ClinVar for MedGen (Select 66078) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574641	NM_001371623.1(TCOF1):c.2853dup (p.Ala952fs)	TCOF1 (A875fs +1 more)	Duplication (frameshift variant)	Treacher Collins syndrome	Gnot provided
Select item 2574640	NM_001371623.1(TCOF1):c.2490del (p.Pro830_Val831insTer)	TCOF1	Deletion (frameshift variant)	Treacher Collins syndrome	Gnot provided
Select item 1329860	NM_001371623.1(TCOF1):c.645del (p.Lys215fs)	TCOF1 (K215fs)	Deletion (frameshift variant +1 more)	Treacher Collins syndrome 1	GPathogenic
Select item 1321195	NM_001371623.1(TCOF1):c.1075del (p.Leu359fs)	TCOF1 (L282fs +1 more)	Deletion (frameshift variant)	Treacher Collins syndrome	GPathogenic
Select item 947528	NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)	TCOF1 (S341fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 932313	NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)	POLR1B (R1003S +6 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 4	GPathogenic
Select item 932312	NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)	POLR1B (R1003C +6 more)	Single nucleotide variant (missense variant)	POLR1B-related disorder	GPathogenic
Select item 932311	NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)	POLR1B (S682R +6 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 4	GPathogenic
Select item 419066	NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs)	TCOF1 (E1324fs +5 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 156464	NM_015972.4(POLR1D):c.163C>G (p.Leu55Val)	POLR1D (L55V)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 2	GPathogenic
Select item 3963	NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)	TCOF1 (K1381fs +5 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic