"Counsyl"[submitter] AND "NICN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

ClinVar