C3463992[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189886	NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)	SCN1A (R701* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +6 more	GPathogenic
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 1 +9 more	GConflicting classifications of pathogenicity
Select item 91395	NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	TBC1D24 (R242C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 16 +7 more	GPathogenic/Likely pathogenic
Select item 1493656	NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys)	TBC1D24 (R297C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 86 +3 more	GUncertain significance
Select item 2585446	NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)	REPS2 (Q607* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 1878533	NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)	ARX (L537P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GUncertain significance
Select item 3024090	NM_139058.3(ARX):c.1531dup (p.Ala511fs)	ARX (A511fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 1	GLikely pathogenic
Select item 2664231	NM_139058.3(ARX):c.611G>C (p.Arg204Pro)	ARX (R204P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 1	GUncertain significance