C4225208[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321283	NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr)	MED13L (C1993Y)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1320085	NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs)	MED13L (M1750fs)	Duplication (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 2096582	NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)	MED13L (E1651D)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GConflicting classifications of pathogenicity
Select item 2228624	NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)	MED13L (N1311S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1687298	NM_015335.5(MED13L):c.3380del (p.Asn1127fs)	MED13L (N1127fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 1687615	NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs)	MED13L (D1117fs)	Microsatellite (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 431916	NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)	MED13L (P866L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1320063	NM_015335.5(MED13L):c.2239-11T>G	MED13L	Single nucleotide variant (intron variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 666327	NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)	MED13L (Q689*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic/Likely pathogenic
Select item 221555	NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)	MED13L (S570fs)	Microsatellite (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +2 more	GPathogenic
Select item 1333199	NM_015335.5(MED13L):c.1218dup (p.Ser407Ter)	MED13L (S407*)	Duplication (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 2433716	NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)	MED13L (G337D)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GConflicting classifications of pathogenicity
Select item 2444237	NM_015335.5(MED13L):c.889_890del (p.Ser297fs)	MED13L (S297fs)	Microsatellite (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 978841	NM_015335.5(MED13L):c.395+1G>A	MED13L	Single nucleotide variant (splice donor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GPathogenic/Likely pathogenic