"STRADA-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046511	NM_001003787.4(STRADA):c.876G>A (p.Leu292=)	STRADA	Single nucleotide variant (synonymous variant +2 more)	STRADA-related disorder	GLikely benign
Select item 787853	NM_001003787.4(STRADA):c.711T>C (p.Ser237=)	STRADA	Single nucleotide variant (synonymous variant)	STRADA-related disorder +1 more	GLikely benign
Select item 468886	NM_001003787.4(STRADA):c.582-6C>T	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more	GLikely benign
Select item 468884	NM_001003787.4(STRADA):c.508C>G (p.Leu170Val)	LOC125312417, STRADA (L170V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +2 more	GBenign
Select item 536762	NM_001003787.4(STRADA):c.482C>T (p.Thr161Ile)	LOC125312417, STRADA (T161I +5 more)	Single nucleotide variant (missense variant +1 more)	STRADA-related disorder +1 more	GLikely benign
Select item 2081343	NM_001003787.4(STRADA):c.227-6T>C	STRADA	Single nucleotide variant (intron variant)	STRADA-related disorder +1 more	GLikely benign
Select item 212324	NM_001003787.4(STRADA):c.135G>A (p.Ala45=)	STRADA	Single nucleotide variant (synonymous variant +3 more)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 536764	NM_001003787.4(STRADA):c.104C>T (p.Pro35Leu)	STRADA (P35L +1 more)	Single nucleotide variant (missense variant +2 more)	STRADA-related disorder +2 more	GLikely benign
Select item 963522	NM_001003787.4(STRADA):c.37-3T>C	STRADA	Single nucleotide variant (intron variant)	Polyhydramnios, megalencephaly, and symptomatic epilepsy +1 more	GConflicting classifications of pathogenicity