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

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552170	NM_000481.4(AMT):c.1034-1dup	AMT	Duplication (splice acceptor variant)	not provided +1 more	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 +3 more	GPathogenic
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 256240	NM_000481.4(AMT):c.954G>A (p.Arg318=)	AMT	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia +2 more	GBenign
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 1261298	NM_000481.4(AMT):c.878-228dup	AMT	Duplication (intron variant)	not provided	GBenign
Select item 1222992	NM_000481.4(AMT):c.877+293dup	AMT	Duplication (intron variant)	not provided	GBenign
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 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 388539	NM_000481.4(AMT):c.401A>G (p.Asn134Ser)	AMT (N134S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 1185268	NM_000481.4(AMT):c.259-109T>G	AMT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294488	NM_000481.4(AMT):c.259-247G>C	AMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271985	NM_000481.4(AMT):c.258+161A>G	AMT	Single nucleotide variant (intron variant)	not provided	GBenign
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 388540	NM_000481.4(AMT):c.203C>T (p.Ser68Leu)	AMT (S68L)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
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 508506	NM_000481.4(AMT):c.91-9C>T	AMT	Single nucleotide variant (intron variant)	Non-ketotic hyperglycinemia +1 more	GConflicting classifications of pathogenicity
Select item 2151648	NM_000481.4(AMT):c.41G>A (p.Arg14His)	AMT, NICN1 (R14H)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 449697	NM_000481.4(AMT):c.16del (p.Ser6fs)	AMT, NICN1 (S6fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1700772	NC_000003.12:g.49422514T>C	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 1222991	NC_000003.12:g.49422917A>G	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1261102	NC_000003.12:g.49422974C>T	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 24