C0034341[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559359	NM_001040716.2(PC):c.3391G>A (p.Val1131Met)	PC (V1131M)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 305617	NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)	PC (A1114V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 203917	NM_001040716.2(PC):c.3107G>A (p.Arg1036His)	PC (R1036H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1027060	NM_001040716.2(PC):c.3034A>G (p.Met1012Val)	PC (M1012V)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GUncertain significance
Select item 879802	NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)	PC (R928Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1397136	NM_001040716.2(PC):c.2024G>A (p.Arg675His)	PC (R675H)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 877861	NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)	PC (D586N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129879	NM_001040716.2(PC):c.1513+9C>A	PC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1328851	NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)	PC (T457S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 645555	NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)	PC (A384T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 551488	NM_001040716.2(PC):c.633+2T>C	PC	Single nucleotide variant (splice donor variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 737017	NM_001040716.2(PC):c.561C>T (p.Tyr187=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency	GLikely benign
Select item 203919	NM_001040716.2(PC):c.496G>A (p.Val166Ile)	PC (V166I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 203906	NM_001040716.2(PC):c.85G>A (p.Val29Ile)	PC (V29I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign