"Baylor Genetics"[submitter] AND "AMT"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 962887	NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)	AMT	Deletion (nonsense +1 more)	Non-ketotic hyperglycinemia	GPathogenic
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 2676723	NM_000481.4(AMT):c.1063dup (p.Ser355fs)	AMT (S299fs +2 more)	Duplication (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 954185	NM_000481.4(AMT):c.1056del (p.Ser353fs)	AMT (S309fs +2 more)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
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 2676718	NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)	AMT	Duplication (nonsense +1 more)	Non-ketotic hyperglycinemia	GLikely 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 +2 more	GPathogenic
Select item 1285076	NM_000481.4(AMT):c.889C>T (p.Arg297Ter)	AMT (R241* +2 more)	Single nucleotide variant (nonsense +1 more)	Non-ketotic hyperglycinemia	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 11981	NM_000481.4(AMT):c.878-1G>A	AMT	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GPathogenic
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)	Non-ketotic hyperglycinemia +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)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 1028287	NM_000481.4(AMT):c.696G>A (p.Glu232=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 1028286	NM_000481.4(AMT):c.665G>T (p.Arg222Leu)	AMT (R178L +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 870896	NM_000481.4(AMT):c.665G>A (p.Arg222His)	AMT (R178H +2 more)	Single nucleotide variant (missense variant +1 more)	Glycine encephalopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 552860	NM_000481.4(AMT):c.664C>T (p.Arg222Cys)	AMT (R222C +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 1163247	NM_000481.4(AMT):c.657dup (p.Val220fs)	AMT (V164fs +2 more)	Duplication (frameshift variant +1 more)	Non-ketotic hyperglycinemia +1 more	GPathogenic/Likely pathogenic
Select item 531771	NM_000481.4(AMT):c.635T>C (p.Val212Ala)	AMT (V212A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
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	GPathogenic/Likely pathogenic
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 1972107	NM_000481.4(AMT):c.471+2_471+7del	AMT	Deletion (splice donor variant +1 more)	Non-ketotic hyperglycinemia	GLikely 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 56232	NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)	AMT	Deletion (inframe_deletion +2 more)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
Select item 56231	NM_000481.4(AMT):c.434A>T (p.Asn145Ile)	AMT (N145I +1 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 2676709	NM_000481.4(AMT):c.419dup (p.Tyr141fs)	AMT (Y141fs +1 more)	Duplication (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 430735	NM_000481.4(AMT):c.350C>T (p.Ser117Leu)	AMT (S117L +1 more)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 2441374	NM_000481.4(AMT):c.339+2T>C	AMT	Single nucleotide variant (splice donor variant)	Glycine encephalopathy 2 +1 more	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)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 2676715	NM_000481.4(AMT):c.259-2A>T	AMT	Single nucleotide variant (splice acceptor variant)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56229	NM_000481.4(AMT):c.230C>T (p.Ser77Leu)	AMT (S77L)	Single nucleotide variant (missense variant +2 more)	not provided +1 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 +2 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)	Non-ketotic hyperglycinemia	GConflicting classifications of pathogenicity
Select item 553319	NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)	AMT	Deletion (nonsense +2 more)	Non-ketotic hyperglycinemia	GPathogenic/Likely pathogenic
Select item 11975	NM_000481.4(AMT):c.139G>A (p.Gly47Arg)	AMT (G47R)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 2676707	NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)	AMT	Deletion (intron variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 1447287	NM_000481.4(AMT):c.46C>T (p.Gln16Ter)	AMT, NICN1 (Q16*)	Single nucleotide variant (nonsense +2 more)	Non-ketotic hyperglycinemia	GPathogenic
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 594847	NM_000481.4(AMT):c.14dup (p.Ser6fs)	AMT, NICN1 (S6fs)	Duplication (frameshift variant +2 more)	Non-ketotic hyperglycinemia +1 more	GPathogenic
Select item 56225	NM_032316.3(NICN1):c.*2328C>T	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic

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Items: 41