ClinVar for MedGen (Select 934760) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2920667	NM_019108.4(SMG9):c.1508G>C (p.Trp503Ser)	SMG9 (W503S)	Single nucleotide variant (missense variant)	Heart and brain malformation syndrome	GPathogenic
Select item 2691293	NC_000019.9:g.(?_44232134)_(44259115_?)del	SMG9	Deletion	Heart and brain malformation syndrome	GPathogenic
Select item 2585432	NM_019108.4(SMG9):c.490C>T (p.Pro164Ser)	SMG9 (P164S)	Single nucleotide variant (missense variant)	Heart and brain malformation syndrome	GUncertain significance
Select item 2436203	NM_019108.4(SMG9):c.611T>A (p.Val204Glu)	SMG9 (V204E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333142	NM_019108.4(SMG9):c.701+46T>C	SMG9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028630	NM_019108.4(SMG9):c.662T>C (p.Met221Thr)	SMG9 (M221T)	Single nucleotide variant (missense variant)	Heart and brain malformation syndrome	GUncertain significance
Select item 984562	NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter)	SMG9 (Q393*)	Single nucleotide variant (nonsense)	Heart and brain malformation syndrome +1 more	GPathogenic
Select item 712249	NM_019108.4(SMG9):c.1154G>A (p.Arg385Gln)	SMG9 (R385Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 224498	NM_019108.4(SMG9):c.701+4A>G	SMG9	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 224497	NM_019108.4(SMG9):c.520_521del (p.Pro174fs)	SMG9 (P174fs)	Deletion (frameshift variant)	Global developmental delay +3 more	GLikely pathogenic