ClinVar for MedGen (Select 341214) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687204	NM_004278.4(PIGL):c.262C>G (p.Arg88Gly)	PIGL (R88G)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 1526252	NM_004278.4(PIGL):c.154_161del (p.Asp52fs)	PIGL (D52fs)	Deletion (frameshift variant)	CHIME syndrome	GLikely pathogenic
Select item 1341513	NM_004278.4(PIGL):c.438C>A (p.Phe146Leu)	PIGL (F146L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1338851	NM_004278.4(PIGL):c.660+1G>T	PIGL	Single nucleotide variant (splice donor variant)	CHIME syndrome	GLikely pathogenic
Select item 1324907	NM_004278.4(PIGL):c.494+1G>A	PIGL	Single nucleotide variant (splice donor variant)	CHIME syndrome	GLikely pathogenic
Select item 1031398	NM_004278.4(PIGL):c.296T>G (p.Leu99Trp)	PIGL (L99W)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 931657	NM_004278.4(PIGL):c.725G>C (p.Arg242Pro)	PIGL (R242P)	Single nucleotide variant (missense variant)	CHIME syndrome +1 more	GUncertain significance
Select item 891824	NM_004278.4(PIGL):c.398A>G (p.Gln133Arg)	PIGL (Q133R)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 891823	NM_004278.4(PIGL):c.130C>T (p.Leu44=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 890071	NM_004278.4(PIGL):c.*364G>A	PIGL	Single nucleotide variant (3 prime UTR variant)	CHIME syndrome	GBenign
Select item 890070	NM_004278.4(PIGL):c.*318C>A	PIGL	Single nucleotide variant (3 prime UTR variant)	CHIME syndrome	GUncertain significance
Select item 890069	NM_004278.4(PIGL):c.*182A>G	PIGL	Single nucleotide variant (3 prime UTR variant)	CHIME syndrome	GBenign
Select item 889381	NM_004278.4(PIGL):c.724C>T (p.Arg242Trp)	PIGL (R242W)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 889380	NM_004278.4(PIGL):c.535G>T (p.Val179Leu)	PIGL (V179L)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
Select item 638452	NM_004278.4(PIGL):c.263G>A (p.Arg88His)	PIGL (R88H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632268	NM_004278.4(PIGL):c.336-2A>G	PIGL	Single nucleotide variant (splice acceptor variant)	CHIME syndrome +1 more	GConflicting classifications of pathogenicity
Select item 374175	NM_004278.4(PIGL):c.176C>A (p.Pro59His)	PIGL (P59H)	Single nucleotide variant (missense variant)	CHIME syndrome +8 more	GUncertain significance
Select item 321995	NM_004278.4(PIGL):c.*324A>G	PIGL	Single nucleotide variant (3 prime UTR variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more	GUncertain significance
Select item 321994	NM_004278.4(PIGL):c.*254T>C	PIGL	Single nucleotide variant (3 prime UTR variant)	CHIME syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321993	NM_004278.4(PIGL):c.*185A>C	PIGL	Single nucleotide variant (3 prime UTR variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more	GUncertain significance
Select item 321992	NM_004278.4(PIGL):c.*184A>C	PIGL	Single nucleotide variant (3 prime UTR variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more	GUncertain significance
Select item 321991	NM_004278.4(PIGL):c.*86A>G	PIGL	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 321990	NM_004278.4(PIGL):c.*20A>G	PIGL	Single nucleotide variant (3 prime UTR variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +2 more	GBenign
Select item 321989	NM_004278.4(PIGL):c.542C>T (p.Thr181Met)	PIGL (T181M)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +2 more	GUncertain significance
Select item 321988	NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)	PIGL (G149A)	Single nucleotide variant (missense variant)	CHIME syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321987	NM_004278.4(PIGL):c.420C>T (p.Ile140=)	PIGL	Single nucleotide variant (synonymous variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more	GUncertain significance
Select item 321986	NM_004278.4(PIGL):c.258_259del (p.Glu86fs)	PIGL (E86fs)	Microsatellite (frameshift variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +1 more	GUncertain significance
Select item 159718	NM_004278.4(PIGL):c.652C>G (p.Gln218Glu)	PIGL (Q218E)	Single nucleotide variant (missense variant)	CHIME syndrome	GUncertain significance
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 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 159715	NM_004278.4(PIGL):c.540C>T (p.Leu180=)	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 159713	NM_004278.4(PIGL):c.534T>C (p.Ser178=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
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 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 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 159709	NM_004278.4(PIGL):c.480G>A (p.Leu160=)	PIGL	Single nucleotide variant (synonymous variant)	CHIME syndrome	GUncertain significance
Select item 159708	NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)	PIGL (D147N)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GUncertain significance
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 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 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 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 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 30547	NM_004278.4(PIGL):c.427-1G>A	PIGL	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 30546	NM_004278.4(PIGL):c.652C>T (p.Gln218Ter)	PIGL (Q218*)	Single nucleotide variant (nonsense)	CHIME syndrome	GPathogenic
Select item 30545	NM_004278.4(PIGL):c.274del (p.Leu92fs)	PIGL (L92fs)	Deletion (frameshift variant)	CHIME syndrome	GPathogenic
Select item 30544	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	PIGL (L167P)	Single nucleotide variant (missense variant)	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome +3 more	GPathogenic

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Items: 49