ClinVar for Gene (Select 2731) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100122	NM_000170.3(GLDC):c.763A>G (p.Ser255Gly)	GLDC (S255G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100120	NM_000170.3(GLDC):c.2770A>T (p.Ile924Phe)	GLDC (I924F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100118	NM_000170.3(GLDC):c.2095T>C (p.Tyr699His)	GLDC (Y699H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3100117	NM_000170.3(GLDC):c.1718G>T (p.Trp573Leu)	GLDC (W573L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067881	NM_000170.3(GLDC):c.865C>G (p.Leu289Val)	GLDC (L289V)	Single nucleotide variant (missense variant)	Glycine encephalopathy 1	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3030107	NM_000170.3(GLDC):c.1035T>A (p.Pro345=)	GLDC	Single nucleotide variant (synonymous variant)	GLDC-related disorder	GLikely benign
Select item 3023555	NM_000170.3(GLDC):c.1707+13C>T	GLDC	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 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 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 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 3005147	NM_000170.3(GLDC):c.498T>G (p.Pro166=)	GLDC	Single nucleotide variant (synonymous 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 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 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 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 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 2964126	NM_000170.3(GLDC):c.2052+10T>C	GLDC	Single nucleotide variant (intron variant)	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 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 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 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 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 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 2907788	NM_000170.3(GLDC):c.471-14T>G	GLDC	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 2903777	NM_000170.3(GLDC):c.84G>A (p.Pro28=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2901616	NM_000170.3(GLDC):c.1638_1655del (p.Ile546_Ser551del)	GLDC	Deletion (inframe_deletion)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2899335	NM_000170.3(GLDC):c.713+13A>T	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2899295	NM_000170.3(GLDC):c.470+17T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2897830	NM_000170.3(GLDC):c.334+10C>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2897782	NM_000170.3(GLDC):c.335-8A>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2897553	NM_000170.3(GLDC):c.1580+17T>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2896652	NM_000170.3(GLDC):c.255+18G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2895415	NM_000170.3(GLDC):c.255+17G>C	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2891764	NM_000170.3(GLDC):c.1722A>G (p.Lys574=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2891200	NM_000170.3(GLDC):c.309A>G (p.Arg103=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2890675	NM_000170.3(GLDC):c.681A>C (p.Pro227=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2890287	NM_000170.3(GLDC):c.2203-18C>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2888520	NM_000170.3(GLDC):c.334+12G>A	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2887756	NM_000170.3(GLDC):c.2838+19A>G	GLDC	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2884659	NM_000170.3(GLDC):c.2928G>A (p.Val976=)	GLDC	Single nucleotide variant (synonymous variant)	Non-ketotic hyperglycinemia	GLikely benign

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