ClinVar for MedGen (Select 65139) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523570	NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)	FREM2 (R2243*)	Single nucleotide variant (nonsense)	Finger syndactyly +9 more	GPathogenic/Likely pathogenic
Select item 374189	NM_000165.5(GJA1):c.486G>C (p.Lys162Asn)	GJA1 (K162N)	Single nucleotide variant (missense variant)	Atrioventricular septal defect and common atrioventricular junction +7 more	GLikely pathogenic
Select item 374053	NM_000094.4(COL7A1):c.8047G>A (p.Gly2683Ser)	COL7A1 (G2683S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa pruriginosa +4 more	GLikely pathogenic
Select item 374052	NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter)	COL7A1 (R669*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa pruriginosa +16 more	GPathogenic
Select item 268035	46;XX;t(19;21)(q13.3;q22.3)dn		Translocation	Pectus excavatum +22 more	GPathogenic
Select item 268026	46;XX;t(7;14)(p15;q24)dn		Translocation	Anteriorly placed anus +13 more	GUncertain significance

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