ClinVar for Gene (Select 10413) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059192	NM_001130145.3(YAP1):c.879C>T (p.Gly293=)	YAP1	Single nucleotide variant (synonymous variant)	YAP1-related condition	GLikely benign
Select item 3044203	NM_001130145.3(YAP1):c.321+8C>T	YAP1	Single nucleotide variant (intron variant)	YAP1-related condition	GLikely benign
Select item 2955513	NM_001130145.3(YAP1):c.69C>T (p.Pro23=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900514	NM_001130145.3(YAP1):c.283TTC[1] (p.Phe96del)	YAP1 (F96del)	Microsatellite (inframe_deletion)	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 2897230	NM_001130145.3(YAP1):c.474G>A (p.Gln158=)	YAP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2884801	NM_001130145.3(YAP1):c.129_140del (p.Ala44_Ala47del)	YAP1	Deletion (inframe_deletion)	YAP1-related condition +1 more	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 2713761	NM_001130145.3(YAP1):c.579C>T (p.Ile193=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2642317	NM_001130145.3(YAP1):c.1416A>G (p.Pro472=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2642316	NM_001130145.3(YAP1):c.1245C>T (p.Asp415=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2637737	NM_001130145.3(YAP1):c.62C>T (p.Ser21Leu)	YAP1 (S21L)	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)	not provided +1 more	GUncertain significance
Select item 2593962	NM_001130145.3(YAP1):c.1004C>T (p.Pro335Leu)	YAP1 (P335L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474847	NM_001130145.3(YAP1):c.1418G>C (p.Ser473Thr)	YAP1 (S435T +8 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	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 2326483	NM_001130145.3(YAP1):c.305A>T (p.Lys102Ile)	YAP1 (K102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271317	NM_001130145.3(YAP1):c.434C>G (p.Thr145Ser)	YAP1 (T145S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245370	NM_001130145.3(YAP1):c.638C>A (p.Thr213Lys)	YAP1 (T35K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241590	NM_001130145.3(YAP1):c.634G>C (p.Val212Leu)	YAP1 (V34L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2172633	NM_001130145.3(YAP1):c.33G>T (p.Pro11=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2107478	NM_001130145.3(YAP1):c.862C>T (p.Gln288Ter)	YAP1 (Q250* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1939414	NM_001130145.3(YAP1):c.803-13dup	YAP1	Duplication (intron variant)	not provided	GLikely benign
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	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
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 1641661	NM_001130145.3(YAP1):c.985-20G>A	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
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	PCSK7, PGR +183 more	Copy number loss	not provided	GUncertain significance
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 1319250	NM_001130145.3(YAP1):c.236A>G (p.Asn79Ser)	YAP1 (N79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290455	NM_001130145.3(YAP1):c.985-262G>A	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287936	NM_001130145.3(YAP1):c.322-247C>T	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286771	NM_001130145.3(YAP1):c.802+206C>A	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278307	NM_001130145.3(YAP1):c.572+177C>T	YAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278207	NM_001130145.3(YAP1):c.-303T>C	YAP1	Single nucleotide variant (5 prime UTR 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 1248424	NM_001130145.3(YAP1):c.1276+42G>C	YAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1206098	NM_001130145.3(YAP1):c.689-4A>T	YAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	PIH1D2, PIWIL4 +95 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
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 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
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 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 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 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 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 +2 more	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 789314	NM_001130145.3(YAP1):c.1104C>T (p.Pro368=)	YAP1	Single nucleotide variant (synonymous variant)	YAP1-related condition +1 more	GBenign/Likely benign
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 778560	NM_001130145.3(YAP1):c.1277-4C>T	YAP1	Single nucleotide variant (intron variant)	YAP1-related condition +1 more	GBenign
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 770772	NM_001130145.3(YAP1):c.689-9G>T	YAP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 746169	NM_001130145.3(YAP1):c.984+10C>T	YAP1 (Q332* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 727889	NM_001130145.3(YAP1):c.144C>T (p.Pro48=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726526	NM_001130145.3(YAP1):c.316C>A (p.Arg106=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725467	NM_001130145.3(YAP1):c.204C>G (p.Leu68=)	YAP1	Single nucleotide variant (synonymous variant)	YAP1-related condition +1 more	GLikely benign
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 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 711380	NM_001130145.3(YAP1):c.21G>A (p.Pro7=)	YAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 591538	NM_001130145.3(YAP1):c.115_144dup (p.Ala39_Pro48dup)	YAP1	Duplication (inframe_insertion)	not provided	GUncertain significance
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 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +96 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
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	AASDHPPT, ACAT1 +387 more	Copy number loss	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 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	ANGPTL5, ARHGAP42 +149 more	Copy number loss	See cases	GPathogenic
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 120326	NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)	YAP1 (R124*)	Single nucleotide variant (nonsense +1 more)	Congenital ocular coloboma	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	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 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58187	GRCh38/hg38 11q22.1-22.2(chr11:102130109-102368261)x3	BIRC2, BIRC3 +11 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 89