ClinVar for MedGen (Select 1680812) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500264	NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)	GLS (C424R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GLikely pathogenic
Select item 1806017	NM_014905.5(GLS):c.7C>T (p.Arg3Trp)	GLS (R3W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GUncertain significance
Select item 1526059	NM_014905.5(GLS):c.1460dup (p.Ile488fs)	GLS (I488fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 71	GPathogenic
Select item 1342649	NM_014905.5(GLS):c.704A>G (p.Tyr235Cys)	GLS (Y235C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GUncertain significance
Select item 618998	NM_014905.5(GLS):c.815G>A (p.Arg272Lys)	GLS (R272K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 71	GPathogenic
Select item 618997	NM_014905.5(GLS):c.241C>T (p.Gln81Ter)	GLS (Q81*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 71	GPathogenic
Select item 618996	NM_014905.5(GLS):c.695dup (p.Asp232fs)	GLS (D232fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 71	GPathogenic

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