C1851710[trait identifier] AND "Baylor-Hopkins Center for Mendelian Ge - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224882	NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)	NOTCH3 (Y2244*)	Single nucleotide variant (nonsense)	Lateral meningocele syndrome	GPathogenic
Select item 224881	NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)	NOTCH3 (A2233fs)	Duplication (frameshift variant)	Lateral meningocele syndrome +1 more	GPathogenic
Select item 224883	NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	NOTCH3 (Y2221*)	Single nucleotide variant (nonsense)	Lateral meningocele syndrome +1 more	GPathogenic
Select item 224880	NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)	NOTCH3 (G2154fs)	Deletion (frameshift variant)	Lateral meningocele syndrome	GPathogenic
Select item 208069	NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)	NOTCH3 (K2083*)	Single nucleotide variant (nonsense)	Lateral meningocele syndrome	GPathogenic

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