ClinVar for MedGen (Select 120649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019271	NM_153006.3(NAGS):c.1097-16C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 3019014	NM_153006.3(NAGS):c.1308G>C (p.Leu436=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 3018909	NM_153006.3(NAGS):c.1097-20C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 3017469	NM_153006.3(NAGS):c.1452-12C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 3011336	NM_153006.3(NAGS):c.1451+20G>C	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 3007264	NM_153006.3(NAGS):c.702-20G>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 3006521	NM_153006.3(NAGS):c.402G>A (p.Ala134=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 3003349	NM_153006.3(NAGS):c.1097-12A>G	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 3001442	NM_153006.3(NAGS):c.513G>C (p.Pro171=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 3001124	NM_153006.3(NAGS):c.701+10C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2999732	NM_153006.3(NAGS):c.1268+17dup	NAGS	Duplication (intron variant)	Hyperammonemia, type III	GBenign
Select item 2991310	NM_153006.3(NAGS):c.1269-18G>C	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2988153	NM_153006.3(NAGS):c.816C>T (p.Leu272=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2984645	NM_153006.3(NAGS):c.852G>T (p.Ala284=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2983530	NM_153006.3(NAGS):c.63C>A (p.Gly21=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2968212	NM_153006.3(NAGS):c.801C>T (p.Arg267=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2962549	NM_153006.3(NAGS):c.1268+12G>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2962278	NM_153006.3(NAGS):c.45A>C (p.Val15=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2960648	NM_153006.3(NAGS):c.535dup (p.Ala179fs)	NAGS (A179fs)	Duplication (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2960379	NM_153006.3(NAGS):c.312G>A (p.Arg104=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2956987	NM_153006.3(NAGS):c.225C>T (p.Ala75=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2956869	NM_153006.3(NAGS):c.1557G>A (p.Lys519=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2920515	NM_153006.3(NAGS):c.1097-4C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2919258	NM_153006.3(NAGS):c.701+17C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2918409	NM_153006.3(NAGS):c.1269-15C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2918065	NM_153006.3(NAGS):c.1452-13T>G	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2915950	NM_153006.3(NAGS):c.915+14_915+16dup	NAGS	Duplication (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2911643	NM_153006.3(NAGS):c.198G>A (p.Ala66=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2911053	NM_153006.3(NAGS):c.1268+20A>C	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2905352	NM_153006.3(NAGS):c.174C>T (p.Pro58=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2901431	NM_153006.3(NAGS):c.336G>A (p.Gln112=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2900494	NM_153006.3(NAGS):c.702-14C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2899014	NM_153006.3(NAGS):c.1097-19C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2897528	NM_153006.3(NAGS):c.1323C>T (p.Tyr441=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2884859	NM_153006.3(NAGS):c.427-12dup	NAGS	Duplication (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2884487	NM_153006.3(NAGS):c.885C>T (p.Asn295=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2879221	NM_153006.3(NAGS):c.32G>A (p.Arg11Gln)	NAGS (R11Q)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2877332	NM_153006.3(NAGS):c.1008C>T (p.Ile336=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2870467	NM_153006.3(NAGS):c.720G>A (p.Ser240=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2866433	NM_153006.3(NAGS):c.1269-7G>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2863999	NM_153006.3(NAGS):c.998_1016del (p.Met333fs)	NAGS (M333fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2862818	NM_153006.3(NAGS):c.701+16G>C	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2861616	NM_153006.3(NAGS):c.92_119del (p.Leu31fs)	NAGS (L31fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2860172	NM_153006.3(NAGS):c.1380G>A (p.Leu460=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2859936	NM_153006.3(NAGS):c.342G>A (p.Gly114=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2857799	NM_153006.3(NAGS):c.1451+9T>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2856746	NM_153006.3(NAGS):c.915+2T>C	NAGS	Single nucleotide variant (splice donor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2849686	NM_153006.3(NAGS):c.562dup (p.Ser188fs)	NAGS (S188fs)	Duplication (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2847411	NM_153006.3(NAGS):c.1268+16C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2843084	NM_153006.3(NAGS):c.822C>T (p.Ser274=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2840352	NM_153006.3(NAGS):c.376C>T (p.Gln126Ter)	NAGS (Q126*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GPathogenic
Select item 2839699	NM_153006.3(NAGS):c.701+5_701+13dup	NAGS	Duplication (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2831025	NM_153006.3(NAGS):c.1097-11TCC[2]	NAGS	Microsatellite (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2827068	NM_153006.3(NAGS):c.141C>G (p.Arg47=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2825422	NM_153006.3(NAGS):c.561T>G (p.Leu187=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2817617	NM_153006.3(NAGS):c.339C>A (p.Cys113Ter)	NAGS (C113*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GPathogenic
Select item 2811213	NM_153006.3(NAGS):c.843G>A (p.Leu281=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2808884	NM_153006.3(NAGS):c.1260C>A (p.Val420=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2807925	NM_153006.3(NAGS):c.1096+14G>C	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2805969	NM_153006.3(NAGS):c.720G>T (p.Ser240=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2804962	NM_153006.3(NAGS):c.750G>A (p.Leu250=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2800259	NM_153006.3(NAGS):c.459C>A (p.Gly153=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2798022	NM_153006.3(NAGS):c.9G>T (p.Thr3=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2797907	NM_153006.3(NAGS):c.561T>A (p.Leu187=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2790676	NM_153006.3(NAGS):c.701+8C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2786007	NM_153006.3(NAGS):c.1452-9C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2782341	NM_153006.3(NAGS):c.54G>A (p.Arg18=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2776872	NM_153006.3(NAGS):c.426+13C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2771726	NM_153006.3(NAGS):c.204C>T (p.Asp68=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2770724	NM_153006.3(NAGS):c.693C>T (p.Pro231=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2769356	NM_153006.3(NAGS):c.399C>T (p.Ser133=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2769177	NM_153006.3(NAGS):c.870C>T (p.Ile290=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2767805	NM_153006.3(NAGS):c.427-4G>C	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2760244	NM_153006.3(NAGS):c.514C>T (p.Leu172=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2758395	NM_153006.3(NAGS):c.1451+16C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2758009	NM_153006.3(NAGS):c.141C>A (p.Arg47=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2756106	NM_153006.3(NAGS):c.75T>G (p.Thr25=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2751791	NM_153006.3(NAGS):c.522C>T (p.Val174=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2750057	NM_153006.3(NAGS):c.783C>T (p.Ile261=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2747754	NM_153006.3(NAGS):c.1503C>T (p.Phe501=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2744578	NM_153006.3(NAGS):c.1268+13A>G	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2743671	NM_153006.3(NAGS):c.426+17G>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2738974	NM_153006.3(NAGS):c.840G>T (p.Ser280=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2738970	NM_153006.3(NAGS):c.1451+13A>G	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2736427	NM_153006.3(NAGS):c.1269-11C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2734569	NM_153006.3(NAGS):c.1328del (p.Asp443fs)	NAGS (D443fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2733245	NM_153006.3(NAGS):c.1268+17C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2732995	NM_153006.3(NAGS):c.1452-15C>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2731701	NM_153006.3(NAGS):c.1272C>A (p.Tyr424Ter)	NAGS (Y424*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GPathogenic
Select item 2728579	NM_153006.3(NAGS):c.426+16C>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2723020	NM_153006.3(NAGS):c.706G>A (p.Gly236Ser)	NAGS (G236S)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2717558	NM_153006.3(NAGS):c.957G>A (p.Val319=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2715770	NM_153006.3(NAGS):c.360G>A (p.Ala120=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2714366	NM_153006.3(NAGS):c.24G>C (p.Val8=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2712593	NM_153006.3(NAGS):c.1302del (p.Val435fs)	NAGS (V435fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2711343	NM_153006.3(NAGS):c.343del (p.Ala115fs)	NAGS (A115fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GPathogenic
Select item 2707629	NM_153006.3(NAGS):c.252C>G (p.Pro84=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign
Select item 2706530	NM_153006.3(NAGS):c.1268+15C>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2703242	NM_153006.3(NAGS):c.1096+18G>T	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely benign
Select item 2700374	NM_153006.3(NAGS):c.490T>C (p.Leu164=)	NAGS	Single nucleotide variant (synonymous variant)	Hyperammonemia, type III	GLikely benign

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