ClinVar for MedGen (Select 155625) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023555	NM_000170.3(GLDC):c.1707+13C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3023534	NM_000481.4(AMT):c.472-11C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3023486	NM_000170.3(GLDC):c.906G>A (p.Leu302=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3022915	NM_000170.3(GLDC):c.1262-15T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3022776	NM_000170.3(GLDC):c.2315+10G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3022623	NM_000170.3(GLDC):c.1401+18T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3021743	NM_000170.3(GLDC):c.713+17G>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3021229	NM_000170.3(GLDC):c.1261+12A>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3019715	NM_000481.4(AMT):c.258+17C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3019137	NM_000481.4(AMT):c.878-19C>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3018758	NM_000170.3(GLDC):c.1262-16C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3018756	NM_000170.3(GLDC):c.918A>G (p.Gly306=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3018327	NM_000170.3(GLDC):c.312C>T (p.Pro104=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3017189	NM_000170.3(GLDC):c.1262-13C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3015570	NM_000170.3(GLDC):c.713+12G>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3014616	NM_000481.4(AMT):c.127C>T (p.Leu43=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3013792	NM_000170.3(GLDC):c.567G>A (p.Leu189=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3013718	NM_000170.3(GLDC):c.2202+17C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3013108	NM_000481.4(AMT):c.91-14C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3012068	NM_000170.3(GLDC):c.471-18C>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3008294	NM_000170.3(GLDC):c.636-12del	GLDC	Deletion (intron variant)	Non-ketotic hyperglycinemia	GBenign
Select item 3008019	NM_000170.3(GLDC):c.2601G>T (p.Thr867=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3007462	NM_000170.3(GLDC):c.1666-15A>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3006966	NM_000170.3(GLDC):c.255+12C>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3006240	NM_000170.3(GLDC):c.1829A>G (p.Gln610Arg)	GLDC (Q610R)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 3005887	NM_000481.4(AMT):c.471+19C>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3005147	NM_000170.3(GLDC):c.498T>G (p.Pro166=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3004992	NM_000481.4(AMT):c.339+18T>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3004637	NM_000481.4(AMT):c.550+16T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3004426	NM_000170.3(GLDC):c.1927-12T>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3004175	NM_000481.4(AMT):c.1034-19G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3003936	NM_000170.3(GLDC):c.1059-14T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3002910	NM_000170.3(GLDC):c.714-11T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3002366	NM_000170.3(GLDC):c.335-17C>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3002056	NM_000170.3(GLDC):c.405C>T (p.Gly135=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3002043	NM_000170.3(GLDC):c.1158C>A (p.Ala386=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3001121	NM_000170.3(GLDC):c.714-10G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3000409	NM_000170.3(GLDC):c.1482+20G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2999138	NM_000170.3(GLDC):c.1850+17T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2998572	NM_000170.3(GLDC):c.1368G>C (p.Arg456=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2996375	NM_000481.4(AMT):c.248A>C (p.His83Pro)	AMT (H83P)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 2996374	NM_000481.4(AMT):c.472-17G>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2995037	NM_000170.3(GLDC):c.2436C>T (p.Pro812=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2993058	NM_000170.3(GLDC):c.2919+7del	GLDC	Deletion (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2991612	NM_000170.3(GLDC):c.1851-14_1851-12del	GLDC	Microsatellite (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2990833	NM_000170.3(GLDC):c.2203-18C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2988437	NM_000481.4(AMT):c.471+10dup	AMT	Duplication (intron variant)	Non-ketotic hyperglycinemia	GBenign
Select item 2988176	NM_000170.3(GLDC):c.256-19C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2986311	NM_000170.3(GLDC):c.2457+12G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2982555	NM_000170.3(GLDC):c.646A>C (p.Arg216=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2981022	NM_000170.3(GLDC):c.256-13G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2980848	NM_000170.3(GLDC):c.334+17G>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2979270	NM_000170.3(GLDC):c.1401+17G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2975215	NM_000481.4(AMT):c.250_251del (p.Met84fs)	AMT (M84fs)	Microsatellite (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2971954	NM_000170.3(GLDC):c.1581-19C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2970135	NM_000170.3(GLDC):c.714-5T>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2969326	NM_000170.3(GLDC):c.2202+19C>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2966964	NM_000170.3(GLDC):c.471-12T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2965547	NM_000170.3(GLDC):c.1156-20T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2964908	NM_000481.4(AMT):c.471+9C>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2964126	NM_000170.3(GLDC):c.2052+10T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2963471	NM_000481.4(AMT):c.906C>T (p.Phe302=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2962956	NM_000170.3(GLDC):c.2574T>C (p.Tyr858=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2962342	NM_000170.3(GLDC):c.1261+14C>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2961995	NM_000481.4(AMT):c.693G>A (p.Val231=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2960463	NM_000170.3(GLDC):c.1621C>T (p.Leu541=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2958660	NM_000170.3(GLDC):c.1863A>T (p.Gly621=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2958592	NM_000170.3(GLDC):c.1059-6G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2955834	NM_000170.3(GLDC):c.1482+11T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2920570	NM_000481.4(AMT):c.697-17T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2919621	NM_000481.4(AMT):c.340-17C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2919584	NM_000170.3(GLDC):c.1058+16T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2919269	NM_000170.3(GLDC):c.1262-12T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2917553	NM_000170.3(GLDC):c.600G>T (p.Gly200=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2917444	NM_000170.3(GLDC):c.1665+11G>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2917217	NM_000170.3(GLDC):c.102C>T (p.Ser34=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2915948	NM_000481.4(AMT):c.471+20T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2915375	NM_000170.3(GLDC):c.255+12C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2915118	NM_000170.3(GLDC):c.1058+17T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2914915	NM_000170.3(GLDC):c.2868A>G (p.Thr956=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2914711	NM_000170.3(GLDC):c.2569+7A>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2913614	NM_000170.3(GLDC):c.78G>T (p.Ser26=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2913417	NM_000170.3(GLDC):c.2052+13T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2912348	NM_000481.4(AMT):c.217C>G (p.Arg73Gly)	AMT (R73G)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 2912244	NM_000170.3(GLDC):c.2315+16C>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2911423	NM_000170.3(GLDC):c.2919+18G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2911312	NM_000481.4(AMT):c.1009C>T (p.Leu337=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2911275	NM_000481.4(AMT):c.550+12G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2909949	NM_000170.3(GLDC):c.1666-6T>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2909228	NM_000170.3(GLDC):c.1926+12A>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2909176	NM_000170.3(GLDC):c.264T>G (p.Asp88Glu)	GLDC (D88E)	Single nucleotide variant (missense variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2909114	NM_000170.3(GLDC):c.636-12T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2908320	NM_000481.4(AMT):c.501C>G (p.Gly167=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2907788	NM_000170.3(GLDC):c.471-14T>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2906920	NM_000481.4(AMT):c.696+15G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2904400	NM_000170.3(GLDC):c.2457+14G>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2904270	NM_000170.3(GLDC):c.1416T>C (p.Leu472=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2903948	NM_000481.4(AMT):c.108A>G (p.Thr36=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2903777	NM_000170.3(GLDC):c.84G>A (p.Pro28=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2901645	NM_000481.4(AMT):c.697-20C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign

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