"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MED13L"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 701183	NM_015335.5(MED13L):c.4788T>A (p.Ile1596=)	MED13L	Single nucleotide variant (synonymous variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +2 more	GLikely benign
Select item 697319	NM_015335.5(MED13L):c.4593C>T (p.Thr1531=)	MED13L	Single nucleotide variant (synonymous variant)	Transposition of the great arteries, dextro-looped +2 more	GBenign/Likely benign
Select item 464490	NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser)	MED13L (G1173S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241042	NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg)	MED13L (K1171R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1236327	NM_015335.5(MED13L):c.2239-16T>C	MED13L	Single nucleotide variant (intron variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +2 more	GBenign
Select item 1244879	NM_015335.5(MED13L):c.2013-29dup	MED13L	Duplication (intron variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +2 more	GBenign/Likely benign
Select item 445571	NM_015335.5(MED13L):c.2012+10CT[2]	MED13L	Microsatellite (intron variant)	Transposition of the great arteries, dextro-looped +2 more	GBenign/Likely benign
Select item 241041	NM_015335.5(MED13L):c.1215T>G (p.Pro405=)	MED13L	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign