ClinVar for Gene (Select 275) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 720

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370997	NM_000481.4(AMT):c.190A>C (p.Ser64Arg)	AMT (S64R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3340315	NM_000481.4(AMT):c.958C>G (p.Arg320Gly)	AMT (R264G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 3251505	NM_000481.4(AMT):c.954_958delinsAAGGT (p.Arg320Cys)	AMT (R264C +2 more)	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 3251293	NM_000481.4(AMT):c.140G>C (p.Gly47Ala)	AMT (G47A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3246872	NC_000003.11:g.(?_49454973)_(49456604_?)del	AMT	Deletion	Non-ketotic hyperglycinemia	GPathogenic
Select item 3246871	NC_000003.11:g.(?_49454973)_(49459947_?)del	AMT, NICN1	Deletion	Non-ketotic hyperglycinemia	GPathogenic
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 3239762	NM_000481.4(AMT):c.91-1G>T	AMT	Single nucleotide variant (intron variant +1 more)	Glycine encephalopathy 1	GLikely pathogenic
Select item 3239497	NM_000481.4(AMT):c.130del (p.Ala44fs)	AMT (A44fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3117026	NM_000481.4(AMT):c.1060C>T (p.Pro354Ser)	AMT (P310S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3023534	NM_000481.4(AMT):c.472-11C>T	AMT	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 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 3013108	NM_000481.4(AMT):c.91-14C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 3005887	NM_000481.4(AMT):c.471+19C>A	AMT	Single nucleotide variant (intron 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 3004175	NM_000481.4(AMT):c.1034-19G>A	AMT	Single nucleotide variant (intron 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 2988437	NM_000481.4(AMT):c.471+10dup	AMT	Duplication (intron variant)	Non-ketotic hyperglycinemia	GBenign
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 2964908	NM_000481.4(AMT):c.471+9C>G	AMT	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 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 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 2915948	NM_000481.4(AMT):c.471+20T>C	AMT	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 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 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 2906920	NM_000481.4(AMT):c.696+15G>A	AMT	Single nucleotide variant (intron 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 2901645	NM_000481.4(AMT):c.697-20C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2897767	NM_000481.4(AMT):c.90+12G>A	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2886323	NM_000481.4(AMT):c.878-12G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2885220	NM_000481.4(AMT):c.697-8T>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2884643	NM_000481.4(AMT):c.414C>T (p.Gly138=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2880255	NM_000481.4(AMT):c.551-4C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2878844	NM_000481.4(AMT):c.259-16T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2877862	NM_000481.4(AMT):c.786C>T (p.Asp262=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2860677	NM_000481.4(AMT):c.258+14G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2859684	NM_000481.4(AMT):c.1040T>C (p.Val347Ala)	AMT (V303A +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 2859185	NM_000481.4(AMT):c.714_724del (p.Gly239fs)	AMT (G183fs +2 more)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2855908	NM_000481.4(AMT):c.878-7T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2855510	NM_000481.4(AMT):c.697-18C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2854597	NM_000481.4(AMT):c.1079_1080del (p.Val360fs)	AMT (V316fs +2 more)	Microsatellite (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2853352	NM_000481.4(AMT):c.471+11T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2850416	NM_000481.4(AMT):c.340-18G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2848774	NM_000481.4(AMT):c.489T>G (p.Leu163=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2848550	NM_000481.4(AMT):c.696+9A>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2843476	NM_000481.4(AMT):c.345A>T (p.Thr115=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2840355	NM_000481.4(AMT):c.826G>A (p.Asp276Asn)	AMT (D220N +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 2835153	NM_000481.4(AMT):c.849T>A (p.Pro283=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2835070	NM_000481.4(AMT):c.1008C>T (p.Ile336=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2829709	NM_000481.4(AMT):c.696+20G>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2828062	NM_000481.4(AMT):c.471+10C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2828037	NM_000481.4(AMT):c.360C>T (p.Thr120=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2827955	NM_000481.4(AMT):c.697-2A>C	AMT	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 2827671	NM_000481.4(AMT):c.669T>A (p.Cys223Ter)	AMT (C179* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2827222	NM_000481.4(AMT):c.877+16A>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2825747	NM_000481.4(AMT):c.264_265dup (p.Ile89fs)	AMT (I89fs +1 more)	Duplication (frameshift variant +1 more)	Glycine encephalopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 2824433	NM_000481.4(AMT):c.597G>A (p.Leu199=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2822418	NM_000481.4(AMT):c.258+1G>A	AMT	Single nucleotide variant (intron variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 2821673	NM_000481.4(AMT):c.877+18T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2821319	NM_000481.4(AMT):c.550+9G>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2821318	NM_000481.4(AMT):c.550+10_550+15del	AMT	Deletion (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2817002	NM_000481.4(AMT):c.90+20T>C	AMT, NICN1	Single nucleotide variant (3 prime UTR variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2815496	NM_000481.4(AMT):c.771del (p.Leu258fs)	AMT (L258fs +2 more)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2815185	NM_000481.4(AMT):c.550+9G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2814884	NM_000481.4(AMT):c.877+17C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2814765	NM_000481.4(AMT):c.514C>T (p.Leu172=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2814137	NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)	AMT	Deletion (inframe_deletion +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2812992	NM_000481.4(AMT):c.339+15T>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2811651	NM_000481.4(AMT):c.765G>A (p.Leu255=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2809922	NM_000481.4(AMT):c.796C>T (p.Leu266=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2799453	NM_000481.4(AMT):c.877+9G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2797288	NM_000481.4(AMT):c.472-9G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2795778	NM_000481.4(AMT):c.21G>C (p.Val7=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2794966	NM_000481.4(AMT):c.306G>A (p.Val102=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2792106	NM_000481.4(AMT):c.1033+13G>C	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2789353	NM_000481.4(AMT):c.648T>C (p.Ser216=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2785694	NM_000481.4(AMT):c.258+13A>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2782496	NM_000481.4(AMT):c.551-15G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2776770	NM_000481.4(AMT):c.708G>C (p.Pro236=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2775771	NM_000481.4(AMT):c.501C>A (p.Gly167=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2773070	NM_000481.4(AMT):c.1034-11T>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2771313	NM_000481.4(AMT):c.258+8del	AMT	Deletion (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2767434	NM_000481.4(AMT):c.1040dup (p.Thr348fs)	AMT (T348fs +2 more)	Duplication (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2765422	NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)	AMT (E324* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 2765202	NM_000481.4(AMT):c.1033+17A>G	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2762354	NM_000481.4(AMT):c.423T>C (p.Tyr141=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2762299	NM_000481.4(AMT):c.228C>T (p.Cys76=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2759881	NM_000481.4(AMT):c.339+17C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2759062	NM_000481.4(AMT):c.696+10G>A	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2753835	NM_000481.4(AMT):c.878-11del	AMT	Deletion (intron variant)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2752810	NM_000481.4(AMT):c.624T>C (p.Ala208=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 2750492	NM_000481.4(AMT):c.878-7del	AMT	Deletion (intron variant)	Non-ketotic hyperglycinemia	GLikely benign

<< First< Prev

Page of 8