C2675459[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18265	NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (Y164C +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18268	NM_000476.3(AK1):c.418GAC[1] (p.Asp141del)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (D141del +1 more)	Microsatellite (inframe_deletion)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18263	NM_000476.3(AK1):c.382C>T (p.Arg128Trp)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R128W +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18264	NM_000476.3(AK1):c.319C>T (p.Arg107Ter)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (R107* +1 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to adenylate kinase deficiency	GLikely pathogenic
Select item 18267	NM_000476.3(AK1):c.190G>A (p.Gly64Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G64R +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18269	NM_000476.3(AK1):c.139del (p.Val47fs)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (V47fs +1 more)	Deletion (frameshift variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic
Select item 18266	NM_000476.3(AK1):c.118G>A (p.Gly40Arg)	AK1, ST6GALNAC4-ST6GALNAC6-AK1 (G40R +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to adenylate kinase deficiency	GPathogenic