C3281029[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1186082	NM_152743.4(BRAT1):c.*219C>A	BRAT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 540171	NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)	BRAT1 (R777G +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +3 more	GUncertain significance
Select item 472957	NM_152743.4(BRAT1):c.1939G>T (p.Asp647Tyr)	BRAT1 (D647Y +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 446895	NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)	BRAT1 (R610W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 472954	NM_152743.4(BRAT1):c.1726G>A (p.Gly576Ser)	BRAT1 (G576S +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GBenign/Likely benign
Select item 472947	NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)	BRAT1 (G532R +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +3 more	GConflicting classifications of pathogenicity
Select item 546475	NM_152743.4(BRAT1):c.1340C>T (p.Thr447Met)	BRAT1 (T447M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 472936	NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)	BRAT1 (Q438fs +1 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more	GPathogenic
Select item 576068	NM_152743.4(BRAT1):c.1297C>G (p.Leu433Val)	BRAT1 (L433V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 472932	NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val)	BRAT1 (L400V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more	GUncertain significance
Select item 472985	NM_152743.4(BRAT1):c.993G>A (p.Thr331=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +3 more	GBenign/Likely benign
Select item 377093	NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)	BRAT1 (L321R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1249397	NM_152743.4(BRAT1):c.924-14G>A	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GBenign
Select item 540153	NM_152743.4(BRAT1):c.883A>G (p.Met295Val)	BRAT1 (M295V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more	GUncertain significance
Select item 235265	NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser)	BRAT1 (C289S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 434519	NM_152743.4(BRAT1):c.675C>T (p.Phe225=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +3 more	GBenign/Likely benign
Select item 660880	NM_152743.4(BRAT1):c.59G>A (p.Arg20Lys)	BRAT1 (R20K)	Single nucleotide variant (missense variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GUncertain significance