ClinVar for Gene (Select 27253) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304592	NM_001040429.3(PCDH17):c.2429G>T (p.Arg810Leu)	PCDH17 (R810L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304591	NM_001040429.3(PCDH17):c.440C>T (p.Pro147Leu)	PCDH17 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304590	NM_001040429.3(PCDH17):c.2603G>T (p.Ser868Ile)	PCDH17 (S868I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304589	NM_001040429.3(PCDH17):c.2989A>C (p.Thr997Pro)	PCDH17 (T997P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304588	NM_001040429.3(PCDH17):c.3020A>T (p.Glu1007Val)	PCDH17 (E1007V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304587	NM_001040429.3(PCDH17):c.1205G>C (p.Gly402Ala)	PCDH17 (G402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304586	NM_001040429.3(PCDH17):c.2055C>G (p.Ser685Arg)	PCDH17 (S685R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304585	NM_001040429.3(PCDH17):c.181T>C (p.Ser61Pro)	PCDH17 (S61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234797	NM_001040429.3(PCDH17):c.943G>C (p.Gly315Arg)	PCDH17 (G315R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3209176	NM_001040429.3(PCDH17):c.961G>T (p.Val321Leu)	PCDH17 (V321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209175	NM_001040429.3(PCDH17):c.687C>G (p.Ile229Met)	PCDH17 (I229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209174	NM_001040429.3(PCDH17):c.683A>G (p.Gln228Arg)	PCDH17 (Q228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209173	NM_001040429.3(PCDH17):c.667C>G (p.Arg223Gly)	PCDH17 (R223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209172	NM_001040429.3(PCDH17):c.515C>G (p.Thr172Arg)	PCDH17 (T172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209171	NM_001040429.3(PCDH17):c.494G>C (p.Gly165Ala)	PCDH17 (G165A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209169	NM_001040429.3(PCDH17):c.475C>G (p.Pro159Ala)	PCDH17 (P159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209168	NM_001040429.3(PCDH17):c.2596A>G (p.Met866Val)	PCDH17 (M866V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209167	NM_001040429.3(PCDH17):c.2500A>G (p.Thr834Ala)	PCDH17 (T834A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209166	NM_001040429.3(PCDH17):c.2377A>T (p.Thr793Ser)	PCDH17 (T793S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209165	NM_001040429.3(PCDH17):c.2213G>A (p.Arg738His)	PCDH17 (R738H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209164	NM_001040429.3(PCDH17):c.1892A>T (p.Asn631Ile)	PCDH17 (N631I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209163	NM_001040429.3(PCDH17):c.154G>C (p.Glu52Gln)	PCDH17 (E52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209162	NM_001040429.3(PCDH17):c.1435C>A (p.Leu479Ile)	PCDH17 (L479I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209161	NM_001040429.3(PCDH17):c.1311G>C (p.Glu437Asp)	PCDH17 (E437D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209160	NM_001040429.3(PCDH17):c.1061T>C (p.Val354Ala)	PCDH17 (V354A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063298	GRCh37/hg19 13q21.1-21.32(chr13:57279797-65861199)x1	DIAPH3, PCDH17 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2643830	NM_001040429.3(PCDH17):c.2049G>A (p.Ser683=)	PCDH17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623932	NM_001040429.3(PCDH17):c.412G>C (p.Glu138Gln)	PCDH17 (E138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618991	NM_001040429.3(PCDH17):c.2374G>T (p.Ala792Ser)	PCDH17 (A792S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603085	NM_001040429.3(PCDH17):c.948G>A (p.Met316Ile)	PCDH17 (M316I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588171	NM_001040429.3(PCDH17):c.3136C>A (p.Pro1046Thr)	PCDH17 (P1046T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568379	NM_001040429.3(PCDH17):c.2428C>G (p.Arg810Gly)	PCDH17 (R810G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539717	NM_001040429.3(PCDH17):c.691G>T (p.Val231Leu)	PCDH17 (V231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536521	NM_001040429.3(PCDH17):c.3326G>A (p.Arg1109Gln)	PCDH17 (R1109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530689	NM_001040429.3(PCDH17):c.1689G>T (p.Leu563Phe)	PCDH17 (L563F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508569	NM_001040429.3(PCDH17):c.1189A>G (p.Thr397Ala)	PCDH17 (T397A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496187	NM_001040429.3(PCDH17):c.901G>A (p.Gly301Ser)	PCDH17 (G301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493331	NM_001040429.3(PCDH17):c.2284A>G (p.Ile762Val)	PCDH17 (I762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461053	NM_001040429.3(PCDH17):c.631C>T (p.Leu211Phe)	PCDH17 (L211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412290	NM_001040429.3(PCDH17):c.185G>A (p.Gly62Asp)	PCDH17 (G62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407422	NM_001040429.3(PCDH17):c.1136G>C (p.Arg379Pro)	PCDH17 (R379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398418	NM_001040429.3(PCDH17):c.2288A>G (p.Asn763Ser)	PCDH17 (N763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384208	NM_001040429.3(PCDH17):c.3167G>A (p.Gly1056Asp)	PCDH17 (G1056D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363887	NM_001040429.3(PCDH17):c.1054G>C (p.Gly352Arg)	PCDH17 (G352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336110	NM_001040429.3(PCDH17):c.119G>T (p.Arg40Met)	PCDH17 (R40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320099	NM_001040429.3(PCDH17):c.2227C>G (p.Arg743Gly)	PCDH17 (R743G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305404	NM_001040429.3(PCDH17):c.2392T>C (p.Phe798Leu)	PCDH17 (F798L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283592	NM_001040429.3(PCDH17):c.2965A>T (p.Thr989Ser)	PCDH17 (T989S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282751	NM_001040429.3(PCDH17):c.2908C>A (p.Arg970Ser)	PCDH17 (R970S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274225	NM_001040429.3(PCDH17):c.484G>A (p.Gly162Ser)	PCDH17 (G162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271140	NM_001040429.3(PCDH17):c.217C>T (p.His73Tyr)	PCDH17 (H73Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267241	NM_001040429.3(PCDH17):c.3375C>G (p.Asn1125Lys)	PCDH17 (N1125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265502	NM_001040429.3(PCDH17):c.2336C>T (p.Ala779Val)	PCDH17 (A779V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257322	NM_001040429.3(PCDH17):c.565G>C (p.Gly189Arg)	PCDH17 (G189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253766	NM_001040429.3(PCDH17):c.1060G>A (p.Val354Ile)	PCDH17 (V354I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250237	NM_001040429.3(PCDH17):c.1750G>C (p.Val584Leu)	PCDH17 (V584L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245632	NM_001040429.3(PCDH17):c.2149A>G (p.Ile717Val)	PCDH17 (I717V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240837	NM_001040429.3(PCDH17):c.1348C>T (p.Pro450Ser)	PCDH17 (P450S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235604	NM_001040429.3(PCDH17):c.94G>C (p.Gly32Arg)	PCDH17 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235398	NM_001040429.3(PCDH17):c.408G>T (p.Gln136His)	PCDH17 (Q136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231233	NM_001040429.3(PCDH17):c.2282A>T (p.Lys761Met)	PCDH17 (K761M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227211	NM_001040429.3(PCDH17):c.92C>T (p.Ala31Val)	PCDH17 (A31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809408	GRCh37/hg19 13q21.1-21.31(chr13:56897737-64074025)x1	DIAPH3, PCDH17 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527776	GRCh37/hg19 13q21.1(chr13:58288521-58432447)	PCDH17	Copy number loss	not specified	GUncertain significance
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340744	GRCh37/hg19 13q21.1-21.2(chr13:56995788-59674029)x3	PCDH17, PRR20A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 979372	GRCh37/hg19 13q14.3-21.1(chr13:55143754-58453133)x3	PRR20B, PRR20C +4 more	Copy number gain	not provided	GUncertain significance
Select item 815592	GRCh37/hg19 13q21.1-21.2(chr13:56995787-59674029)x3	PRR20B, PRR20A +4 more	Copy number gain	not provided	GUncertain significance
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 638128	GRCh37/hg19 13q14.3-21.31(chr13:54638436-63254336)x3	DIAPH3, PCDH17 +7 more	Copy number gain	See cases	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564080	GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3	ALG11, ATP7B +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 564073	GRCh37/hg19 13q21.1-21.2(chr13:55639124-60081983)x1	PRR20A, PRR20C +4 more	Copy number loss	not provided	GUncertain significance
Select item 564063	GRCh37/hg19 13q21.1(chr13:56519744-58546632)x1	PRR20E, PRR20C +4 more	Copy number loss	not provided	GLikely benign
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 more	Copy number loss	See cases	GPathogenic
Select item 394565	GRCh37/hg19 13q21.1-21.33(chr13:56987542-69758302)x3	DIAPH3, PCDH17 +8 more	Copy number gain	See cases	GPathogenic

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