"Revvity Omics, Revvity"[submitter] AND "TCOF1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2384367	NM_001371623.1(TCOF1):c.928A>C (p.Thr310Pro)	TCOF1 (T233P +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GUncertain significance
Select item 2437025	NM_001371623.1(TCOF1):c.1243G>A (p.Glu415Lys)	TCOF1 (E338K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1941579	NM_001371623.1(TCOF1):c.1708A>G (p.Lys570Glu)	TCOF1 (K570E +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GUncertain significance
Select item 2437024	NM_001371623.1(TCOF1):c.2717C>T (p.Ser906Phe)	TCOF1 (S829F +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 1981420	NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)	TCOF1 (D1151N +2 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GUncertain significance
Select item 1323681	NM_001371623.1(TCOF1):c.4080del (p.Arg1361fs)	TCOF1 (R1283fs +5 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GPathogenic

ClinVar