"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1216188	NM_003244.4(TGIF1):c.16+1632C>T	TGIF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 618431	NM_003244.4(TGIF1):c.125T>A (p.Leu42Gln)	TGIF1 (L42Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259016	NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser)	TGIF1 (P163S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 259017	NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu)	TGIF1 (P163L +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 440336	NM_003244.4(TGIF1):c.700A>G (p.Asn234Asp)	TGIF1 (N248D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 326710	NM_003244.4(TGIF1):c.723G>A (p.Pro241=)	TGIF1	Single nucleotide variant (synonymous variant)	Holoprosencephaly 4	GConflicting classifications of pathogenicity

ClinVar