CN315775[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444278	NM_001371623.1(TCOF1):c.41T>G (p.Ile14Ser)	LOC129994985, TCOF1 (I14S)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2444356	NM_001371623.1(TCOF1):c.142del (p.Asp48fs)	TCOF1 (D48fs)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1705609	NM_001371623.1(TCOF1):c.551del (p.Ala184fs)	TCOF1 (A184fs)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1705685	NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter)	TCOF1 (Q195*)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1687378	NM_001371623.1(TCOF1):c.1399del (p.Gln467fs)	TCOF1 (Q390fs +1 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2444226	NM_001371623.1(TCOF1):c.1602dup (p.Ser535fs)	TCOF1 (S458fs +1 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1705551	NM_001371623.1(TCOF1):c.2112_2116del (p.Glu704fs)	TCOF1 (E627fs +1 more)	Microsatellite (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 1687307	NM_001371623.1(TCOF1):c.2257C>T (p.Gln753Ter)	TCOF1 (Q676* +1 more)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GPathogenic
Select item 1705735	NM_001371623.1(TCOF1):c.2388dup (p.Ala797fs)	TCOF1 (A720fs +1 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2444238	NM_001371623.1(TCOF1):c.3099del (p.Ala1035fs)	TCOF1 (A1035fs +1 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1705543	NM_001371623.1(TCOF1):c.3385_3389dup (p.Pro1131fs)	TCOF1 (P1054fs +2 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1806832	NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs)	TCOF1 (L1053fs +2 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1705661	NM_001371623.1(TCOF1):c.3631G>A (p.Gly1211Arg)	TCOF1 (G1133R +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 1687421	NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter)	TCOF1 (Q1208* +5 more)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1526079	NM_001371623.1(TCOF1):c.4027dup (p.Trp1343fs)	TCOF1 (W1265fs +5 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1705487	NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter)	TCOF1 (K1337* +5 more)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 436967	NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs)	TCOF1 (E1380fs +5 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	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
Select item 1806836	NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)	TCOF1 (E1379fs +5 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GPathogenic/Likely pathogenic