"Genetic Services Laboratory, University of Chicago"[submitter] AND "P - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159711	NM_004278.4(PIGL):c.4G>A (p.Glu2Lys)	LOC130060313, PIGL (E2K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 159702	NM_004278.4(PIGL):c.30G>T (p.Ala10=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 159701	NM_004278.4(PIGL):c.169T>C (p.Phe57Leu)	PIGL (F57L)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 159703	NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)	PIGL (D113Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 159704	NM_004278.4(PIGL):c.354A>G (p.Pro118=)	PIGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159705	NM_004278.4(PIGL):c.424C>A (p.Leu142Met)	PIGL (L142M)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GConflicting classifications of pathogenicity
Select item 159707	NM_004278.4(PIGL):c.426+8G>A	PIGL	Single nucleotide variant (intron variant)	CHIME syndrome	GUncertain significance
Select item 159706	NM_004278.4(PIGL):c.426+14T>C	PIGL	Single nucleotide variant (intron variant)	CHIME syndrome	GUncertain significance
Select item 159708	NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)	PIGL (D147N)	Single nucleotide variant (missense variant)	CHIME syndrome +3 more	GUncertain significance
Select item 159709	NM_004278.4(PIGL):c.480G>A (p.Leu160=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 159710	NM_004278.4(PIGL):c.493A>C (p.Arg165=)	PIGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	PIGL (L167P)	Single nucleotide variant (missense variant)	CHIME syndrome +3 more	GPathogenic
Select item 159712	NM_004278.4(PIGL):c.526+10G>A	PIGL	Single nucleotide variant (intron variant)	CHIME syndrome +2 more	GConflicting classifications of pathogenicity
Select item 159713	NM_004278.4(PIGL):c.534T>C (p.Ser178=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 159714	NM_004278.4(PIGL):c.535G>A (p.Val179Met)	PIGL (V179M)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 159715	NM_004278.4(PIGL):c.540C>T (p.Leu180=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 159716	NM_004278.4(PIGL):c.595T>C (p.Leu199=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome +1 more	GConflicting classifications of pathogenicity
Select item 159717	NM_004278.4(PIGL):c.627C>T (p.Phe209=)	PIGL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 159718	NM_004278.4(PIGL):c.652C>G (p.Gln218Glu)	PIGL (Q218E)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance