Related gene-specific medical variations for Gene (Select 9158) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3095188	NM_004214.5(FIBP):c.712A>C (p.Lys238Gln)	FIBP, LOC130006079 (K238Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065901	NM_004214.5(FIBP):c.747del (p.His250fs)	FIBP (H250fs +1 more)	Deletion (frameshift variant)	Tall stature-intellectual disability-renal anomalies syndrome	GLikely pathogenic
Select item 3064770	NM_004214.5(FIBP):c.558_559del (p.Gly187fs)	FIBP (G187fs)	Deletion (frameshift variant)	Tall stature-intellectual disability-renal anomalies syndrome	GLikely pathogenic
Select item 1033668	NM_004214.5(FIBP):c.668A>G (p.Asp223Gly)	FIBP (D223G +1 more)	Single nucleotide variant (missense variant)	Tall stature-intellectual disability-renal anomalies syndrome	GUncertain significance
Select item 797841	NM_004214.5(FIBP):c.24C>T (p.Phe8=)	FIBP, LOC130006080	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781005	NM_004214.5(FIBP):c.720A>T (p.Leu240=)	FIBP, LOC130006079	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745320	NM_004214.5(FIBP):c.21C>T (p.Ile7=)	FIBP, LOC130006080	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar