ClinVar for MedGen (Select 1824026) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254810	NM_001393504.1(MAST3):c.913A>G (p.Ile305Val)	MAST3 (I267V +11 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GUncertain significance
Select item 3068155	NM_001393504.1(MAST3):c.2612G>A (p.Arg871His)	MAST3 (R833H +11 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GUncertain significance
Select item 3065978	NM_001393504.1(MAST3):c.1747C>T (p.Arg583Cys)	MAST3 (R545C +11 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GUncertain significance
Select item 2692301	NM_001393504.1(MAST3):c.1304G>A (p.Arg435His)	MAST3 (R397H +11 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GUncertain significance
Select item 1723195	NM_001393504.1(MAST3):c.1304G>C (p.Arg435Pro)	MAST3 (R397P +10 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GPathogenic
Select item 1723194	NM_001393504.1(MAST3):c.1738G>T (p.Val580Leu)	MAST3 (V542L +10 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GPathogenic
Select item 1723193	NM_001393504.1(MAST3):c.1634T>C (p.Leu545Pro)	MAST3 (L507P +10 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GPathogenic
Select item 1723192	NM_001393504.1(MAST3):c.1630G>A (p.Gly544Ser)	MAST3 (G506S +10 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 108	GPathogenic
Select item 1172537	NM_001393504.1(MAST3):c.1615G>A (p.Gly539Ser)	MAST3 (G510S +11 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity