"Baylor Genetics"[submitter] AND "MED13L"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238750	NM_015335.5(MED13L):c.6393_6415delinsAC (p.Leu2132_Ala2139delinsPro)	MED13L	Indel (inframe_indel)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 984811	NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)	MED13L (L1997fs)	Duplication (frameshift variant)	Transposition of the great arteries, dextro-looped	GPathogenic
Select item 1033772	NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile)	MED13L (V1887I)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1033771	NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs)	MED13L (I1659fs)	Insertion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 374334	NM_015335.5(MED13L):c.4956-2A>C	MED13L	Single nucleotide variant (splice acceptor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1033770	NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs)	MED13L (C1424fs)	Indel (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1693107	NM_015335.5(MED13L):c.4259A>G (p.Tyr1420Cys)	MED13L (Y1420C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1315224	NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu)	MED13L (S1397L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 2441703	NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)	MED13L (P1379L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 2441762	NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)	MED13L (N1175S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1033769	NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)	MED13L (S747L)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GUncertain significance
Select item 1030491	NM_015335.5(MED13L):c.1656A>G (p.Ile552Met)	MED13L (I552M)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1030493	NM_015335.5(MED13L):c.970C>T (p.Pro324Ser)	MED13L (P324S)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1030492	NM_015335.5(MED13L):c.443G>A (p.Arg148Gln)	MED13L (R148Q)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2582450	NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)	MED13L (R73C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 625741	GRCh37/hg19 12q24.21(chr12:116622732-116685976)	MED13L	Copy number loss	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 625563	GRCh37/hg19 12q24.21(chr12:116446308-116638445)	MED13L	Copy number loss	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic