_006348.5(COG5):c.1854-82G>T	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268486	NM_006348.5(COG5):c.1854-84C>T	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254074	NM_006348.5(COG5):c.1854-336T>C	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274053	NM_006348.5(COG5):c.1853+247G>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 358456	NM_006348.5(COG5):c.1827C>T (p.Ile609=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation +2 more	GBenign
Select item 225317	NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)	COG5 (I640T +6 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 594960	NM_006348.5(COG5):c.1789C>T (p.Leu597Phe)	COG5 (L407F +5 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 358457	NM_006348.5(COG5):c.1776T>C (p.Ala592=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1305234	NM_006348.5(COG5):c.1766T>C (p.Met589Thr)	COG5 (M351T +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 382480	NM_006348.5(COG5):c.1750-14T>G	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1249092	NM_006348.5(COG5):c.1749+140G>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384850	NM_006348.5(COG5):c.1749+7G>A	COG5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 511276	NM_006348.5(COG5):c.1725G>A (p.Glu575=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358458	NM_006348.5(COG5):c.1689T>G (p.Val563=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1249006	NM_006348.5(COG5):c.1687-261A>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287007	NM_006348.5(COG5):c.1686+260A>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320611	NM_006348.5(COG5):c.1686+103del	COG5	Deletion (intron variant)	not provided	GBenign
Select item 1703301	NM_006348.5(COG5):c.1635A>T (p.Arg545Ser)	COG5, LOC129389837 (R307S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1300391	NM_006348.5(COG5):c.1576-68GA[14]	COG5, LOC129389837	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1261192	NM_006348.5(COG5):c.1576-68GA[15]	COG5, LOC129389837	Microsatellite (intron variant)	not provided	GBenign
Select item 1252818	NM_006348.5(COG5):c.1576-68GA[12]	COG5, LOC129389837	Microsatellite (intron variant)	not provided	GBenign
Select item 1270733	NM_006348.5(COG5):c.1576-68_1576-67insGTGA	COG5	Insertion (intron variant)	not provided	GBenign
Select item 1191071	NM_006348.5(COG5):c.1576-67A>T	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320689	NM_006348.5(COG5):c.1576-197T>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189870	NM_006348.5(COG5):c.1576-295G>A	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248723	NM_006348.5(COG5):c.1476-160A>T	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177709	NM_006348.5(COG5):c.1476-262T>C	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 502712	NM_006348.5(COG5):c.1416G>A (p.Pro472=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1220416	NM_006348.5(COG5):c.1343A>G (p.Gln448Arg)	COG5 (Q210R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1224859	NM_006348.5(COG5):c.1314-200_1314-199insAAAAAAAAAAAAAA	COG5	Insertion (intron variant)	not provided	GBenign
Select item 1211852	NM_006348.5(COG5):c.1314-200_1314-199insAAAAAAAAAAAAAAA	COG5	Insertion (intron variant)	not provided	GLikely benign
Select item 1237233	NM_006348.5(COG5):c.1313+167T>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704099	NM_006348.5(COG5):c.1313+150C>T	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 910495	NM_006348.5(COG5):c.1302G>T (p.Lys434Asn)	COG5 (K434N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 385425	NM_006348.5(COG5):c.1302G>A (p.Lys434=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation +1 more	GLikely benign
Select item 358460	NM_006348.5(COG5):c.1290C>A (p.Phe430Leu)	COG5 (F461L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 358461	NM_006348.5(COG5):c.1262A>G (p.His421Arg)	COG5 (H452R +3 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 358462	NM_006348.5(COG5):c.1257A>G (p.Leu419=)	COG5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 194075	NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys)	COG5 (Y447C +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 932933	NM_006348.5(COG5):c.1197C>A (p.Tyr399Ter)	COG5 (Y161* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1233301	NM_006348.5(COG5):c.1109-112G>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452719	NM_006348.5(COG5):c.1078C>G (p.Leu360Val)	COG5 (L391V +2 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1178116	NM_006348.5(COG5):c.1027-43T>C	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229751	NM_006348.5(COG5):c.1027-73G>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261693	NM_006348.5(COG5):c.1027-125G>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 358464	NM_006348.5(COG5):c.1000A>G (p.Ile334Val)	COG5 (I365V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 380060	NM_006348.5(COG5):c.949-18A>G	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation +2 more	GBenign
Select item 1320614	NM_006348.5(COG5):c.949-68C>T	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386287	NM_006348.5(COG5):c.927T>C (p.His309=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation +2 more	GLikely benign
Select item 95374	NM_006348.5(COG5):c.895T>C (p.Phe299Leu)	COG5 (F330L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 358465	NM_006348.5(COG5):c.876T>G (p.Thr292=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1200662	NM_006348.5(COG5):c.836-83G>T	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220724	NM_006348.5(COG5):c.836-312A>G	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 358467	NM_006348.5(COG5):c.795C>T (p.Asp265=)	COG5	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 358469	NM_006348.5(COG5):c.735T>A (p.Ile245=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 1242592	NM_006348.5(COG5):c.670-76A>C	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253735	NM_006348.5(COG5):c.670-178_670-177insTAAT	COG5	Insertion (intron variant)	not provided	GBenign
Select item 1294355	NM_006348.5(COG5):c.669+147_669+149del	COG5	Deletion (intron variant)	not provided	GBenign
Select item 1268153	NM_006348.5(COG5):c.669+27T>C	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186703	NM_006348.5(COG5):c.669+24T>A	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516397	NM_006348.5(COG5):c.669+18_669+19del	COG5	Deletion (intron variant)	COG5-congenital disorder of glycosylation +1 more	GBenign
Select item 1457759	NM_006348.5(COG5):c.613C>T (p.Arg205Ter)	COG5 (R205*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 380531	NM_006348.5(COG5):c.539-17G>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 1683934	NM_006348.5(COG5):c.539-70A>G	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182453	NM_006348.5(COG5):c.539-81del	COG5	Deletion (intron variant)	not provided	GBenign
Select item 1203225	NM_006348.5(COG5):c.538+127G>T	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270619	NM_006348.5(COG5):c.538+6dup	COG5	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1230740	NM_006348.5(COG5):c.538+20del	COG5	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 358472	NM_006348.5(COG5):c.451A>G (p.Ile151Val)	COG5 (I182V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1329559	NM_006348.5(COG5):c.418-79A>C	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250643	NM_006348.5(COG5):c.418-317C>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230278	NM_006348.5(COG5):c.417+204G>A	COG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1691184	NM_006348.5(COG5):c.417+21C>T	COG5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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