ClinVar for MedGen (Select 13945) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374226	NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)	GRIN2B (M706V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 373918	NM_001130823.3(DNMT1):c.391C>T (p.Pro131Ser)	DNMT1 (P131S +1 more)	Single nucleotide variant (missense variant)	Dyssynergia +1 more	GUncertain significance
Select item 370064	NC_012920.1(MT-CYB):m.15127C>T	MT-CYB	Single nucleotide variant	Dyssynergia +4 more	GUncertain significance
Select item 370054	NC_012920.1:m.11896C>G	MT-ND4	Single nucleotide variant	Peripheral neuropathy +2 more	GUncertain significance
Select item 268156	NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	EBF3 (R163Q)	Single nucleotide variant (missense variant)	Global developmental delay +8 more	GPathogenic
Select item 268155	NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)	EBF3 (R163L)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GPathogenic
Select item 234790	NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr)	GRIN2B (I695T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar