ClinVar for MedGen (Select 1684253) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067934	NM_152268.4(PARS2):c.886C>T (p.Gln296Ter)	PARS2 (Q296*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 75	GLikely pathogenic
Select item 3065467	NM_152268.4(PARS2):c.287G>A (p.Arg96His)	PARS2 (R96H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 2228634	NM_152268.4(PARS2):c.294G>A (p.Met98Ile)	PARS2 (M98I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1698984	NM_152268.4(PARS2):c.874T>C (p.Cys292Arg)	PARS2 (C292R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GUncertain significance
Select item 983148	NM_152268.4(PARS2):c.340G>A (p.Gly114Ser)	PARS2 (G114S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 982976	NM_152268.4(PARS2):c.1129C>T (p.Pro377Ser)	PARS2 (P377S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 632570	NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)	PARS2 (R202G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 632568	NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)	PARS2 (E203K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 632567	NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)	PARS2 (I80T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75	GUncertain significance
Select item 632566	NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	PARS2 (P364R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +3 more	GConflicting classifications of pathogenicity
Select item 432121	NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	PARS2 (V95I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GConflicting classifications of pathogenicity
Select item 183149	NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)	PARS2 (S279L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 75 +1 more	GConflicting classifications of pathogenicity
Select item 183148	NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer)	PARS2	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 75	GPathogenic