"Counsyl"[submitter] AND "AMT"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553667	NM_000481.4(AMT):c.*86G>T	AMT	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 554761	NM_000481.4(AMT):c.1209del (p.Lys403fs)	AMT (K347fs +2 more)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 553002	NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs)	AMT (Y344fs +2 more)	Indel (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 551593	NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del)	AMT (Q385del +2 more)	Microsatellite (inframe_deletion +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 551610	NM_000481.4(AMT):c.1153C>T (p.Gln385Ter)	AMT (Q385* +2 more)	Single nucleotide variant (nonsense +2 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 554115	NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)	AMT (G363R +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 552170	NM_000481.4(AMT):c.1034-1dup	AMT	Duplication (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 554551	NM_000481.4(AMT):c.1033+2dup	AMT	Duplication (splice donor variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 551739	NM_000481.4(AMT):c.1033+2T>C	AMT	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GPathogenic
Select item 554261	NM_000481.4(AMT):c.982dup (p.Ala328fs)	AMT (A328fs +2 more)	Duplication (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 557221	NM_000481.4(AMT):c.982del (p.Ala328fs)	AMT (A272fs +2 more)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 11979	NM_000481.4(AMT):c.959G>A (p.Arg320His)	AMT (R320H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 556278	NM_000481.4(AMT):c.958C>T (p.Arg320Cys)	AMT (R320C +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 56239	NM_000481.4(AMT):c.887G>A (p.Arg296His)	AMT (R240H +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 552871	NM_000481.4(AMT):c.875del (p.Leu292fs)	AMT (L248fs +2 more)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 557993	NM_000481.4(AMT):c.849dup (p.Val284fs)	AMT (V240fs +2 more)	Duplication (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 11978	NM_000481.4(AMT):c.826G>C (p.Asp276His)	AMT (D276H +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 550886	NM_000481.4(AMT):c.794G>A (p.Arg265His)	AMT (R265H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556661	NM_000481.4(AMT):c.793C>T (p.Arg265Cys)	AMT (R265C +2 more)	Single nucleotide variant (missense variant +1 more)	Glycine encephalopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 551763	NM_000481.4(AMT):c.752C>G (p.Pro251Arg)	AMT (P251R +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 553314	NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup)	AMT	Duplication (inframe_insertion +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 555079	NM_000481.4(AMT):c.695_696+21del	AMT	Deletion (splice donor variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 550043	NM_000481.4(AMT):c.696+1G>A	AMT	Single nucleotide variant (splice donor variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 552860	NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	AMT (R222C +2 more)	Single nucleotide variant (missense variant +1 more)	Glycine encephalopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 11980	NM_000481.4(AMT):c.574C>T (p.Gln192Ter)	AMT (Q192* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 553783	NM_000481.4(AMT):c.555C>T (p.Pro185=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 558446	NM_000481.4(AMT):c.515T>C (p.Leu172Pro)	AMT (L172P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 557617	NM_000481.4(AMT):c.496C>T (p.Gln166Ter)	AMT (Q166* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 56233	NM_000481.4(AMT):c.471+2T>C	AMT	Single nucleotide variant (splice donor variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 430735	NM_000481.4(AMT):c.350C>T (p.Ser117Leu)	AMT (S117L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558045	NM_000481.4(AMT):c.348_349del (p.Ser117fs)	AMT (S61fs +1 more)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 557814	NM_000481.4(AMT):c.280C>T (p.Arg94Trp)	AMT (R94W +1 more)	Single nucleotide variant (missense variant +1 more)	Glycine encephalopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 554628	NM_000481.4(AMT):c.231G>A (p.Ser77=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GLikely benign
Select item 56229	NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	AMT (S77L)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy 1 +2 more	GPathogenic/Likely pathogenic
Select item 56228	NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	AMT (R73C)	Single nucleotide variant (missense variant +2 more)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 551285	NM_000481.4(AMT):c.212A>C (p.His71Pro)	AMT (H71P)	Single nucleotide variant (missense variant +2 more)	Glycine encephalopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 553319	NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)	AMT	Deletion (nonsense +2 more)	Glycine encephalopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 346036	NM_000481.4(AMT):c.153G>A (p.Ala51=)	AMT	Single nucleotide variant (synonymous variant +2 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 551785	NM_000481.4(AMT):c.144_148del (p.Lys48fs)	AMT (K48fs)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 346038	NM_000481.4(AMT):c.84C>T (p.Cys28=)	AMT, NICN1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556727	NM_000481.4(AMT):c.57_59dup (p.Pro20_Ala21insPro)	AMT, NICN1	Duplication (inframe_indel +3 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 552502	NM_000481.4(AMT):c.15_18del (p.Ser6fs)	AMT, NICN1 (S6fs)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 555489	NM_000481.4(AMT):c.-58C>T	NICN1, AMT	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 556243	NM_000481.3(AMT):c.-66A>G	NICN1, AMT	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 346039	NM_000481.4(AMT):c.-76G>C	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity

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Items: 45