Related gene-specific medical variations for Gene (Select 6949) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246423	NC_000005.9:g.(?_149776191)_(149778631_?)del	TCOF1	Deletion	Treacher Collins syndrome 1	GPathogenic
Select item 3246422	NC_000005.9:g.(?_149737310)_(149743835_?)del	TCOF1	Deletion	Treacher Collins syndrome 1	GPathogenic
Select item 3068214	NM_001371623.1(TCOF1):c.3052del (p.Arg1018fs)	TCOF1 (R1018fs +1 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 3064844	NM_001371623.1(TCOF1):c.4123G>T (p.Glu1375Ter)	TCOF1 (E1297* +5 more)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2734804	NM_001371623.1(TCOF1):c.1A>T (p.Met1Leu)	LOC129994985, TCOF1 (M1L)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 1	GPathogenic
Select item 2683611	NM_001371623.1(TCOF1):c.37del (p.Pro12_Leu13insTer)	LOC129994985, TCOF1	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 2672249	NM_001371623.1(TCOF1):c.1849_1850del (p.Ser617fs)	TCOF1 (S540fs +1 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2655924	NM_001371623.1(TCOF1):c.78G>A (p.Ala26=)	LOC129994985, TCOF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637914	NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)	TCOF1 (Q1174fs +5 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2579124	NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)	TCOF1 (W53*)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GLikely pathogenic
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 2503410	NM_001371623.1(TCOF1):c.1019_1022del (p.Glu340fs)	TCOF1 (E263fs +1 more)	Microsatellite (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2498031	NM_001371623.1(TCOF1):c.53T>C (p.Leu18Pro)	LOC129994985, TCOF1 (L18P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2437025	NM_001371623.1(TCOF1):c.1243G>A (p.Glu415Lys)	TCOF1 (E338K +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	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 2414445	NM_001371623.1(TCOF1):c.4346-12_4346-8del	LOC129994988, TCOF1	Microsatellite (intron variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2106199	NM_001371623.1(TCOF1):c.4448A>C (p.Lys1483Thr)	LOC129994989, TCOF1 (K1406T +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2068203	NM_001371623.1(TCOF1):c.4444-18G>A	LOC129994989, TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign
Select item 1704715	NM_001371623.1(TCOF1):c.*22+1G>A	LOC129994989, TCOF1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1676382	NM_001135243.2(TCOF1):c.517A>G (p.Thr173Ala)	TCOF1 (T173A)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676349	NM_001135243.2(TCOF1):c.535G>A (p.Val179Ile)	TCOF1 (V179I)	Single nucleotide variant	not provided	GUncertain significance
Select item 1607370	NM_001371623.1(TCOF1):c.4444-19C>T	LOC129994989, TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 1576967	NM_001371623.1(TCOF1):c.4346-17T>A	LOC129994988, TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign/Likely benign
Select item 1323681	NM_001371623.1(TCOF1):c.4080del (p.Arg1361fs)	TCOF1 (R1283fs +5 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 1319300	NM_001371623.1(TCOF1):c.3518-1G>A	TCOF1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1311597	NM_001371623.1(TCOF1):c.76G>A (p.Ala26Thr)	LOC129994985, TCOF1 (A26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1281712	NM_001371623.1(TCOF1):c.*1C>T	LOC129994989, TCOF1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1229432	NM_001371623.1(TCOF1):c.*22+26A>G	LOC129994989, TCOF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 938964	NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)	LOC129994985, TCOF1 (E9*)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GPathogenic
Select item 931320	NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)	TCOF1 (Q325* +1 more)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GPathogenic
Select item 816644	NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met)	LOC129994985, TCOF1 (I14M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 584260	NC_000005.10:g.(?_150399002)_(150399068_?)del	LOC129994989, TCOF1	Deletion	Treacher Collins syndrome 1	GLikely pathogenic
Select item 546988	NM_001371623.1(TCOF1):c.635_636del (p.Val212fs)	TCOF1 (V212fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 522967	NM_001371623.1(TCOF1):c.3683C>T (p.Ser1228Phe)	TCOF1 (S1150F +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 441658	GRCh37/hg19 5q32(chr5:149731885-149738613)x1	TCOF1	Copy number loss	See cases	GPathogenic
Select item 381618	NM_001371623.1(TCOF1):c.50A>G (p.His17Arg)	LOC129994985, TCOF1 (H17R)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 352247	NM_001371623.1(TCOF1):c.*466dup	LOC129994992, TCOF1	Duplication (3 prime UTR variant)	Treacher Collins Syndrome, Dominant	GLikely benign
Select item 352237	NM_001371623.1(TCOF1):c.4458G>A (p.Glu1486=)	LOC129994989, TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1 +1 more	GBenign
Select item 352192	NM_001371623.1(TCOF1):c.-19C>T	LOC129994985, TCOF1	Single nucleotide variant (5 prime UTR variant)	Treacher Collins Syndrome, Dominant	GUncertain significance
Select item 257550	NM_001371623.1(TCOF1):c.2659-24_2659-20del	TCOF1	Microsatellite (intron variant)	not specified	GBenign
Select item 209033	NM_001371623.1(TCOF1):c.2859+3303G>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign
Select item 209032	NM_001371623.1(TCOF1):c.2859+26A>G	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209030	NM_001371623.1(TCOF1):c.2142+22C>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209029	NM_001371623.1(TCOF1):c.1953T>C (p.Thr651=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209026	NM_001371623.1(TCOF1):c.1278+60G>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign
Select item 209024	NM_001371623.1(TCOF1):c.109-28T>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209023	NM_001371623.1(TCOF1):c.1086G>A (p.Ala362=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209021	NM_001371623.1(TCOF1):c.108+62_108+68del	LOC129994986, TCOF1	Microsatellite (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209018	NM_001371623.1(TCOF1):c.4443+108C>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign
Select item 209017	NM_001371623.1(TCOF1):c.4443+106G>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209015	NM_001371623.1(TCOF1):c.4298_4299delinsGA (p.Asp1433Gly)	TCOF1 (D1394G +5 more)	Indel (missense variant)	Treacher Collins syndrome 1	GLikely benign
Select item 209012	NM_001371623.1(TCOF1):c.3603+64dup	TCOF1	Duplication (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 58119	GRCh38/hg38 5q32(chr5:150368321-150396843)x3	TCOF1	Copy number gain	See cases	GPathogenic
Select item 57111	GRCh38/hg38 5q32(chr5:150365489-150381740)x3	TCOF1	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56