"Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 56241	NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)	AMT (A272fs +2 more)	Indel (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56240	NM_000481.4(AMT):c.970_972del (p.Met324del)	AMT (M268del +2 more)	Deletion (inframe_deletion +1 more)	Non-ketotic hyperglycinemia	GUncertain significance
Select item 56239	NM_000481.4(AMT):c.887G>A (p.Arg296His)	AMT (R240H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56238	NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)	AMT (Y169C +2 more)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56234	NM_000481.4(AMT):c.535del (p.Leu179fs)	AMT (L135fs +2 more)	Deletion (frameshift variant +1 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56233	NM_000481.4(AMT):c.471+2T>C	AMT	Single nucleotide variant (intron 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 56230	NM_000481.4(AMT):c.259-1G>C	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 56227	NM_000481.4(AMT):c.148del (p.Val50fs)	AMT (V50fs)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56226	NM_000481.4(AMT):c.139G>T (p.Gly47Trp)	AMT (G47W)	Single nucleotide variant (missense variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56237	NM_000481.4(AMT):c.63del (p.Leu22fs)	AMT, NICN1 (L22fs)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56236	NM_000481.4(AMT):c.61del (p.Ala21fs)	AMT, NICN1 (A21fs)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GLikely pathogenic
Select item 56235	NM_000481.4(AMT):c.59del (p.Pro20fs)	AMT, NICN1 (P20fs)	Deletion (frameshift variant +2 more)	Non-ketotic hyperglycinemia	GPathogenic
Select item 56225	NM_032316.3(NICN1):c.*2328C>T	AMT, NICN1	Single nucleotide variant (3 prime UTR variant)	Neurodevelopmental delay +1 more	GConflicting classifications of pathogenicity