"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PIGV"[gene] - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 297114	NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)	PIGV (P34L)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +2 more	GBenign/Likely benign
Select item 449659	NM_017837.4(PIGV):c.115G>A (p.Glu39Lys)	PIGV (E39K)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289202	NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val)	PIGV (I117V)	Indel (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 733557	NM_017837.4(PIGV):c.473G>A (p.Ser158Asn)	PIGV (S31N +1 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GLikely benign
Select item 297118	NM_017837.4(PIGV):c.808C>T (p.Arg270Cys)	PIGV (R270C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1284	NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	PIGV (A341E +2 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 426552	NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe)	PIGV (L457F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 297125	NM_017837.4(PIGV):c.*149G>A	PIGV	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign