6949[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 154695	GRCh38/hg38 5q32-33.1(chr5:150356455-150688333)x3	CD74, LOC112997569 +43 more	Copy number gain	See cases	GUncertain significance
Select item 1268200	NC_000005.10:g.150357401C>T	TCOF1	Single nucleotide variant	not provided	GBenign
Select item 1258191	NM_001135243.1(TCOF1):c.-89T>G	LOC129994985, TCOF1	Single nucleotide variant	not provided	GBenign
Select item 209019	NM_001135244.1(TCOF1):c.-59G>A	LOC129994985, TCOF1	Single nucleotide variant	Treacher Collins syndrome 1	GLikely benign
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 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 938964	NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)	LOC129994985, TCOF1 (E9*)	Single nucleotide variant (nonsense)	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 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 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 381618	NM_001371623.1(TCOF1):c.50A>G (p.His17Arg)	LOC129994985, TCOF1 (H17R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely 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 1311597	NM_001371623.1(TCOF1):c.76G>A (p.Ala26Thr)	LOC129994985, TCOF1 (A26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1805168	NM_001371623.1(TCOF1):c.85G>C (p.Glu29Gln)	TCOF1 (E29Q)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 960386	NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)	TCOF1 (V30G)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 2630305	NM_001371623.1(TCOF1):c.102_103delinsTAAGCTGCACCAC (p.Gly35fs)	TCOF1 (G35fs)	Indel (frameshift variant)	TCOF1-related condition	GLikely pathogenic
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 3061355	NM_001371623.1(TCOF1):c.108+1G>A	TCOF1	Single nucleotide variant (splice donor variant)	TCOF1-related condition	GLikely pathogenic
Select item 2128240	NM_001371623.1(TCOF1):c.108+11G>T	TCOF1	Single nucleotide variant (intron 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 209024	NM_001371623.1(TCOF1):c.109-28T>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 1240602	NM_001371623.1(TCOF1):c.109-13T>C	TCOF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1067473	NM_001371623.1(TCOF1):c.109-3del	TCOF1	Deletion (intron variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1459152	NM_001371623.1(TCOF1):c.109-1del	TCOF1	Deletion (splice acceptor variant)	Treacher Collins syndrome 1	GPathogenic
Select item 998569	NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu)	TCOF1 (F39L)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 212383	NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)	TCOF1 (A41V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2168142	NM_001371623.1(TCOF1):c.129C>G (p.Pro43=)	TCOF1	Single nucleotide variant (synonymous 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 1436216	NM_001371623.1(TCOF1):c.134C>T (p.Thr45Ile)	TCOF1 (T45I)	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 3964	NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys)	TCOF1 (Y50C)	Single nucleotide variant (missense variant)	not provided	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 1496843	NM_001371623.1(TCOF1):c.161A>C (p.Gln54Pro)	TCOF1 (Q54P)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 130563	NM_001371623.1(TCOF1):c.162A>G (p.Gln54=)	TCOF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1451564	NM_001371623.1(TCOF1):c.163C>T (p.Gln55Ter)	TCOF1 (Q55*)	Single nucleotide variant (nonsense)	Treacher Collins syndrome 1	GPathogenic
Select item 1662858	NM_001371623.1(TCOF1):c.164+17A>G	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 1216376	NM_001371623.1(TCOF1):c.164+206G>A	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183504	NM_001371623.1(TCOF1):c.165-190G>T	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203584	NM_001371623.1(TCOF1):c.165-115G>A	TCOF1	Single nucleotide variant (intron variant)	not provided	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 2174902	NM_001371623.1(TCOF1):c.181C>T (p.Arg61Trp)	TCOF1 (R61W)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 644290	NM_001371623.1(TCOF1):c.187C>T (p.Arg63Trp)	TCOF1 (R63W)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1206377	NM_001371623.1(TCOF1):c.188G>A (p.Arg63Gln)	TCOF1 (R63Q)	Single nucleotide variant (missense variant)	TCOF1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2542735	NM_001371623.1(TCOF1):c.206C>T (p.Ala69Val)	TCOF1 (A69V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060056	NM_001371623.1(TCOF1):c.207G>A (p.Ala69=)	TCOF1	Single nucleotide variant (synonymous variant)	TCOF1-related condition	GLikely benign
Select item 1626349	NM_001371623.1(TCOF1):c.216A>G (p.Gln72=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2197272	NM_001371623.1(TCOF1):c.229C>T (p.Arg77Cys)	TCOF1 (R77C)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 1378895	NM_001371623.1(TCOF1):c.230G>A (p.Arg77His)	TCOF1 (R77H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312317	NM_001371623.1(TCOF1):c.252C>T (p.Thr84=)	TCOF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 764328	NM_001371623.1(TCOF1):c.264G>A (p.Ser88=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 718119	NM_001371623.1(TCOF1):c.270G>A (p.Glu90=)	TCOF1	Single nucleotide variant (synonymous variant)	TCOF1-related condition +1 more	GLikely benign
Select item 1910240	NM_001371623.1(TCOF1):c.288C>T (p.Ala96=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 1473576	NM_001371623.1(TCOF1):c.289G>A (p.Glu97Lys)	TCOF1 (E97K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2100611	NM_001371623.1(TCOF1):c.293C>T (p.Thr98Ile)	TCOF1 (T98I)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 2147815	NM_001371623.1(TCOF1):c.294C>T (p.Thr98=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 257551	NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)	TCOF1 (A99T)	Single nucleotide variant (missense variant)	TCOF1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2086953	NM_001371623.1(TCOF1):c.304+1del	TCOF1	Deletion (splice donor variant)	Treacher Collins syndrome 1	GPathogenic
Select item 1805079	NM_001371623.1(TCOF1):c.304+5G>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GPathogenic
Select item 1279339	NM_001371623.1(TCOF1):c.304+161C>T	TCOF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231546	NM_001371623.1(TCOF1):c.304+202C>T	TCOF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57111	GRCh38/hg38 5q32(chr5:150365489-150381740)x3	TCOF1	Copy number gain	See cases	GPathogenic
Select item 1200055	NM_001371623.1(TCOF1):c.305-291C>T	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209157	NM_001371623.1(TCOF1):c.305-256G>A	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181687	NM_001371623.1(TCOF1):c.305-254T>C	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 209035	NM_001371623.1(TCOF1):c.305-52A>G	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194568	NM_001371623.1(TCOF1):c.305-36C>A	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1595557	NM_001371623.1(TCOF1):c.305-15_305-14del	TCOF1	Deletion (intron variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2083863	NM_001371623.1(TCOF1):c.305-4G>C	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GLikely benign
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 1455191	NM_001371623.1(TCOF1):c.309A>C (p.Pro103=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2502118	NM_001371623.1(TCOF1):c.323C>T (p.Thr108Ile)	TCOF1 (T108I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065029	NM_001371623.1(TCOF1):c.325A>G (p.Asn109Asp)	TCOF1 (N109D)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 1218129	NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser)	TCOF1 (N109S)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1202868	NM_001371623.1(TCOF1):c.337C>A (p.Leu113Met)	TCOF1 (L113M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2055403	NM_001371623.1(TCOF1):c.345G>A (p.Ala115=)	TCOF1	Single nucleotide variant (synonymous variant)	Treacher Collins syndrome 1	GLikely benign
Select item 2274708	NM_001371623.1(TCOF1):c.346G>A (p.Asp116Asn)	TCOF1 (D116N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3967	NM_001371623.1(TCOF1):c.376_378+15del	TCOF1	Deletion (splice donor variant)	Treacher Collins syndrome 1	GPathogenic
Select item 639625	NM_001371623.1(TCOF1):c.378+1G>A	TCOF1	Single nucleotide variant (splice donor variant)	Treacher Collins syndrome 1	GLikely pathogenic
Select item 1357739	NM_001371623.1(TCOF1):c.378+3G>A	TCOF1	Single nucleotide variant (intron variant)	Treacher Collins syndrome 1	GUncertain significance
Select item 1579188	NM_001371623.1(TCOF1):c.378+16T>C	TCOF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1190069	NM_001371623.1(TCOF1):c.378+39T>G	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214102	NM_001371623.1(TCOF1):c.378+73A>C	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203601	NM_001371623.1(TCOF1):c.378+74G>T	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212543	NM_001371623.1(TCOF1):c.378+248G>A	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 58119	GRCh38/hg38 5q32(chr5:150368321-150396843)x3	TCOF1	Copy number gain	See cases	GPathogenic
Select item 1195563	NM_001371623.1(TCOF1):c.379-184A>G	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198620	NM_001371623.1(TCOF1):c.379-179T>G	TCOF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054212	NM_001371623.1(TCOF1):c.381A>G (p.Ala127=)	TCOF1	Single nucleotide variant (synonymous variant)	TCOF1-related condition	GLikely benign
Select item 1687709	NM_001371623.1(TCOF1):c.384_385del (p.Glu128fs)	TCOF1 (E128fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 212384	NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs)	TCOF1 (T129fs)	Deletion (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 2136345	NM_001371623.1(TCOF1):c.390_391del (p.Lys131fs)	TCOF1 (K131fs)	Microsatellite (frameshift variant)	Treacher Collins syndrome 1	GPathogenic
Select item 3961	NM_001371623.1(TCOF1):c.422dup (p.His141fs)	TCOF1 (H141fs)	Duplication (frameshift variant)	Treacher Collins syndrome 1	GPathogenic

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