ClinVar for MedGen (Select 443955) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066316	NM_024740.2(ALG9):c.65_66insTC (p.Ala23fs)	ALG9, LOC130006752 (A23fs)	Insertion (frameshift variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 3065733	NM_024740.2(ALG9):c.430T>C (p.Cys144Arg)	ALG9 (C144R)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 3020167	NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3016621	NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3015300	NM_024740.2(ALG9):c.702-9_702-8del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3014577	NM_012463.4(ATP6V0A2):c.731+16A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3009969	NM_012463.4(ATP6V0A2):c.117+20C>G	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 3004981	NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)	ATP6V0A2 (E293*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 3000528	NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)	ALG9 (Y587C +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2996992	NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)	ALG9 (R469Q +6 more)	Single nucleotide variant (missense variant +1 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2994599	NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)	ATP6V0A2 (S520G)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2991081	NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)	ATP6V0A2 (D768fs)	Deletion (frameshift variant)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2988826	NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2985026	NM_012463.4(ATP6V0A2):c.2465+20T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2984348	NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2983282	NM_012463.4(ATP6V0A2):c.1725-9C>T	ATP6V0A2, LOC126861666	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2981000	NM_024740.2(ALG9):c.131+10C>T	ALG9, LOC130006752	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2977425	NM_024740.2(ALG9):c.131+7G>C	ALG9, LOC130006752	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2973119	NM_012463.4(ATP6V0A2):c.117+19A>G	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2970105	NM_012463.4(ATP6V0A2):c.294+16C>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2920131	NM_012463.4(ATP6V0A2):c.2466-3del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2918761	NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2916784	NM_012463.4(ATP6V0A2):c.731+12A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2916064	NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2913216	NM_012463.4(ATP6V0A2):c.2055+9G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2912514	NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2911117	NM_024740.2(ALG9):c.1734-17del	ALG9	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2911105	NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)	ATP6V0A2 (R340Q)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2910670	NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)	ATP6V0A2 (S752F)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2909918	NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2909003	NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2906281	NM_012463.4(ATP6V0A2):c.1515-7_1515-5del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2903855	NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2902306	NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation +1 more	GLikely benign
Select item 2899307	NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2896520	NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2890919	NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)	ATP6V0A2, LOC130009117	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2885556	NM_012463.4(ATP6V0A2):c.2466-16C>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2883184	NM_012463.4(ATP6V0A2):c.2056-2A>G	ATP6V0A2	Single nucleotide variant (splice acceptor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2883144	NM_024740.2(ALG9):c.294A>G (p.Glu98=)	ALG9	Single nucleotide variant (synonymous variant +2 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2879875	NM_024740.2(ALG9):c.132-20T>G	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2877447	NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2872401	NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)	ATP6V0A2 (T464S)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2869658	NM_024740.2(ALG9):c.271-10G>A	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2868537	NM_012463.4(ATP6V0A2):c.826-18C>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2857018	NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2855875	NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2848963	NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2843216	NM_012463.4(ATP6V0A2):c.117+10G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ATP6V0A2-related condition +1 more	GLikely benign
Select item 2842557	NM_012463.4(ATP6V0A2):c.649-15A>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2840813	NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)	ATP6V0A2 (L665*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2838924	NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)	ATP6V0A2 (I126fs)	Deletion (frameshift variant)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2829656	NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)	ATP6V0A2	Deletion (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2825579	NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2820997	NM_024740.2(ALG9):c.846C>T (p.Leu282=)	ALG9	Single nucleotide variant (synonymous variant +1 more)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2813479	NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)	ATP6V0A2 (P535fs)	Deletion (frameshift variant)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2813439	NM_012463.4(ATP6V0A2):c.1724+11A>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2812484	NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2808753	NM_012463.4(ATP6V0A2):c.433-5T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2806222	NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2802601	NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2798204	NM_024740.2(ALG9):c.1324+10C>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2792445	NM_012463.4(ATP6V0A2):c.294+17G>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2789345	NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)	ATP6V0A2 (W222*)	Single nucleotide variant (nonsense)	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2788235	NM_024740.2(ALG9):c.405+9A>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2788189	NM_012463.4(ATP6V0A2):c.1039-15T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2785704	NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2783344	NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)	ATP6V0A2, LOC126861666	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2781620	NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2776451	NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2771788	NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)	ATP6V0A2, LOC126861666 (F633L)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2771040	NM_012463.4(ATP6V0A2):c.1515-9T>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2761550	NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)	ATP6V0A2 (N431D)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2761230	NM_012463.4(ATP6V0A2):c.118-6del	ATP6V0A2	Deletion (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2761229	NM_012463.4(ATP6V0A2):c.118-4T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2746655	NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2742433	NM_012463.4(ATP6V0A2):c.197-14T>A	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2740713	NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)	ATP6V0A2 (A397P)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2735988	NM_012463.4(ATP6V0A2):c.117+1del	ATP6V0A2, LOC130009117	Deletion (splice donor variant)	ALG9 congenital disorder of glycosylation	GLikely pathogenic
Select item 2732697	NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2729125	NM_012463.4(ATP6V0A2):c.1605+10C>T	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2725458	NM_012463.4(ATP6V0A2):c.1724+20dup	ATP6V0A2	Duplication (intron variant)	ALG9 congenital disorder of glycosylation	GBenign
Select item 2723697	NM_012463.4(ATP6V0A2):c.117+7G>A	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2714965	NM_012463.4(ATP6V0A2):c.117+13C>T	ATP6V0A2, LOC130009117	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2712023	NM_012463.4(ATP6V0A2):c.2056-10T>C	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2707914	NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2707653	NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)	ATP6V0A2 (R298H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2707187	NM_024740.2(ALG9):c.270+17G>C	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2695276	NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)	ATP6V0A2 (F138S)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2684366	NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441642	NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)	ALG9 (Y110C +2 more)	Single nucleotide variant (missense variant +2 more)	Gillessen-Kaesbach-Nishimura syndrome +1 more	GUncertain significance
Select item 2426878	NC_000011.9:g.(?_111657121)_(111922093_?)del	ALG9, C11orf52 +6 more	Deletion	ALG9 congenital disorder of glycosylation	GPathogenic
Select item 2421936	NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2421147	NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)	ATP6V0A2 (Y128H)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2418072	NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ATP6V0A2-related condition +1 more	GLikely benign
Select item 2415964	NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2413467	NM_012463.4(ATP6V0A2):c.2466-10T>G	ATP6V0A2	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign
Select item 2413262	NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)	ALG9 (A366T +6 more)	Single nucleotide variant (missense variant +2 more)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2201111	NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)	ATP6V0A2 (E186G)	Single nucleotide variant (missense variant)	ALG9 congenital disorder of glycosylation	GUncertain significance
Select item 2199419	NM_024740.2(ALG9):c.1174-5A>T	ALG9	Single nucleotide variant (intron variant)	ALG9 congenital disorder of glycosylation	GLikely benign

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