ClinVar for MedGen (Select 907277) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234988	NM_001379029.1(CERT1):c.853A>G (p.Arg285Gly)	CERT1 (R285G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 3068266	NM_001379029.1(CERT1):c.1212C>G (p.His404Gln)	CERT1 (H378Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2688766	NM_001379029.1(CERT1):c.1201G>T (p.Val401Leu)	CERT1 (V375L +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2672255	NM_001379029.1(CERT1):c.1300G>A (p.Val434Ile)	CERT1 (V408I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34 +1 more	GUncertain significance
Select item 2580916	NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)	CERT1 (G243A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GLikely pathogenic
Select item 2504168	NM_001379029.1(CERT1):c.1367A>G (p.His456Arg)	CERT1 (H430R +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GLikely benign
Select item 2440317	NM_001379029.1(CERT1):c.734C>T (p.Ala245Val)	CERT1 (A245V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2440316	NM_001379029.1(CERT1):c.1073C>G (p.Ala358Gly)	CERT1 (A358G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2439923	NM_001379029.1(CERT1):c.238G>A (p.Asp80Asn)	CERT1 (D208N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439922	NM_001379029.1(CERT1):c.-140C>A	CERT1, POLK (S82Y)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 2439921	NM_001379029.1(CERT1):c.-41A>T	CERT1, POLK (E115V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 1710195	NM_001379029.1(CERT1):c.1637G>A (p.Arg546His)	CERT1 (R520H +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 1707616	NM_001130105.1(CERT1):c.67G>A (p.Val23Ile)	CERT1, POLK (V23I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 1683632	NM_001379029.1(CERT1):c.1439T>C (p.Val480Ala)	CERT1 (V454A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 1199412	NM_001379029.1(CERT1):c.905C>A (p.Ser302Tyr)	CERT1 (S302Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 996843	NM_001379029.1(CERT1):c.-121del	CERT1, POLK (T89fs)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 801357	NM_001379029.1(CERT1):c.349-3dup	CERT1	Duplication (intron variant)	Intellectual disability, autosomal dominant 34	GLikely benign
Select item 634569	NM_001379029.1(CERT1):c.1301T>G (p.Val434Gly)	CERT1 (V562G +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 592133	NM_001379029.1(CERT1):c.1335del (p.Ala446fs)	CERT1 (A420fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 34	GUncertain significance
Select item 548566	NM_001379029.1(CERT1):c.-114G>T	CERT1, POLK (E91*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 34	GPathogenic
Select item 419654	NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu)	CERT1 (S260L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34 +1 more	GConflicting classifications of pathogenicity

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Items: 21