C0406557[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2715	NM_017671.5(FERMT1):c.1714_1715insA (p.Val572fs)	FERMT1 (V572fs)	Insertion (frameshift variant)	Kindler syndrome	GPathogenic
Select item 2718	NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter)	FERMT1 (R288*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2717	NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)	FERMT1 (R271*)	Single nucleotide variant (nonsense)	FERMT1-related condition +1 more	GPathogenic
Select item 2714	NM_017671.5(FERMT1):c.787C>T (p.Gln263Ter)	FERMT1 (Q263*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2716	NM_017671.5(FERMT1):c.464del (p.Asn155fs)	FERMT1 (N155fs)	Deletion (frameshift variant)	Kindler syndrome	GPathogenic
Select item 2713	NM_017671.5(FERMT1):c.385+2T>C	FERMT1	Single nucleotide variant (splice donor variant)	Kindler syndrome	GPathogenic

ClinVar