"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285473	NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr)	MED13L (P2193T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 976386	NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)	MED13L (Q2092E)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 2627604	NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)	MED13L (S1913C)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 976118	NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)	MED13L (L1876fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 982675	NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del)	MED13L	Deletion (inframe_deletion)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 982756	NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)	MED13L (C1854*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 976059	NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His)	MED13L (Y1707H)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 976432	NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro)	MED13L (T1565P)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 983090	NM_015335.5(MED13L):c.4114+2T>A	MED13L	Single nucleotide variant (splice donor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 976277	NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val)	MED13L (L1240V)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 982677	NM_015335.5(MED13L):c.3227G>A (p.Ser1076Asn)	MED13L (S1076N)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely benign
Select item 976193	NM_015335.5(MED13L):c.2996+1G>A	MED13L	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3376159	NM_015335.5(MED13L):c.2593T>C (p.Phe865Leu)	MED13L (F865L)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely pathogenic
Select item 976305	NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys)	MED13L (S777C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 976020	NM_015335.5(MED13L):c.760_1175+967del	MED13L	Deletion (splice acceptor variant +1 more)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 3359035	NM_015335.5(MED13L):c.2569+8G>A	MED13L	Single nucleotide variant (intron variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 3358957	NM_015335.5(MED13L):c.57del (p.Asn20fs)	MED13L (N20fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic