ClinVar for MedGen (Select 462226) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 737

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3021865	NM_006348.5(COG5):c.906T>C (p.Asn302=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 3020984	NM_006348.5(COG5):c.315G>A (p.Thr105=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 3015006	NM_006348.5(COG5):c.585A>G (p.Glu195=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 3011447	NM_006348.5(COG5):c.2280G>C (p.Leu760=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 3010133	NM_006348.5(COG5):c.387T>C (p.Val129=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 3008689	NM_006348.5(COG5):c.1089A>G (p.Gln363=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 3007735	NM_006348.5(COG5):c.1686+10_1686+14del	COG5, LOC129389837	Deletion (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2995045	NM_006348.5(COG5):c.590A>T (p.Asp197Val)	COG5 (D197V)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2988547	NM_006348.5(COG5):c.670-4dup	COG5	Duplication (intron variant)	COG5-congenital disorder of glycosylation	GBenign
Select item 2981596	NM_006348.5(COG5):c.780C>A (p.Ile260=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2981503	NM_006348.5(COG5):c.417+8C>T	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2964816	NM_006348.5(COG5):c.234+9G>T	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2961625	NM_006348.5(COG5):c.24C>A (p.Val8=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2957188	NM_006348.5(COG5):c.24C>T (p.Val8=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2954879	NM_006348.5(COG5):c.1108+10C>G	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2920034	NM_006348.5(COG5):c.1750-3del	COG5	Deletion (intron variant)	COG5-congenital disorder of glycosylation	GBenign
Select item 2917058	NM_006348.5(COG5):c.2296-7C>T	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2912421	NM_006348.5(COG5):c.2112A>G (p.Pro704=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2904153	NM_006348.5(COG5):c.660G>A (p.Leu220=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2900584	NM_006348.3(COG5):c.66T>C (p.Ala22=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2900491	NM_006348.5(COG5):c.697C>T (p.Gln233Ter)	COG5 (Q233*)	Single nucleotide variant (nonsense +1 more)	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2889904	NM_006348.5(COG5):c.1476-4C>T	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2885692	NM_006348.5(COG5):c.2169-17_2169-16del	COG5	Deletion (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2884689	NM_006348.5(COG5):c.556A>G (p.Ile186Val)	COG5 (I186V)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2875595	NM_006348.5(COG5):c.293-11T>C	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2871747	NM_006348.5(COG5):c.235-20_235-18del	COG5	Deletion (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2869661	NM_006348.5(COG5):c.46C>T (p.Arg16Ter)	COG5 (R16*)	Single nucleotide variant (nonsense)	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2866126	NM_006348.5(COG5):c.747G>T (p.Val249=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2860482	NM_006348.5(COG5):c.30A>C (p.Val10=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2858633	NM_006348.5(COG5):c.417+15T>C	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2852926	NM_006348.5(COG5):c.1026+17A>G	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2851796	NM_006348.5(COG5):c.851C>G (p.Ser284Cys)	COG5 (S284C)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2848668	NM_006348.5(COG5):c.2214A>T (p.Ala738=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2842695	NM_006348.5(COG5):c.1014A>G (p.Glu338=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2841579	NM_006348.5(COG5):c.924T>C (p.Asp308=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2838566	NM_006348.5(COG5):c.2296-4G>T	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2835004	NM_006348.5(COG5):c.95-17T>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2834833	NM_006348.5(COG5):c.666T>C (p.Thr222=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2824125	NM_006348.5(COG5):c.1314-6C>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2817404	NM_006348.5(COG5):c.539-2A>G	COG5	Single nucleotide variant (intron variant +1 more)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 2817315	NM_006348.5(COG5):c.1581C>T (p.Ser527=)	COG5, LOC129389837	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2816641	NM_006348.5(COG5):c.1192C>T (p.Gln398Ter)	COG5 (Q160* +2 more)	Single nucleotide variant (nonsense)	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2815972	NM_006348.5(COG5):c.2202C>T (p.Ala734=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2811062	NM_006348.5(COG5):c.1575+13_1575+16del	COG5	Deletion (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2807896	NM_006348.5(COG5):c.2375+15T>C	COG5	Single nucleotide variant (intron variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2798847	NM_006348.5(COG5):c.42A>T (p.Gly14=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2796617	NM_006348.5(COG5):c.835+12G>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2793774	NM_006348.5(COG5):c.981G>A (p.Lys327=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2793015	NM_006348.5(COG5):c.24C>G (p.Val8=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2787068	NM_006348.5(COG5):c.1744C>G (p.Leu582Val)	COG5 (L582V +3 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2785913	NM_006348.5(COG5):c.1027-12T>C	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2784281	NM_006348.5(COG5):c.39C>T (p.Leu13=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2783421	NM_006348.5(COG5):c.2241C>T (p.Ile747=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2778639	NM_006348.5(COG5):c.1485T>C (p.Asn495=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2772620	NM_006348.5(COG5):c.2168+2T>A	COG5	Single nucleotide variant (splice donor variant +1 more)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 2769738	NM_006348.5(COG5):c.1566A>G (p.Ser522=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2766128	NM_006348.5(COG5):c.235-15A>G	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2763353	NM_006348.5(COG5):c.1239A>T (p.Thr413=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2763206	NM_006348.5(COG5):c.51C>T (p.Gly17=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2759520	NM_006348.5(COG5):c.592C>T (p.Leu198=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2756427	NM_006348.5(COG5):c.418-2A>C	COG5	Single nucleotide variant (intron variant +1 more)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 2752878	NM_006348.5(COG5):c.2375+12T>C	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2750344	NM_006348.5(COG5):c.2375+7C>T	COG5	Single nucleotide variant (3 prime UTR variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2749310	NM_006348.5(COG5):c.94+8G>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2749183	NM_006348.5(COG5):c.1686+20T>G	COG5, LOC129389837	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2747221	NM_006348.5(COG5):c.2259C>T (p.Phe753=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2747001	NM_006348.5(COG5):c.594A>C (p.Leu198=)	COG5	Single nucleotide variant (intron variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2746459	NM_006348.5(COG5):c.2151G>C (p.Arg717=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2743924	NM_006348.5(COG5):c.417+11A>T	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2733438	NM_006348.5(COG5):c.1108+11T>C	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2733006	NM_006348.3(COG5):c.57T>C (p.Arg19=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2730502	NM_006348.5(COG5):c.1341A>G (p.Leu447=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2726017	NM_006348.5(COG5):c.2295+20C>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2722378	NM_006348.5(COG5):c.2168+8C>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2720740	NM_006348.5(COG5):c.2115C>T (p.Phe705=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2717957	NM_006348.5(COG5):c.2196T>C (p.His732=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2702849	NM_006348.5(COG5):c.418-1G>T	COG5	Single nucleotide variant (splice acceptor variant +1 more)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 2697092	NM_006348.5(COG5):c.99T>C (p.Cys33=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2425581	NC_000007.13:g.(?_106876875)_(107013225_?)dup	COG5	Duplication	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2425580	NC_000007.13:g.(?_106843961)_(107053097_?)del	COG5	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2425579	NC_000007.13:g.(?_106921725)_(107167822_?)del	COG5, GPR22	Deletion	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2425578	NC_000007.13:g.(?_106921725)_(106924197_?)del	COG5	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2425577	NC_000007.13:g.(?_107188536)_(107204434_?)del	COG5, DUS4L	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2425576	NC_000007.13:g.(?_106964865)_(106964986_?)del	COG5	Deletion	COG5-congenital disorder of glycosylation	GPathogenic
Select item 2419410	NM_006348.5(COG5):c.2304G>C (p.Glu768Asp)	COG5 (E530D +6 more)	Single nucleotide variant (missense variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2416670	NM_006348.5(COG5):c.2361G>A (p.Arg787=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2416345	NM_006348.5(COG5):c.1196A>G (p.Tyr399Cys)	COG5 (Y161C +2 more)	Single nucleotide variant (missense variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2415020	NM_006348.5(COG5):c.347+6G>A	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2319342	NM_006348.5(COG5):c.320T>C (p.Ile107Thr)	COG5 (I107T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2200281	NM_006348.5(COG5):c.1686G>A (p.Lys562=)	COG5, LOC129389837	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2196832	NM_006348.5(COG5):c.2283A>G (p.Lys761=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2195399	NM_006348.5(COG5):c.1839A>G (p.Gln613=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2193747	NM_006348.5(COG5):c.1365A>G (p.Leu455=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2192457	NM_006348.5(COG5):c.676A>G (p.Thr226Ala)	COG5 (T226A)	Single nucleotide variant (intron variant +1 more)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2191930	NM_006348.5(COG5):c.1227A>G (p.Ala409=)	COG5	Single nucleotide variant (synonymous variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2188549	NM_006348.5(COG5):c.-8C>T	COG5	Single nucleotide variant (5 prime UTR variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2185957	NM_006348.5(COG5):c.538+5G>T	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GUncertain significance
Select item 2184602	NM_006348.5(COG5):c.1313_1313+5del	COG5	Deletion (splice donor variant)	COG5-congenital disorder of glycosylation	GLikely pathogenic
Select item 2183610	NM_006348.5(COG5):c.2092-17A>G	COG5	Single nucleotide variant (intron variant)	COG5-congenital disorder of glycosylation	GLikely benign
Select item 2178089	NM_006348.5(COG5):c.1911A>G (p.Leu637=)	COG5	Single nucleotide variant (synonymous variant +1 more)	COG5-congenital disorder of glycosylation	GLikely benign

<< First< Prev

Page of 8