PCDH9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 146271	GRCh38/hg38 13q21.32(chr13:65624103-66552063)x3	LINC01052, LOC110120945 +7 more	Copy number gain	See cases	GLikely benign
Select item 3062344	GRCh38/hg38 13q21.32(chr13:65630901-67257385)	LINC01052, LOC110120945 +13 more	Copy number gain	Epilepsy syndrome	GUncertain significance
Select item 152278	GRCh38/hg38 13q21.32(chr13:65641654-66641601)x3	LINC01052, LOC110120945 +7 more	Copy number gain	See cases	GUncertain significance
Select item 58260	GRCh38/hg38 13q21.32(chr13:65645518-66626184)x3	LINC01052, LOC110120945 +7 more	Copy number gain	See cases	GUncertain significance
Select item 147990	GRCh38/hg38 13q21.32(chr13:65713831-66552063)x3	LINC01052, LOC110120945 +5 more	Copy number gain	See cases	GUncertain significance
Select item 149570	GRCh38/hg38 13q21.32(chr13:65970693-66638069)x3	LOC110120945, LOC124900161 +3 more	Copy number gain	See cases	GUncertain significance
Select item 153172	GRCh38/hg38 13q21.32-21.33(chr13:66118423-70884392)x3	ATXN8OS, KLHL1 +23 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 152622	GRCh38/hg38 13q21.32(chr13:66529771-66592227)x1	LOC124900161, PCDH9	Copy number loss	See cases	Gconflicting data from submitters
Select item 58146	GRCh38/hg38 13q21.32(chr13:66552004-67123174)x1	LOC124900161, LOC126861792 +4 more	Copy number loss	See cases	GUncertain significance
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 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 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 780154	NM_203487.3(PCDH9):c.3162T>C (p.His1054=)	PCDH9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 145868	GRCh38/hg38 13q21.32(chr13:66641542-66825751)x1	PCDH9, PCDH9-AS2	Copy number loss	See cases	GLikely benign
Select item 153140	GRCh38/hg38 13q21.32(chr13:66698285-66929256)x1	PCDH9, PCDH9-AS2	Copy number loss	See cases	GUncertain significance
Select item 145848	GRCh38/hg38 13q21.32(chr13:66733239-66832341)x1	PCDH9, PCDH9-AS2	Copy number loss	See cases	GLikely benign
Select item 153018	GRCh38/hg38 13q21.32(chr13:66753669-66767786)x1	PCDH9	Copy number loss	See cases	GBenign
Select item 145266	GRCh38/hg38 13q21.32(chr13:66753669-66774687)x1	PCDH9	Copy number loss	See cases	GBenign
Select item 153335	GRCh38/hg38 13q21.32(chr13:66786075-67110129)x1	LOC126861792, PCDH9 +3 more	Copy number loss	See cases	GLikely benign
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 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 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 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 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 3304639	NM_203487.3(PCDH9):c.2953T>C (p.Ser985Pro)	PCDH9 (S985P)	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 2262757	NM_203487.3(PCDH9):c.2846A>C (p.His949Pro)	PCDH9 (H949P)	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 2326944	NM_203487.3(PCDH9):c.2830C>A (p.Pro944Thr)	PCDH9 (P944T)	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 2332802	NM_203487.3(PCDH9):c.2683G>A (p.Ala895Thr)	PCDH9 (A895T)	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 2476204	NM_203487.3(PCDH9):c.2612G>A (p.Arg871Lys)	PCDH9 (R871K)	Single nucleotide variant (missense variant)	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 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 2370209	NM_203487.3(PCDH9):c.2366G>A (p.Arg789His)	PCDH9 (R789H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1338957	NM_203487.3(PCDH9):c.2154G>C (p.Val718=)	PCDH9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3209257	NM_203487.3(PCDH9):c.2086G>A (p.Val696Met)	PCDH9 (V696M)	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 2278463	NM_203487.3(PCDH9):c.2023G>A (p.Val675Ile)	PCDH9 (V675I)	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 2385420	NM_203487.3(PCDH9):c.1922A>G (p.Tyr641Cys)	PCDH9 (Y641C)	Single nucleotide variant (missense variant)	not specified	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 3047653	NM_203487.3(PCDH9):c.1848T>G (p.Asp616Glu)	PCDH9 (D616E)	Single nucleotide variant (missense variant)	PCDH9-related disorder	GLikely benign
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 2272742	NM_203487.3(PCDH9):c.1807G>A (p.Glu603Lys)	PCDH9 (E603K)	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 2478476	NM_203487.3(PCDH9):c.1421T>C (p.Ile474Thr)	PCDH9 (I474T)	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 3209256	NM_203487.3(PCDH9):c.1247A>G (p.Asp416Gly)	PCDH9 (D416G)	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 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 3025846	NM_203487.3(PCDH9):c.1002C>T (p.Asp334=)	PCDH9	Single nucleotide variant (synonymous variant)	not provided	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 2211375	NM_203487.3(PCDH9):c.866A>T (p.Tyr289Phe)	PCDH9 (Y289F)	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

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