ClinVar for Gene (Select 440) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058644	NM_001673.5(ASNS):c.1030+6G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	ASNS-related condition	GLikely benign
Select item 3027102	NM_001673.5(ASNS):c.1288T>C (p.Leu430=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3022869	NM_001673.5(ASNS):c.597G>C (p.Val199=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3021122	NM_001673.5(ASNS):c.488-18_488-17insAACCTATTTTGA	ASNS, CZ1P-ASNS	Insertion (intron variant)	not provided	GLikely benign
Select item 3019391	NM_001673.5(ASNS):c.958G>T (p.Gly320Cys)	ASNS, CZ1P-ASNS (G299C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3015692	NM_001673.5(ASNS):c.1434G>A (p.Lys478=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3015568	NM_001673.5(ASNS):c.1632C>T (p.Ala544=)	CZ1P-ASNS, ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3014590	NM_001673.5(ASNS):c.1476+14A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010130	NM_001673.5(ASNS):c.1146T>C (p.Ser382=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3009102	NM_001673.5(ASNS):c.43del (p.Ser15fs)	ASNS, CZ1P-ASNS (S15fs)	Deletion (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 3008543	NM_001673.5(ASNS):c.1257A>G (p.Pro419=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3007593	NM_001673.5(ASNS):c.1477-12T>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006387	NM_001673.5(ASNS):c.1195T>C (p.Leu399=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3001247	NM_001673.5(ASNS):c.250-15C>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994795	NM_001673.5(ASNS):c.1560A>G (p.Gln520=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2986787	NM_001673.5(ASNS):c.776-16C>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984278	NM_001673.5(ASNS):c.498A>G (p.Thr166=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984101	NM_001673.5(ASNS):c.195G>A (p.Lys65=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2982892	NM_001673.5(ASNS):c.903+11dup	ASNS, CZ1P-ASNS	Duplication (intron variant)	not provided	GLikely benign
Select item 2981324	NM_001673.5(ASNS):c.1138-15T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2979412	NM_001673.5(ASNS):c.903+10T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976130	NM_001673.5(ASNS):c.318C>T (p.Asp106=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2974414	NM_001673.5(ASNS):c.775+17_775+19del	ASNS, CZ1P-ASNS	Deletion (intron variant)	not provided	GLikely benign
Select item 2973632	NM_001673.5(ASNS):c.1321-14T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971795	NM_001673.5(ASNS):c.249+18A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969414	NM_001673.5(ASNS):c.1477-11del	ASNS, CZ1P-ASNS	Deletion (intron variant)	not provided	GLikely benign
Select item 2967416	NM_001673.5(ASNS):c.258G>A (p.Gln86=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2966721	NM_001673.5(ASNS):c.1477-13C>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962531	NM_001673.5(ASNS):c.699C>T (p.Asn233=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2962440	NM_001673.5(ASNS):c.79dup (p.Arg27fs)	ASNS, CZ1P-ASNS (R27fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2957575	NM_001673.5(ASNS):c.1321-5G>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918898	NM_001673.5(ASNS):c.250-11C>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917686	NM_001673.5(ASNS):c.1321-13T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916363	NM_001673.5(ASNS):c.673+19C>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914291	NM_001673.5(ASNS):c.849C>T (p.Leu283=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2913929	NM_001673.5(ASNS):c.1551C>T (p.Tyr517=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2909162	NM_001673.5(ASNS):c.792C>T (p.Ser264=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906026	NM_001673.5(ASNS):c.673+14A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905724	NM_001673.5(ASNS):c.708G>A (p.Arg236=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2903444	NM_001673.5(ASNS):c.153G>T (p.Ala51=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2898682	NM_001673.5(ASNS):c.1031-25_1031-20del	ASNS, CZ1P-ASNS	Deletion (intron variant)	not provided	GLikely benign
Select item 2895686	NM_001673.5(ASNS):c.1248G>A (p.Leu416=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888300	NM_001673.5(ASNS):c.951T>A (p.Ser317=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2884403	NM_001673.5(ASNS):c.249+7A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884388	NM_001673.5(ASNS):c.1238+20T>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883844	NM_001673.5(ASNS):c.1477-12T>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882657	NM_001673.5(ASNS):c.249+11A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882432	NM_001673.5(ASNS):c.249+12G>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874957	NM_001673.5(ASNS):c.1365del (p.Asn456fs)	ASNS, CZ1P-ASNS (N456fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2865831	NM_001673.5(ASNS):c.1410C>T (p.Phe470=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864583	NM_001673.5(ASNS):c.3G>T (p.Met1Ile)	ASNS, CZ1P-ASNS (M1I)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GPathogenic
Select item 2864164	NM_001673.5(ASNS):c.1137+15G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863208	NM_001673.5(ASNS):c.1239-15C>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863007	NM_001673.5(ASNS):c.907del (p.Ala303fs)	ASNS, CZ1P-ASNS (A282fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2858848	NM_001673.5(ASNS):c.1238+19A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857918	NM_001673.5(ASNS):c.496dup (p.Thr166fs)	ASNS, CZ1P-ASNS (T166fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2856935	NM_001673.5(ASNS):c.1477-6T>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854133	NM_001673.5(ASNS):c.1239-15_1239-13del	CZ1P-ASNS, ASNS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2852381	NM_001673.5(ASNS):c.180del (p.Gln60fs)	ASNS, CZ1P-ASNS (Q60fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2851860	NM_001673.5(ASNS):c.1653G>T (p.Thr551=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848391	NM_001673.5(ASNS):c.904-20G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847050	NM_001673.5(ASNS):c.90T>C (p.Asp30=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2846241	NM_001673.5(ASNS):c.399_400del (p.Phe134fs)	ASNS, CZ1P-ASNS (F51fs +2 more)	Microsatellite (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2844970	NM_001673.5(ASNS):c.487+10A>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843780	NM_001673.5(ASNS):c.519del (p.Phe174_Leu175insTer)	ASNS, CZ1P-ASNS	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2842155	NM_001673.5(ASNS):c.663A>G (p.Lys221=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2840051	NM_001673.5(ASNS):c.1348G>C (p.Glu450Gln)	ASNS, CZ1P-ASNS (E450Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2837073	NM_001673.5(ASNS):c.1321-7A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836259	NM_001673.5(ASNS):c.1031-12C>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835386	NM_001673.5(ASNS):c.858dup (p.Ala287fs)	ASNS, CZ1P-ASNS (A266fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2835059	NM_001673.5(ASNS):c.1187_1190dup (p.Tyr398fs)	ASNS, CZ1P-ASNS (Y377fs +2 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2834161	NM_001673.5(ASNS):c.1069del (p.Asp357fs)	ASNS, CZ1P-ASNS (D274fs +2 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2833954	NM_001673.5(ASNS):c.1581A>C (p.Pro527=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2833402	NM_001673.5(ASNS):c.255A>G (p.Gln85=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2831234	NM_001673.5(ASNS):c.999T>A (p.Thr333=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2829257	NM_001673.5(ASNS):c.1031-17T>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828915	NM_001673.5(ASNS):c.1342C>T (p.Leu448=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2827976	NM_001673.5(ASNS):c.1239-17T>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827739	NM_001673.5(ASNS):c.1031-20A>G	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823801	NM_001673.5(ASNS):c.1474C>T (p.Gln492Ter)	ASNS, CZ1P-ASNS (Q471* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2823496	NM_001673.5(ASNS):c.1302A>G (p.Pro434=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821836	NM_001673.5(ASNS):c.43dup (p.Ser15fs)	ASNS, CZ1P-ASNS (S15fs)	Duplication (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2821456	NM_001673.5(ASNS):c.1527T>C (p.Thr509=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2821050	NM_001673.5(ASNS):c.747A>T (p.Thr249=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2820626	NM_001673.5(ASNS):c.576A>G (p.Pro192=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820586	NM_001673.5(ASNS):c.1581A>G (p.Pro527=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2819892	NM_001673.5(ASNS):c.1536C>T (p.Thr512=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2819427	NM_001673.5(ASNS):c.1239-8C>G	CZ1P-ASNS, ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818884	NM_001673.5(ASNS):c.598G>T (p.Glu200Ter)	ASNS, CZ1P-ASNS (E179* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2817925	NM_001673.5(ASNS):c.1320+19G>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813988	NM_001673.5(ASNS):c.282C>T (p.Thr94=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2813418	NM_001673.5(ASNS):c.904-1G>A	ASNS, CZ1P-ASNS	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2812407	NM_001673.5(ASNS):c.954G>A (p.Glu318=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811838	NM_001673.5(ASNS):c.1030+16A>C	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809282	NM_001673.5(ASNS):c.1318A>T (p.Lys440Ter)	ASNS, CZ1P-ASNS (K357* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2809085	NM_001673.5(ASNS):c.1206T>A (p.Val402=)	ASNS, CZ1P-ASNS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804557	NM_001673.5(ASNS):c.993G>A (p.Leu331=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2802812	NM_001673.5(ASNS):c.402C>T (p.Phe134=)	ASNS, CZ1P-ASNS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2798873	NM_001673.5(ASNS):c.673+16C>T	ASNS, CZ1P-ASNS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797420	NM_001673.5(ASNS):c.776-9del	ASNS, CZ1P-ASNS	Deletion (intron variant)	not provided	GBenign

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