ClinVar for MedGen (Select 1782127) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068181	NM_018149.7(SMG8):c.1207G>T (p.Gly403Cys)	SMG8 (G403C)	Single nucleotide variant (missense variant)	Alzahrani-Kuwahara syndrome	GUncertain significance
Select item 2920707	NM_018149.7(SMG8):c.971dup (p.Asn324fs)	SMG8 (N324fs)	Duplication (frameshift variant)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2920699	NM_018149.7(SMG8):c.2435T>G (p.Leu812Ter)	SMG8 (L812*)	Single nucleotide variant (nonsense)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2637611	NM_018149.7(SMG8):c.1667dup (p.Tyr556Ter)	SMG8 (Y556*)	Duplication (nonsense)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2503804	NM_018149.7(SMG8):c.1534del (p.Gln512fs)	SMG8 (Q512fs)	Deletion (frameshift variant)	Alzahrani-Kuwahara syndrome	GLikely pathogenic
Select item 1064668	NM_018149.7(SMG8):c.623A>G (p.His208Arg)	SMG8 (H208R)	Single nucleotide variant (missense variant)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 1064667	NM_018149.7(SMG8):c.2515C>T (p.Arg839Ter)	SMG8 (R839*)	Single nucleotide variant (nonsense)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 1064666	NM_018149.7(SMG8):c.441dup (p.Val148fs)	SMG8 (V148fs)	Duplication (frameshift variant)	Alzahrani-Kuwahara syndrome	GPathogenic

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