ClinVar for MedGen (Select 78649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022559	NM_000027.4(AGA):c.699-11C>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3021277	NM_000027.4(AGA):c.471T>C (p.Asp157=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 3021024	NM_000027.4(AGA):c.507+11A>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3017759	NM_000027.4(AGA):c.394+14T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3017453	NM_000027.4(AGA):c.127+9T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3015565	NM_000027.4(AGA):c.807-8T>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3011586	NM_000027.4(AGA):c.807-11G>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3011212	NM_000027.4(AGA):c.395-14T>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3010635	NM_000027.4(AGA):c.394+20_394+21del	AGA	Deletion (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 3008158	NM_000027.4(AGA):c.687C>T (p.Phe229=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 3002670	NM_000027.4(AGA):c.501T>C (p.Tyr167=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 3000421	NM_000027.4(AGA):c.816T>C (p.Ala272=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2997340	NM_000027.4(AGA):c.128-18T>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2980205	NM_000027.4(AGA):c.127+14G>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2971866	NM_000027.4(AGA):c.699-17T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2970273	NM_000027.4(AGA):c.806+11T>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2970269	NM_000027.4(AGA):c.698+14A>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2955237	NM_000027.4(AGA):c.259C>T (p.Leu87=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2920518	NM_000027.4(AGA):c.426C>T (p.Ile142=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2917107	NM_000027.4(AGA):c.57C>G (p.Ala19=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2910125	NM_000027.4(AGA):c.508-16T>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2901205	NM_000027.4(AGA):c.168A>G (p.Ala56=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2901110	NM_000027.4(AGA):c.699-12A>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2900203	NM_000027.4(AGA):c.698+11C>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2900179	NM_000027.4(AGA):c.90C>G (p.Val30=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2894517	NM_000027.4(AGA):c.698+13A>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2893421	NM_000027.4(AGA):c.807-17A>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2892147	NM_000027.4(AGA):c.395-11C>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2885645	NM_000027.4(AGA):c.394+6T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GUncertain significance
Select item 2882438	NM_000027.4(AGA):c.127+11G>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2880619	NM_000027.4(AGA):c.698+19A>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2874615	NM_000027.4(AGA):c.395-12del	AGA	Deletion (intron variant)	Aspartylglucosaminuria	GBenign
Select item 2870779	NM_000027.4(AGA):c.948T>C (p.Ala316=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2866927	NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)	AGA	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 2864895	NM_000027.4(AGA):c.394+13C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2863570	NM_000027.4(AGA):c.611A>T (p.His204Leu)	AGA (H204L)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2862240	NM_000027.4(AGA):c.854C>G (p.Ala285Gly)	AGA (A275G +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2857605	NM_000027.4(AGA):c.453T>C (p.Ser151=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2855287	NM_000027.4(AGA):c.699-9C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2854198	NM_000027.4(AGA):c.904G>C (p.Gly302Arg)	AGA (G302R +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2844900	NM_000027.4(AGA):c.66C>T (p.Arg22=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2838065	NM_000027.4(AGA):c.394+18C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2836141	NM_000027.4(AGA):c.127+16C>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2835280	NM_000027.4(AGA):c.128-14G>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2830072	NM_000027.4(AGA):c.723T>G (p.Pro241=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2828999	NM_000027.4(AGA):c.941-20T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2825415	NM_000027.4(AGA):c.936T>C (p.Ser312=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2814331	NM_000027.4(AGA):c.45G>T (p.Leu15=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2814289	NM_000027.4(AGA):c.699-9C>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2798568	NM_000027.4(AGA):c.879C>T (p.Ile293=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2789790	NM_000027.4(AGA):c.127+15C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2789512	NM_000027.4(AGA):c.797dup (p.Leu267fs)	AGA (L267fs +1 more)	Duplication (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 2782898	NM_000027.4(AGA):c.582C>A (p.Ile194=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2765926	NM_000027.4(AGA):c.806+19T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2765105	NM_000027.4(AGA):c.870T>C (p.Ile290=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2764092	NM_000027.4(AGA):c.1038C>A (p.Ile346=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2763086	NM_000027.4(AGA):c.756G>T (p.Gly252=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2758521	NM_000027.4(AGA):c.774G>C (p.Gly258=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2758063	NM_000027.4(AGA):c.867G>C (p.Val289=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2757347	NM_000027.4(AGA):c.806+14G>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2756137	NM_000027.4(AGA):c.330T>C (p.Asn110=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2755283	NM_000027.4(AGA):c.508-16T>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2746921	NM_000027.4(AGA):c.72C>T (p.Ser24=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2746767	NM_000027.4(AGA):c.960T>G (p.Leu320=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2746757	NM_000027.4(AGA):c.940+13T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2746358	NM_000027.4(AGA):c.395-9A>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2743920	NM_000027.4(AGA):c.128-19A>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2741532	NM_000027.4(AGA):c.807-1G>A	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2740644	NM_000027.4(AGA):c.552A>G (p.Pro184=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2738662	NM_000027.4(AGA):c.508-18C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2738122	NM_000027.4(AGA):c.394+18C>G	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2738057	NM_000027.4(AGA):c.282-19G>A	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2733436	NM_000027.4(AGA):c.622+9_622+15dup	AGA	Duplication (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2725436	NM_000027.4(AGA):c.528A>G (p.Ser176=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2712924	NM_000027.4(AGA):c.127+12C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2711091	NM_000027.4(AGA):c.624C>T (p.Gly208=)	AGA	Single nucleotide variant (synonymous variant)	Aspartylglucosaminuria	GLikely benign
Select item 2710875	NM_000027.4(AGA):c.507+9A>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2710665	NM_000027.4(AGA):c.941-17C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2705308	NM_000027.4(AGA):c.623-17T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2703551	NM_000027.4(AGA):c.787T>C (p.Leu263=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2702898	NM_000027.4(AGA):c.395-5T>C	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2694995	NM_000027.4(AGA):c.699-11C>T	AGA	Single nucleotide variant (intron variant)	Aspartylglucosaminuria	GLikely benign
Select item 2693713	NM_000027.4(AGA):c.222C>T (p.Gly74=)	AGA	Single nucleotide variant (synonymous variant +1 more)	Aspartylglucosaminuria	GLikely benign
Select item 2680823	NM_000027.4(AGA):c.282-2A>G	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680811	NM_000027.4(AGA):c.200_201dup (p.Gln68fs)	AGA (Q68fs)	Microsatellite (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680806	NM_000027.4(AGA):c.735dup (p.Tyr246fs)	AGA (Y236fs +1 more)	Duplication (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680792	NM_000027.4(AGA):c.198_201del (p.Arg66fs)	AGA (R66fs)	Microsatellite (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic/Likely pathogenic
Select item 2680776	NM_000027.4(AGA):c.10A>T (p.Lys4Ter)	AGA (K4*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680772	NM_000027.4(AGA):c.389_390del (p.Glu130fs)	AGA (E130fs)	Microsatellite (frameshift variant +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 2680768	NM_000027.4(AGA):c.552del (p.Pro185fs)	AGA (P185fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680765	NM_000027.4(AGA):c.325A>T (p.Lys109Ter)	AGA (K109*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680761	NM_000027.4(AGA):c.941-1G>T	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680758	NM_000027.4(AGA):c.128-2A>C	AGA	Single nucleotide variant (splice acceptor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680754	NM_000027.4(AGA):c.595_596del (p.Glu199fs)	AGA (E199fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2680747	NM_000027.4(AGA):c.507+1G>C	AGA	Single nucleotide variant (splice donor variant)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2664009	NM_000027.4(AGA):c.722C>A (p.Pro241His)	AGA (P231H +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance
Select item 2506300	NM_000027.4(AGA):c.3G>A (p.Met1Ile)	AGA (M1I)	Single nucleotide variant (missense variant +2 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2503825	NM_000027.4(AGA):c.39del (p.Leu15fs)	AGA (L15fs)	Deletion (frameshift variant +1 more)	Aspartylglucosaminuria	GLikely pathogenic
Select item 2444302	NM_000027.4(AGA):c.52C>T (p.Gln18Ter)	AGA (Q18*)	Single nucleotide variant (nonsense +1 more)	Aspartylglucosaminuria	GPathogenic
Select item 2438916	NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)	AGA (C335R +1 more)	Single nucleotide variant (missense variant +1 more)	Aspartylglucosaminuria	GUncertain significance

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