ClinVar for Gene (Select 5101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342134	NM_203487.3(PCDH9):c.594A>G (p.Gly198=)	PCDH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3304639	NM_203487.3(PCDH9):c.2953T>C (p.Ser985Pro)	PCDH9 (S985P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304638	NM_203487.3(PCDH9):c.1201T>A (p.Cys401Ser)	PCDH9 (C401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304637	NM_203487.3(PCDH9):c.2854C>T (p.Pro952Ser)	PCDH9 (P952S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304636	NM_203487.3(PCDH9):c.1409A>G (p.Asn470Ser)	PCDH9 (N470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304635	NM_203487.3(PCDH9):c.3271G>A (p.Asp1091Asn)	PCDH9 (D1015N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304634	NM_203487.3(PCDH9):c.3361G>C (p.Gly1121Arg)	PCDH9, PCDH9-AS1 (G1121R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304633	NM_203487.3(PCDH9):c.3145C>T (p.Arg1049Cys)	PCDH9 (R1015C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304632	NM_203487.3(PCDH9):c.1823C>G (p.Thr608Ser)	PCDH9 (T608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304631	NM_203487.3(PCDH9):c.3097A>G (p.Thr1033Ala)	PCDH9, PCDH9-AS2 (T1033A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3209267	NM_203487.3(PCDH9):c.938C>A (p.Thr313Lys)	PCDH9 (T313K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209266	NM_203487.3(PCDH9):c.863G>A (p.Arg288Gln)	PCDH9 (R288Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209265	NM_203487.3(PCDH9):c.829A>G (p.Thr277Ala)	PCDH9 (T277A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209264	NM_203487.3(PCDH9):c.430T>C (p.Ser144Pro)	PCDH9 (S144P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209262	NM_203487.3(PCDH9):c.3511G>C (p.Asp1171His)	PCDH9, PCDH9-AS1 (D1137H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209261	NM_203487.3(PCDH9):c.3461C>T (p.Pro1154Leu)	PCDH9, PCDH9-AS1 (P1154L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209260	NM_203487.3(PCDH9):c.2835G>T (p.Gln945His)	PCDH9 (Q945H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209259	NM_203487.3(PCDH9):c.2661C>G (p.Ile887Met)	PCDH9 (I887M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209258	NM_203487.3(PCDH9):c.254T>G (p.Ile85Ser)	PCDH9 (I85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209257	NM_203487.3(PCDH9):c.2086G>A (p.Val696Met)	PCDH9 (V696M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209256	NM_203487.3(PCDH9):c.1247A>G (p.Asp416Gly)	PCDH9 (D416G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209255	NM_203487.3(PCDH9):c.1177A>G (p.Thr393Ala)	PCDH9 (T393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209254	NM_203487.3(PCDH9):c.1021C>G (p.Arg341Gly)	PCDH9 (R341G)	Single nucleotide variant (missense variant)	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 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 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 3062344	GRCh38/hg38 13q21.32(chr13:65630901-67257385)	LINC01052, LOC110120945 +13 more	Copy number gain	Epilepsy syndrome	GUncertain significance
Select item 3061631	NM_203487.3(PCDH9):c.2142G>A (p.Lys714=)	PCDH9	Single nucleotide variant (synonymous variant)	PCDH9-related disorder	GLikely benign
Select item 3047653	NM_203487.3(PCDH9):c.1848T>G (p.Asp616Glu)	PCDH9 (D616E)	Single nucleotide variant (missense variant)	PCDH9-related disorder	GLikely benign
Select item 3032070	NM_203487.3(PCDH9):c.3036+23C>A	PCDH9 (S1020Y)	Single nucleotide variant (missense variant +1 more)	PCDH9-related disorder	GUncertain significance
Select item 3025846	NM_203487.3(PCDH9):c.1002C>T (p.Asp334=)	PCDH9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024693	NM_203487.3(PCDH9):c.3296C>T (p.Pro1099Leu)	PCDH9 (P1023L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685470	GRCh37/hg19 13q21.32(chr13:66543803-67157862)x1	PCDH9	Copy number loss	not provided	GUncertain significance
Select item 2684704	GRCh37/hg19 13q21.2-21.32(chr13:62280955-67477774)x3	PCDH9	Copy number gain	not provided	GUncertain significance
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2643837	NM_203487.3(PCDH9):c.3051C>A (p.Ser1017Arg)	PCDH9, PCDH9-AS2 (S1017R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643836	NM_203487.3(PCDH9):c.3627C>A (p.Ser1209Arg)	PCDH9, PCDH9-AS1 (S1133R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2635357	NM_203487.3(PCDH9):c.2464G>C (p.Gly822Arg)	PCDH9 (G822R)	Single nucleotide variant (missense variant)	PCDH9-related disorder	GUncertain significance
Select item 2631154	NM_203487.3(PCDH9):c.2374A>G (p.Met792Val)	PCDH9 (M792V)	Single nucleotide variant (missense variant)	PCDH9-related disorder	GUncertain significance
Select item 2631068	NM_203487.3(PCDH9):c.3295C>T (p.Pro1099Ser)	PCDH9 (P1023S +3 more)	Single nucleotide variant (missense variant)	PCDH9-related disorder	GUncertain significance
Select item 2624359	NM_203487.3(PCDH9):c.1903A>G (p.Arg635Gly)	PCDH9 (R635G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558219	NM_203487.3(PCDH9):c.3098C>T (p.Thr1033Met)	PCDH9, PCDH9-AS2 (T1033M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547054	NM_203487.3(PCDH9):c.2472G>A (p.Met824Ile)	PCDH9 (M824I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492613	NM_203487.3(PCDH9):c.433C>T (p.Pro145Ser)	PCDH9 (P145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479630	NM_203487.3(PCDH9):c.3488C>T (p.Pro1163Leu)	PCDH9, PCDH9-AS1 (P1087L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478476	NM_203487.3(PCDH9):c.1421T>C (p.Ile474Thr)	PCDH9 (I474T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476204	NM_203487.3(PCDH9):c.2612G>A (p.Arg871Lys)	PCDH9 (R871K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386317	NM_203487.3(PCDH9):c.167C>T (p.Thr56Ile)	PCDH9 (T56I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385420	NM_203487.3(PCDH9):c.1922A>G (p.Tyr641Cys)	PCDH9 (Y641C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384065	NM_203487.3(PCDH9):c.3482T>G (p.Phe1161Cys)	PCDH9, PCDH9-AS1 (F1127C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382963	NM_203487.3(PCDH9):c.1943C>T (p.Thr648Ile)	PCDH9 (T648I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370209	NM_203487.3(PCDH9):c.2366G>A (p.Arg789His)	PCDH9 (R789H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332950	NM_203487.3(PCDH9):c.2053A>C (p.Lys685Gln)	PCDH9 (K685Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332802	NM_203487.3(PCDH9):c.2683G>A (p.Ala895Thr)	PCDH9 (A895T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329028	NM_203487.3(PCDH9):c.806C>T (p.Thr269Ile)	PCDH9 (T269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326944	NM_203487.3(PCDH9):c.2830C>A (p.Pro944Thr)	PCDH9 (P944T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300635	NM_203487.3(PCDH9):c.1583G>C (p.Arg528Thr)	PCDH9 (R528T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297399	NM_203487.3(PCDH9):c.602G>C (p.Trp201Ser)	PCDH9 (W201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293386	NM_203487.3(PCDH9):c.3553G>C (p.Glu1185Gln)	PCDH9, PCDH9-AS1 (E1143Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278952	NM_203487.3(PCDH9):c.3634A>G (p.Thr1212Ala)	PCDH9, PCDH9-AS1 (T1136A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278463	NM_203487.3(PCDH9):c.2023G>A (p.Val675Ile)	PCDH9 (V675I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272742	NM_203487.3(PCDH9):c.1807G>A (p.Glu603Lys)	PCDH9 (E603K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262757	NM_203487.3(PCDH9):c.2846A>C (p.His949Pro)	PCDH9 (H949P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262685	NM_203487.3(PCDH9):c.3505A>G (p.Lys1169Glu)	PCDH9, PCDH9-AS1 (K1127E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235508	NM_203487.3(PCDH9):c.268A>G (p.Asn90Asp)	PCDH9 (N90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234289	NM_203487.3(PCDH9):c.2824G>A (p.Ala942Thr)	PCDH9 (A942T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226352	NM_203487.3(PCDH9):c.3098C>A (p.Thr1033Lys)	PCDH9, PCDH9-AS2 (T1033K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211375	NM_203487.3(PCDH9):c.866A>T (p.Tyr289Phe)	PCDH9 (Y289F)	Single nucleotide variant (missense variant)	not specified	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 1527779	GRCh37/hg19 13q21.31-21.33(chr13:63311033-68892738)	PCDH9	Copy number loss	not specified	GUncertain significance
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
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 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 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1338957	NM_203487.3(PCDH9):c.2154G>C (p.Val718=)	PCDH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 816480	GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3	ATXN8OS, BORA +10 more	Copy number gain	See cases	GUncertain significance
Select item 815596	GRCh37/hg19 13q21.32-21.33(chr13:66469055-70013798)x1	PCDH9	Copy number loss	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 780154	NM_203487.3(PCDH9):c.3162T>C (p.His1054=)	PCDH9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687112	GRCh37/hg19 13q21.2-21.32(chr13:62153364-67984114)x1	PCDH9	Copy number loss	not provided	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 564072	GRCh37/hg19 13q21.32-21.33(chr13:66407739-70705524)x3	ATXN8OS, KLHL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564051	GRCh37/hg19 13q21.32(chr13:66219509-67216145)x3	PCDH9	Copy number gain	not provided	GLikely benign
Select item 564019	GRCh37/hg19 13q21.32(chr13:67289765-67562987)x1	PCDH9	Copy number loss	not provided	GUncertain significance
Select item 563997	GRCh37/hg19 13q21.32(chr13:67348782-67434306)x1	PCDH9	Copy number loss	not provided	GUncertain significance
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

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