ClinVar for MedGen (Select 443957) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243069	NC_000017.10:g.(?_71195984)_(71199305_?)del	COG1	Deletion	COG1 congenital disorder of glycosylation	GPathogenic
Select item 3024024	NM_018714.3(COG1):c.2862C>T (p.Phe954=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3021661	NM_018714.3(COG1):c.1282-15C>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3018698	NM_018714.3(COG1):c.914-8C>G	COG1, LOC126862634	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3017593	NM_018714.3(COG1):c.743-4T>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3015603	NM_018714.3(COG1):c.2928T>C (p.Ser976=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3002816	NM_018714.3(COG1):c.1137C>T (p.Leu379=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 3001924	NM_018714.3(COG1):c.1578G>A (p.Lys526=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2994332	NM_018714.3(COG1):c.316-9C>T	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2991293	NM_018714.3(COG1):c.2361C>G (p.Leu787=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2985761	NM_018714.3(COG1):c.204G>A (p.Gln68=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2981719	NM_018714.3(COG1):c.2484G>A (p.Lys828=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2978235	NM_018714.3(COG1):c.560+16G>A	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2956499	NM_018714.3(COG1):c.1530C>T (p.Ile510=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2918389	NM_018714.3(COG1):c.426C>T (p.His142=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2918043	NM_018714.3(COG1):c.316-6C>T	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2913832	NM_018714.3(COG1):c.2817G>A (p.Pro939=)	COG1, VCF1	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2913781	NM_018714.3(COG1):c.987C>T (p.Val329=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2911593	NM_018714.3(COG1):c.573G>T (p.Leu191=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2907187	NM_018714.3(COG1):c.2574G>A (p.Thr858=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2890689	NM_018714.3(COG1):c.913+9T>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2890036	NM_018714.3(COG1):c.2220+14A>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2870715	NM_018714.3(COG1):c.599G>C (p.Cys200Ser)	COG1 (C200S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2862305	NM_018714.3(COG1):c.2199C>G (p.Ser733=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2824315	NM_018714.3(COG1):c.1206A>G (p.Leu402=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2809614	NM_018714.3(COG1):c.2825C>T (p.Ser942Phe)	COG1, VCF1 (S942F)	Single nucleotide variant (3 prime UTR variant +1 more)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2805911	NM_018714.3(COG1):c.1091del (p.Asn364fs)	COG1, LOC126862634 (N364fs)	Deletion (frameshift variant)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 2802847	NM_018714.3(COG1):c.2562G>A (p.Leu854=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2795862	NM_018714.3(COG1):c.1149G>A (p.Arg383=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2759254	NM_018714.3(COG1):c.1605C>T (p.Tyr535=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2749486	NM_018714.3(COG1):c.552C>T (p.Ser184=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2731766	NM_018714.3(COG1):c.1680C>T (p.Tyr560=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2729617	NM_018714.3(COG1):c.315+18C>T	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2728574	NM_018714.3(COG1):c.2225C>A (p.Ser742Tyr)	COG1, LOC125316790 (S742Y)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2712021	NM_018714.3(COG1):c.2383-10T>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2710775	NM_018714.3(COG1):c.560+8G>A	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2700410	NM_018714.3(COG1):c.117C>T (p.Ala39=)	COG1, LOC130061576	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2585042	NM_018714.3(COG1):c.218C>A (p.Ala73Asp)	COG1 (A73D)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2440183	NM_018714.3(COG1):c.1711C>T (p.Arg571Trp)	COG1 (R571W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2440182	NM_018714.3(COG1):c.559C>T (p.Arg187Trp)	COG1 (R187W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2420783	NM_018714.3(COG1):c.560G>A (p.Arg187Gln)	COG1 (R187Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2420748	NM_018714.3(COG1):c.1813A>G (p.Ser605Gly)	COG1 (S605G)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2417312	NM_018714.3(COG1):c.1288A>G (p.Thr430Ala)	COG1 (T430A)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2415564	NM_018714.3(COG1):c.327A>G (p.Pro109=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2413209	NM_018714.3(COG1):c.308C>T (p.Ala103Val)	COG1, LOC130061577 (A103V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2210711	NM_018714.3(COG1):c.1826A>C (p.His609Pro)	COG1 (H609P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2196494	NM_018714.3(COG1):c.2681A>G (p.Asn894Ser)	COG1 (N894S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2195938	NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)	COG1, LOC126862634 (R336*)	Single nucleotide variant (nonsense)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 2195233	NM_018714.3(COG1):c.2659G>A (p.Ala887Thr)	COG1 (A887T)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2191469	NM_018714.3(COG1):c.163C>T (p.Arg55Trp)	COG1, LOC130061576 (R55W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2191267	NM_018714.3(COG1):c.913G>A (p.Gly305Arg)	COG1 (G305R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2186615	NM_018714.3(COG1):c.514C>T (p.Arg172Trp)	COG1 (R172W)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2185637	NM_018714.3(COG1):c.1140G>A (p.Ala380=)	COG1, LOC126862634	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2182935	NM_018714.3(COG1):c.2008G>A (p.Val670Ile)	COG1 (V670I)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2182393	NM_018714.3(COG1):c.2413C>G (p.Arg805Gly)	COG1 (R805G)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2180778	NM_018714.3(COG1):c.833_835del (p.Glu278del)	COG1 (E278del)	Deletion (inframe_deletion)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2176180	NM_018714.3(COG1):c.750T>C (p.Gly250=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2170074	NM_018714.3(COG1):c.2220+15T>C	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2159314	NM_018714.3(COG1):c.2676G>A (p.Thr892=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2157338	NM_018714.3(COG1):c.626C>T (p.Ala209Val)	COG1 (A209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2156852	NM_018714.3(COG1):c.1456G>A (p.Asp486Asn)	COG1 (D486N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2154011	NM_018714.3(COG1):c.1590T>G (p.Asp530Glu)	COG1 (D530E)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2146689	NM_018714.3(COG1):c.448T>A (p.Cys150Ser)	COG1 (C150S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2144918	NM_018714.3(COG1):c.2220+15T>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2144907	NM_018714.3(COG1):c.180C>G (p.Ile60Met)	COG1, LOC130061576 (I60M)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2142665	NM_018714.3(COG1):c.2392G>A (p.Ala798Thr)	COG1 (A798T)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2141535	NM_018714.3(COG1):c.2634G>A (p.Leu878=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2140781	NM_018714.3(COG1):c.2492G>A (p.Arg831Gln)	COG1 (R831Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2139606	NM_018714.3(COG1):c.2618C>T (p.Ser873Phe)	COG1 (S873F)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2122608	NM_018714.3(COG1):c.272G>T (p.Arg91Leu)	COG1, LOC130061577 (R91L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2117556	NM_018714.3(COG1):c.510C>T (p.Leu170=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2112177	NM_018714.3(COG1):c.2619+17A>T	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2105181	NM_018714.3(COG1):c.649C>G (p.Leu217Val)	COG1 (L217V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2104166	NM_018714.3(COG1):c.850C>T (p.Pro284Ser)	COG1 (P284S)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2102905	NM_018714.3(COG1):c.2747T>C (p.Leu916Pro)	COG1 (L916P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2098246	NM_018714.3(COG1):c.561-1G>A	COG1	Single nucleotide variant (splice acceptor variant)	COG1 congenital disorder of glycosylation	GLikely pathogenic
Select item 2096978	NM_018714.3(COG1):c.561-6T>G	COG1	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2092286	NM_018714.3(COG1):c.2486G>A (p.Ser829Asn)	COG1 (S829N)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2085667	NM_018714.3(COG1):c.2216C>T (p.Ala739Val)	COG1 (A739V)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2083504	NM_018714.3(COG1):c.1139C>T (p.Ala380Val)	COG1, LOC126862634 (A380V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2079078	NM_018714.3(COG1):c.561-11_561-9del	COG1	Microsatellite (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2070977	NM_018714.3(COG1):c.810T>C (p.His270=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2070551	NM_018714.3(COG1):c.2414G>A (p.Arg805Gln)	COG1 (R805Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2066407	NM_018714.3(COG1):c.403A>T (p.Met135Leu)	COG1 (M135L)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2059168	NM_018714.3(COG1):c.1183A>C (p.Thr395Pro)	COG1, LOC126862634 (T395P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2058619	NM_018714.3(COG1):c.1446C>G (p.Asp482Glu)	COG1 (D482E)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2055821	NM_018714.3(COG1):c.628G>A (p.Glu210Lys)	COG1 (E210K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2053473	NM_018714.3(COG1):c.1516A>G (p.Lys506Glu)	COG1 (K506E)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2052538	NM_018714.3(COG1):c.1980C>A (p.Ile660=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2047943	NM_018714.3(COG1):c.701G>A (p.Arg234Lys)	COG1 (R234K)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2047623	NM_018714.3(COG1):c.511T>C (p.Ser171Pro)	COG1 (S171P)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2044532	NM_018714.3(COG1):c.2525C>T (p.Thr842Ile)	COG1 (T842I)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance
Select item 2044273	NM_018714.3(COG1):c.2664C>T (p.Pro888=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2037246	NM_018714.3(COG1):c.423C>G (p.Leu141=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2032456	NM_018714.3(COG1):c.2124A>C (p.Ser708=)	COG1	Single nucleotide variant (synonymous variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2028309	NM_018714.3(COG1):c.254dup (p.Tyr86fs)	COG1 (Y86fs)	Duplication (frameshift variant)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 2027635	NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)	COG1 (Q896*)	Single nucleotide variant (nonsense)	COG1 congenital disorder of glycosylation	GPathogenic
Select item 2011076	NM_018714.3(COG1):c.315+9C>G	COG1, LOC130061577	Single nucleotide variant (intron variant)	COG1 congenital disorder of glycosylation	GLikely benign
Select item 2008992	NM_018714.3(COG1):c.1207T>C (p.Cys403Arg)	COG1, LOC126862634 (C403R)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2002871	NM_018714.3(COG1):c.2515G>C (p.Glu839Gln)	COG1 (E839Q)	Single nucleotide variant (missense variant)	COG1 congenital disorder of glycosylation	GUncertain significance

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