C4225208[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805842	NM_015335.5(MED13L):c.6039del (p.Asn2014fs)	MED13L (N2014fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1805294	NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)	MED13L (Q2006fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1699209	NM_015335.5(MED13L):c.5364+1dup	MED13L	Duplication (splice donor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 280198	NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)	MED13L (R1760*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 798196	NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu)	MED13L (S1566L)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +3 more	GBenign/Likely benign
Select item 1805356	NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)	MED13L (T1565I)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 800215	NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu)	MED13L (P1564L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1805304	NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)	MED13L	Deletion (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1805347	NM_015335.5(MED13L):c.4087del (p.His1363fs)	MED13L (H1363fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GPathogenic
Select item 1699470	NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met)	MED13L (T1273M)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more	GUncertain significance
Select item 1805357	NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)	MED13L	Deletion (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1699335	NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter)	MED13L (Q1069*)	Single nucleotide variant (nonsense)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic
Select item 1699227	NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala)	MED13L (P879A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1805397	NM_015335.5(MED13L):c.2013-1G>T	MED13L	Single nucleotide variant (splice acceptor variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 504183	NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs)	MED13L (E665fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1805438	NM_015335.5(MED13L):c.1072A>G (p.Thr358Ala)	MED13L (T358A)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely benign
Select item 1805835	NM_015335.5(MED13L):c.881_882insAATCCCGGT (p.Val294_Pro295insIleProVal)	MED13L	Insertion (inframe_insertion)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GLikely benign
Select item 2106	NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)	MED13L (E251G)	Single nucleotide variant (missense variant)	Transposition of the great arteries, dextro-looped +1 more	GUncertain significance
Select item 1699309	NM_015335.5(MED13L):c.404T>C (p.Met135Thr)	MED13L (M135T)	Single nucleotide variant (missense variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GUncertain significance
Select item 1805335	NM_015335.5(MED13L):c.278del (p.Asn93fs)	MED13L (N93fs)	Deletion (frameshift variant)	Cardiac anomalies - developmental delay - facial dysmorphism syndrome	GPathogenic

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Items: 20