ClinVar for MedGen (Select 994681) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234844	NM_001371623.1(TCOF1):c.2629_2648del (p.Ser877fs)	TCOF1 (S800fs +1 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 3233580	NM_001371623.1(TCOF1):c.610_625del (p.Ser204fs)	TCOF1 (S204fs)	Deletion (frameshift variant)	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 3063831	NM_001371623.1(TCOF1):c.3629del (p.Pro1210fs)	TCOF1 (P1132fs +5 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 3027435	NM_001371623.1(TCOF1):c.3840_3841del (p.Ala1282fs)	TCOF1 (A1204fs +5 more)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 3026901	NM_001371623.1(TCOF1):c.1017dup (p.Glu340fs)	TCOF1 (E263fs +1 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1 +1 more	GPathogenic
Select item 3023040	NM_001371623.1(TCOF1):c.1597A>G (p.Thr533Ala)	TCOF1 (T533A +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 3022982	NM_001371623.1(TCOF1):c.1488+17C>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 3004011	NM_001371623.1(TCOF1):c.570G>A (p.Met190Ile)	TCOF1 (M190I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 3002697	NM_001371623.1(TCOF1):c.4021A>C (p.Lys1341Gln)	TCOF1 (K1341Q +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2991493	NM_001371623.1(TCOF1):c.1997C>A (p.Pro666His)	TCOF1 (P666H +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2988186	NM_001371623.1(TCOF1):c.3604-13T>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2987873	NM_001371623.1(TCOF1):c.1083+12G>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign
Select item 2983814	NM_001371623.1(TCOF1):c.440C>T (p.Thr147Met)	TCOF1 (T147M)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2969506	NM_001371623.1(TCOF1):c.791A>G (p.Lys264Arg)	TCOF1 (K264R)	Single nucleotide variant (missense variant +1 more)	Treacher Collins syndrome 1	GUncertain significance
Select item 2963207	NM_001371623.1(TCOF1):c.931C>T (p.Pro311Ser)	TCOF1 (P311S +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2918491	NM_001371623.1(TCOF1):c.4443+12C>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2916217	NM_001371623.1(TCOF1):c.3991G>A (p.Val1331Met)	TCOF1 (V1292M +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2915713	NM_001371623.1(TCOF1):c.1629G>A (p.Glu543=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1 +1 more	GLikely benign
Select item 2913015	NM_001371623.1(TCOF1):c.2808C>T (p.Ser936=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2911893	NM_001371623.1(TCOF1):c.255G>A (p.Ser85=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2911237	NM_001371623.1(TCOF1):c.1538G>A (p.Gly513Asp)	TCOF1 (G513D +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2909751	NM_001371623.1(TCOF1):c.3183+18G>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2900986	NM_001371623.1(TCOF1):c.1999C>T (p.Arg667Trp)	TCOF1 (R590W +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2894204	NM_001371623.1(TCOF1):c.3297+10G>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2893497	NM_001371623.1(TCOF1):c.2016G>A (p.Ala672=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2882239	NM_001371623.1(TCOF1):c.1188T>C (p.Pro396=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2882106	NM_001371623.1(TCOF1):c.1464A>G (p.Ala488=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2881030	NM_001371623.1(TCOF1):c.3880A>C (p.Ser1294Arg)	TCOF1 (S1217R +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2873884	NM_001371623.1(TCOF1):c.1636G>A (p.Glu546Lys)	TCOF1 (E469K +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2870303	NM_001371623.1(TCOF1):c.1705-4C>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2870115	NM_001371623.1(TCOF1):c.2910C>A (p.Gly970=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2857411	NM_001371623.1(TCOF1):c.4125G>A (p.Glu1375=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2856474	NM_001371623.1(TCOF1):c.4249G>C (p.Glu1417Gln)	TCOF1 (E1416Q +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2856291	NM_001371623.1(TCOF1):c.2809G>A (p.Glu937Lys)	TCOF1 (E860K +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2854826	NM_001371623.1(TCOF1):c.108G>A (p.Gln36=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2854481	NM_001371623.1(TCOF1):c.1128C>A (p.Ala376=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1 +1 more	GLikely benign
Select item 2849148	NM_001371623.1(TCOF1):c.4378A>G (p.Lys1460Glu)	TCOF1 (K1382E +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2847755	NM_001371623.1(TCOF1):c.3530_3531delinsGT (p.Pro1177Arg)	TCOF1 (P1139R +5 more)	Indel (missense variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2846635	NC_000005.10:g.150374956_150374973del	TCOF1	Deletion	Treacher Collins syndrome 1	GUncertain significance
Select item 2844988	NM_001371623.1(TCOF1):c.2689A>T (p.Arg897Ter)	TCOF1 (R820* +1 more)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GPathogenic
Select item 2843174	NM_001371623.1(TCOF1):c.1704+9C>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GBenign
Select item 2841650	NM_001371623.1(TCOF1):c.2478+5G>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GPathogenic
Select item 2839532	NM_001371623.1(TCOF1):c.347A>T (p.Asp116Val)	TCOF1 (D116V)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2837426	NM_001371623.1(TCOF1):c.4380G>A (p.Lys1460=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2835051	NM_001371623.1(TCOF1):c.457T>G (p.Ser153Ala)	TCOF1 (S153A)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2824816	NM_001371623.1(TCOF1):c.1955C>T (p.Ala652Val)	TCOF1 (A575V +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2817375	NM_001371623.1(TCOF1):c.4186G>T (p.Ala1396Ser)	TCOF1 (A1319S +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2815076	NM_001371623.1(TCOF1):c.3889dup (p.Thr1297fs)	TCOF1 (T1296fs +5 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 2808139	NM_001371623.1(TCOF1):c.1279-10C>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2807953	NM_001371623.1(TCOF1):c.2389G>A (p.Ala797Thr)	TCOF1 (A797T +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2807628	NM_001371623.1(TCOF1):c.2416A>C (p.Ile806Leu)	TCOF1 (I729L +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2798601	NM_001371623.1(TCOF1):c.307C>G (p.Pro103Ala)	TCOF1 (P103A)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2798139	NM_001371623.1(TCOF1):c.1108C>G (p.Gln370Glu)	TCOF1 (Q370E +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GUncertain significance
Select item 2797402	NM_001371623.1(TCOF1):c.3517+20G>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2793014	NM_001371623.1(TCOF1):c.3654G>A (p.Gln1218=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2787048	NM_001371623.1(TCOF1):c.1122C>T (p.Ala374=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2781977	NM_001371623.1(TCOF1):c.1084-18C>G	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2781838	NM_001371623.1(TCOF1):c.130G>A (p.Val44Ile)	TCOF1 (V44I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2776587	NM_001371623.1(TCOF1):c.1893+8C>T	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2776312	NM_001371623.1(TCOF1):c.3979G>A (p.Glu1327Lys)	TCOF1 (E1250K +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2772801	NM_001371623.1(TCOF1):c.2347dup (p.Thr783fs)	TCOF1 (T706fs +1 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 2772767	NM_001371623.1(TCOF1):c.2340+11G>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2769834	NM_001371623.1(TCOF1):c.639+18C>G	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2765249	NM_001371623.1(TCOF1):c.165-19A>G	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2763501	NM_001371623.1(TCOF1):c.3003C>G (p.Ser1001Arg)	TCOF1 (S1001R +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2760891	NM_001371623.1(TCOF1):c.3951G>A (p.Val1317=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2760697	NM_001371623.1(TCOF1):c.3674dup (p.Leu1226fs)	TCOF1 (L1148fs +5 more)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 2760242	NM_001371623.1(TCOF1):c.2630G>A (p.Ser877Asn)	TCOF1 (S800N +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2753393	NM_001371623.1(TCOF1):c.2623_2640del (p.Ser875_Glu880del)	TCOF1	Deletion (inframe_deletion)	Treacher Collins syndrome 1	GUncertain significance
Select item 2743882	NM_001371623.1(TCOF1):c.2142+2T>C	TCOF1	Single nucleotide variant (splice donor variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2743784	NM_001371623.1(TCOF1):c.3282C>G (p.Thr1094=)	TCOF1	Single nucleotide variant (synonymous variant +1 more)	TCOF1-related disorder +1 more	GLikely benign
Select item 2740891	NM_001371623.1(TCOF1):c.1114G>A (p.Gly372Arg)	TCOF1 (G295R +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2734807	NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)	TCOF1 (W1305* +5 more)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GPathogenic
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 2734279	NM_001371623.1(TCOF1):c.2018C>A (p.Thr673Asn)	TCOF1 (T596N +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2734076	NM_001371623.1(TCOF1):c.1489-17T>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2730604	NM_001371623.1(TCOF1):c.4345+11G>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2730364	NM_001371623.1(TCOF1):c.109-8C>G	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2730161	NM_001371623.1(TCOF1):c.1823C>T (p.Ser608Leu)	TCOF1 (S608L +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2729295	NM_001371623.1(TCOF1):c.3003C>T (p.Ser1001=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2729016	NM_001371623.1(TCOF1):c.2838G>A (p.Pro946=)	TCOF1	Single nucleotide variant (synonymous variant)	TCOF1-related disorder +1 more	GLikely benign
Select item 2728946	NM_001371623.1(TCOF1):c.4434GAA[1] (p.Lys1483del)	TCOF1 (K1406del +5 more)	Microsatellite (inframe_deletion)	Treacher Collins syndrome 1	GUncertain significance
Select item 2726313	NM_001371623.1(TCOF1):c.4171G>A (p.Ala1391Thr)	TCOF1 (A1353T +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2722670	NM_001371623.1(TCOF1):c.2249C>T (p.Thr750Ile)	TCOF1 (T673I +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2721644	NM_001371623.1(TCOF1):c.1894-15T>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2721276	NM_001371623.1(TCOF1):c.1931G>A (p.Cys644Tyr)	TCOF1 (C644Y +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2718860	NM_001371623.1(TCOF1):c.3450C>T (p.Ser1150=)	TCOF1	Single nucleotide variant (synonymous variant)	TCOF1-related disorder +1 more	GLikely benign
Select item 2716818	NM_001371623.1(TCOF1):c.566-10C>T	TCOF1	Single nucleotide variant (intron variant)	TCOF1-related disorder +1 more	GLikely benign
Select item 2712476	NM_001371623.1(TCOF1):c.2781G>A (p.Gly927=)	TCOF1	Single nucleotide variant (synonymous variant)	TCOF1-related disorder +1 more	GLikely benign
Select item 2710852	NM_001371623.1(TCOF1):c.434G>A (p.Gly145Glu)	TCOF1 (G145E)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2704295	NM_001371623.1(TCOF1):c.995C>A (p.Ala332Glu)	TCOF1 (A332E +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2703995	NM_001371623.1(TCOF1):c.2807G>A (p.Ser936Asn)	TCOF1 (S859N +1 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2701618	NM_001371623.1(TCOF1):c.441G>A (p.Thr147=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2701592	NM_001371623.1(TCOF1):c.1614G>A (p.Val538=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2699957	NM_001371623.1(TCOF1):c.3614C>T (p.Ser1205Leu)	TCOF1 (S1127L +5 more)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2699076	NM_001371623.1(TCOF1):c.871-15T>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GUncertain significance
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 2671840	NM_001371623.1(TCOF1):c.4360delinsAAAAAGACAAAAAA (p.Glu1454fs)	TCOF1 (E1376fs +5 more)	Indel (frameshift variant)	Treacher Collins syndrome 1	GLikely pathogenic

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