C0013421[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522269	NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	SATB2 (R459*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +4 more	GPathogenic
Select item 5180	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	TOR1A (E303del)	Microsatellite (inframe_deletion)	Early-onset generalized limb-onset dystonia +5 more	GConflicting classifications of pathogenicity
Select item 18438	NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)	TOR1A (F205I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 481777	NM_005591.4(MRE11):c.229G>A (p.Glu77Lys)	MRE11 (E77K)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder 1 +5 more	GUncertain significance
Select item 37108	NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3 (E815K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GPathogenic
Select item 37107	NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)	ATP1A3 (D801N +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 99 +6 more	GPathogenic
Select item 812786	NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)	PANK2 (K478E +3 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +2 more	GConflicting classifications of pathogenicity
Select item 209173	NC_012920.1(MT-ND6):m.14597A>G	MT-ND6	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database