ClinVar for MedGen (Select 349303) - ClinVar - NCBI

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

Links from MedGen

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584555	NM_002958.4(RYK):c.355-4703C>G	RYK	Single nucleotide variant (intron variant)	Orofacial cleft 1	GUncertain significance
Select item 2575902	NM_004822.3(NTN1):c.725T>C (p.Val242Ala)	NTN1 (V242A)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GUncertain significance
Select item 2575901	NM_005680.3(TAF1B):c.197dup (p.Asn66fs)	TAF1B (N66fs)	Duplication (5 prime UTR variant +1 more)	Orofacial cleft 1	GUncertain significance
Select item 2575900	NM_001024630.4(RUNX2):c.*2263C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Orofacial cleft 1	GUncertain significance
Select item 2575899	NM_001040272.6(ADAMTSL1):c.281C>T (p.Ser94Leu)	ADAMTSL1 (S94L)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GUncertain significance
Select item 2575898	NM_005461.5(MAFB):c.11A>G (p.Glu4Gly)	MAFB (E4G)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GLikely pathogenic
Select item 2575897	NM_004465.2(FGF10):c.355G>A (p.Gly119Arg)	FGF10 (G119R)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GLikely pathogenic
Select item 2575896	NM_001797.4(CDH11):c.*239dup	CDH11	Duplication (3 prime UTR variant)	Orofacial cleft 1	GUncertain significance
Select item 1950511	NM_133433.4(NIPBL):c.6955-9dup	NIPBL	Duplication (intron variant)	Cornelia de Lange syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 258213	NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	COL2A1 (R550L +1 more)	Single nucleotide variant (missense variant)	Orofacial cleft 1 +3 more	GConflicting classifications of pathogenicity
Select item 130662	NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)	TTN (R5266* +2 more)	Single nucleotide variant (nonsense +1 more)	Orofacial cleft 1 +4 more	GConflicting classifications of pathogenicity