YAP1[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 1278207	NM_001130145.3(YAP1):c.-303T>C	YAP1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1319251	NM_001130145.3(YAP1):c.1A>C (p.Met1Leu)	YAP1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2642315	NM_001130145.3(YAP1):c.11G>A (p.Gly4Glu)	YAP1 (G4E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421219	NM_001130145.3(YAP1):c.20C>T (p.Pro7Leu)	YAP1 (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711380	NM_001130145.3(YAP1):c.21G>A (p.Pro7=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2172633	NM_001130145.3(YAP1):c.33G>T (p.Pro11=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191401	NM_001130145.3(YAP1):c.50G>T (p.Gly17Val)	YAP1 (G17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637737	NM_001130145.3(YAP1):c.62C>T (p.Ser21Leu)	YAP1 (S21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2955513	NM_001130145.3(YAP1):c.69C>T (p.Pro23=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191403	NM_001130145.3(YAP1):c.86C>A (p.Pro29Gln)	YAP1 (P29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 591538	NM_001130145.3(YAP1):c.115_144dup (p.Ala39_Pro48dup)	YAP1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2884801	NM_001130145.3(YAP1):c.129_140del (p.Ala44_Ala47del)	YAP1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 727889	NM_001130145.3(YAP1):c.144C>T (p.Pro48=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333617	NM_001130145.3(YAP1):c.146C>G (p.Pro49Arg)	YAP1 (P49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2868775	NM_001130145.3(YAP1):c.160A>C (p.Ile54Leu)	YAP1 (I54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931285	NM_001130145.3(YAP1):c.163G>T (p.Val55Leu)	YAP1 (V55L)	Single nucleotide variant (missense variant)	Uveal coloboma-cleft lip and palate-intellectual disability	GUncertain significance
Select item 725467	NM_001130145.3(YAP1):c.204C>G (p.Leu68=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319250	NM_001130145.3(YAP1):c.236A>G (p.Asn79Ser)	YAP1 (N79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897928	NM_001130145.3(YAP1):c.243C>T (p.Pro81=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3333615	NM_001130145.3(YAP1):c.250G>T (p.Val84Leu)	YAP1 (V84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686307	NM_001130145.3(YAP1):c.257T>C (p.Met86Thr)	YAP1 (M86T)	Single nucleotide variant (missense variant)	Uveal coloboma-cleft lip and palate-intellectual disability	GPathogenic
Select item 2900514	NM_001130145.3(YAP1):c.283TTC[1] (p.Phe96del)	YAP1 (F96del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2326483	NM_001130145.3(YAP1):c.305A>T (p.Lys102Ile)	YAP1 (K102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634825	NM_001130145.3(YAP1):c.313T>C (p.Ser105Pro)	YAP1 (S105P)	Single nucleotide variant (missense variant)	YAP1-related disorder +2 more	GUncertain significance
Select item 726526	NM_001130145.3(YAP1):c.316C>A (p.Arg106=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044203	NM_001130145.3(YAP1):c.321+8C>T	YAP1	Single nucleotide variant (intron variant)	YAP1-related disorder	GLikely benign
Select item 1287936	NM_001130145.3(YAP1):c.322-247C>T	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274182	NM_001130145.3(YAP1):c.322-157A>G	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 761281	NM_001130145.3(YAP1):c.352C>T (p.Leu118=)	YAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2143467	NM_001130145.3(YAP1):c.355A>G (p.Thr119Ala)	YAP1 (T119A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 120326	NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)	YAP1 (R124*)	Single nucleotide variant (nonsense +1 more)	Congenital ocular coloboma	GPathogenic
Select item 3333618	NM_001130145.3(YAP1):c.433A>G (p.Thr145Ala)	YAP1 (T145A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271317	NM_001130145.3(YAP1):c.434C>G (p.Thr145Ser)	YAP1 (T145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773013	NM_001130145.3(YAP1):c.465C>G (p.Pro155=)	YAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2897230	NM_001130145.3(YAP1):c.474G>A (p.Gln158=)	YAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 800330	NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys)	YAP1 (S163C)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 1278307	NM_001130145.3(YAP1):c.572+177C>T	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58187	GRCh38/hg38 11q22.1-22.2(chr11:102130109-102368261)x3	BIRC2, BIRC3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2713761	NM_001130145.3(YAP1):c.579C>T (p.Ile193=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007045	NM_001130145.3(YAP1):c.598C>T (p.Gln200Ter)	YAP1 (Q22* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2241590	NM_001130145.3(YAP1):c.634G>C (p.Val212Leu)	YAP1 (V34L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245370	NM_001130145.3(YAP1):c.638C>A (p.Thr213Lys)	YAP1 (T35K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333616	NM_001130145.3(YAP1):c.647C>G (p.Thr216Ser)	YAP1 (T216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198217	NM_001130145.3(YAP1):c.680C>T (p.Ser227Leu)	YAP1 (S49L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 770772	NM_001130145.3(YAP1):c.689-9G>T	YAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206098	NM_001130145.3(YAP1):c.689-4A>T	YAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3346282	NM_001130145.3(YAP1):c.739dup (p.Tyr247fs)	YAP1 (Y247fs +1 more)	Duplication (frameshift variant +1 more)	YAP1-related disorder	GUncertain significance
Select item 988078	NM_001130145.3(YAP1):c.761A>G (p.Lys254Arg)	YAP1 (K254R +1 more)	Single nucleotide variant (missense variant +1 more)	Uveal coloboma-cleft lip and palate-intellectual disability	GUncertain significance
Select item 1033314	NM_001130145.3(YAP1):c.770C>T (p.Ser257Phe)	YAP1 (S257F +1 more)	Single nucleotide variant (missense variant +1 more)	Uveal coloboma-cleft lip and palate-intellectual disability	GUncertain significance
Select item 1286771	NM_001130145.3(YAP1):c.802+206C>A	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1939414	NM_001130145.3(YAP1):c.803-13dup	YAP1	Duplication (intron variant)	not provided	GLikely benign
Select item 802714	NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser)	YAP1 (P100S +2 more)	Single nucleotide variant (missense variant)	Uveal coloboma-cleft lip and palate-intellectual disability +1 more	GLikely benign
Select item 2107478	NM_001130145.3(YAP1):c.862C>T (p.Gln288Ter)	YAP1 (Q250* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3059192	NM_001130145.3(YAP1):c.879C>T (p.Gly293=)	YAP1	Single nucleotide variant (synonymous variant)	YAP1-related disorder	GLikely benign
Select item 3333619	NM_001130145.3(YAP1):c.894C>A (p.Ser298Arg)	YAP1 (S260R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784203	NM_001130145.3(YAP1):c.896A>G (p.Asn299Ser)	YAP1 (N299S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2168977	NM_001130145.3(YAP1):c.901A>C (p.Asn301His)	YAP1 (N263H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746169	NM_001130145.3(YAP1):c.984+10C>T	YAP1 (Q332* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 1290455	NM_001130145.3(YAP1):c.985-262G>A	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1641661	NM_001130145.3(YAP1):c.985-20G>A	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 717444	NM_001130145.3(YAP1):c.991C>T (p.Arg331Trp)	YAP1 (R293W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2593962	NM_001130145.3(YAP1):c.1004C>T (p.Pro335Leu)	YAP1 (P335L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 972027	NM_001130145.3(YAP1):c.1015A>G (p.Asn339Asp)	YAP1 (N161D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1175805	NM_001130145.3(YAP1):c.1024A>G (p.Lys342Glu)	YAP1 (K164E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 120327	NM_001130145.3(YAP1):c.1066G>T (p.Glu356Ter)	YAP1 (E356* +8 more)	Single nucleotide variant (nonsense)	Uveal coloboma-cleft lip and palate-intellectual disability	GPathogenic
Select item 789314	NM_001130145.3(YAP1):c.1104C>T (p.Pro368=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 982760	NM_001130145.3(YAP1):c.1196_1199del (p.Asp399fs)	YAP1 (D221fs +8 more)	Microsatellite (frameshift variant)	Uveal coloboma-cleft lip and palate-intellectual disability	GLikely pathogenic
Select item 2642316	NM_001130145.3(YAP1):c.1245C>T (p.Asp415=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1248424	NM_001130145.3(YAP1):c.1276+42G>C	YAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3339910	NM_001130145.3(YAP1):c.1277-16TG[2]	YAP1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 778560	NM_001130145.3(YAP1):c.1277-4C>T	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722492	NM_001130145.3(YAP1):c.1354A>G (p.Asn452Asp)	YAP1 (N402D +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3191400	NM_001130145.3(YAP1):c.1404G>T (p.Glu468Asp)	YAP1 (E468D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642317	NM_001130145.3(YAP1):c.1416A>G (p.Pro472=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2474847	NM_001130145.3(YAP1):c.1418G>C (p.Ser473Thr)	YAP1 (S435T +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244740	NC_000011.9:g.(?_101918202)_(102076825_?)del	CFAP300, YAP1	Deletion	not provided	GUncertain significance
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 442680	GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1	ANGPTL5, ARHGAP42 +29 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 253931	GRCh37/hg19 11q22.1-22.2(chr11:102064452-102249344)x3	YAP1, BIRC2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253779	GRCh37/hg19 11q22.1(chr11:101450649-102064511)x3	YAP1, CEP126 +3 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 100