PCDH20[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 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	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 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 154393	GRCh38/hg38 13q21.1-21.31(chr13:55851510-63770251)x1	LINC00358, LINC00374 +50 more	Copy number loss	See cases	GUncertain significance
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 2312439	NM_022843.4(PCDH20):c.2840A>T (p.Asp947Val)	PCDH20 (D947V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588214	NM_022843.4(PCDH20):c.2831A>T (p.Lys944Met)	PCDH20 (K944M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591824	NM_022843.4(PCDH20):c.2794C>A (p.Leu932Met)	PCDH20 (L932M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463785	NM_022843.4(PCDH20):c.2788A>G (p.Ile930Val)	PCDH20 (I930V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209209	NM_022843.4(PCDH20):c.2711T>C (p.Val904Ala)	PCDH20 (V904A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209208	NM_022843.4(PCDH20):c.2663C>T (p.Pro888Leu)	PCDH20 (P888L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309852	NM_022843.4(PCDH20):c.2645A>G (p.Glu882Gly)	PCDH20 (E882G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304606	NM_022843.4(PCDH20):c.2627C>T (p.Pro876Leu)	PCDH20 (P876L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209207	NM_022843.4(PCDH20):c.2594T>C (p.Ile865Thr)	PCDH20 (I865T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385350	NM_022843.4(PCDH20):c.2560G>A (p.Glu854Lys)	PCDH20 (E854K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209206	NM_022843.4(PCDH20):c.2543G>A (p.Ser848Asn)	PCDH20 (S848N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528281	NM_022843.4(PCDH20):c.2506A>G (p.Thr836Ala)	PCDH20 (T836A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482675	NM_022843.4(PCDH20):c.2440G>A (p.Asp814Asn)	PCDH20 (D814N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304607	NM_022843.4(PCDH20):c.2426C>T (p.Ala809Val)	PCDH20 (A809V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209205	NM_022843.4(PCDH20):c.2424G>C (p.Glu808Asp)	PCDH20 (E808D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510678	NM_022843.4(PCDH20):c.2324G>A (p.Gly775Asp)	PCDH20 (G775D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491686	NM_022843.4(PCDH20):c.2219C>T (p.Pro740Leu)	PCDH20 (P740L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206297	NM_022843.4(PCDH20):c.2177C>G (p.Ala726Gly)	PCDH20 (A726G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308701	NM_022843.4(PCDH20):c.2171C>T (p.Ser724Phe)	PCDH20 (S724F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329122	NM_022843.4(PCDH20):c.2135T>C (p.Val712Ala)	PCDH20 (V712A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605023	NM_022843.4(PCDH20):c.2049T>A (p.Asp683Glu)	PCDH20 (D683E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525206	NM_022843.4(PCDH20):c.2046T>A (p.Ser682Arg)	PCDH20 (S682R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532798	NM_022843.4(PCDH20):c.1961G>A (p.Gly654Asp)	PCDH20 (G654D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591823	NM_022843.4(PCDH20):c.1913G>A (p.Arg638Gln)	PCDH20 (R638Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395164	NM_022843.4(PCDH20):c.1913G>T (p.Arg638Leu)	PCDH20 (R638L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298504	NM_022843.4(PCDH20):c.1712C>T (p.Ser571Leu)	PCDH20 (S571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280962	NM_022843.4(PCDH20):c.1526C>T (p.Ala509Val)	PCDH20 (A509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209202	NM_022843.4(PCDH20):c.1513G>T (p.Val505Leu)	PCDH20 (V505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487035	NM_022843.4(PCDH20):c.1500G>C (p.Gln500His)	PCDH20 (Q500H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300045	NM_022843.4(PCDH20):c.1485G>A (p.Met495Ile)	PCDH20 (M495I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304612	NM_022843.4(PCDH20):c.1447T>C (p.Tyr483His)	PCDH20 (Y483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298431	NM_022843.4(PCDH20):c.1435C>T (p.Pro479Ser)	PCDH20 (P479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280388	NM_022843.4(PCDH20):c.1421C>T (p.Pro474Leu)	PCDH20 (P474L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510668	NM_022843.4(PCDH20):c.1412G>A (p.Gly471Asp)	PCDH20 (G471D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469532	NM_022843.4(PCDH20):c.1402T>C (p.Tyr468His)	PCDH20 (Y468H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304605	NM_022843.4(PCDH20):c.1150A>G (p.Ser384Gly)	PCDH20 (S384G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257212	NM_022843.4(PCDH20):c.1003G>A (p.Val335Met)	PCDH20 (V335M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538264	NM_022843.4(PCDH20):c.988T>C (p.Tyr330His)	PCDH20 (Y330H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550579	NM_022843.4(PCDH20):c.979G>A (p.Val327Ile)	PCDH20 (V327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295487	NM_022843.4(PCDH20):c.967T>C (p.Ser323Pro)	PCDH20 (S323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240455	NM_022843.4(PCDH20):c.922A>T (p.Ile308Phe)	PCDH20 (I308F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532491	NM_022843.4(PCDH20):c.896C>T (p.Pro299Leu)	PCDH20 (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259479	NM_022843.4(PCDH20):c.868A>G (p.Ile290Val)	PCDH20 (I290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304610	NM_022843.4(PCDH20):c.854A>G (p.Gln285Arg)	PCDH20 (Q285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605559	NM_022843.4(PCDH20):c.826G>C (p.Gly276Arg)	PCDH20 (G276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560379	NM_022843.4(PCDH20):c.802C>A (p.Arg268Ser)	PCDH20 (R268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556825	NM_022843.4(PCDH20):c.760G>C (p.Gly254Arg)	PCDH20 (G254R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2275140	NM_022843.4(PCDH20):c.722T>C (p.Ile241Thr)	PCDH20 (I241T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394430	NM_022843.4(PCDH20):c.488G>T (p.Ser163Ile)	PCDH20 (S163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468765	NM_022843.4(PCDH20):c.467G>C (p.Gly156Ala)	PCDH20 (G156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321108	NM_022843.4(PCDH20):c.431C>T (p.Ala144Val)	PCDH20 (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304611	NM_022843.4(PCDH20):c.395C>T (p.Thr132Ile)	PCDH20 (T132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487306	NM_022843.4(PCDH20):c.391G>A (p.Val131Met)	PCDH20 (V131M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546969	NM_022843.4(PCDH20):c.346C>A (p.Pro116Thr)	PCDH20 (P116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357355	NM_022843.4(PCDH20):c.326C>A (p.Thr109Asn)	PCDH20 (T109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395319	NM_022843.4(PCDH20):c.286G>T (p.Ala96Ser)	PCDH20 (A96S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358424	NM_022843.4(PCDH20):c.219C>A (p.Asn73Lys)	PCDH20 (N73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209204	NM_022843.4(PCDH20):c.199G>C (p.Glu67Gln)	PCDH20 (E67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324085	NM_022843.4(PCDH20):c.190C>G (p.Arg64Gly)	PCDH20 (R64G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319217	NM_022843.4(PCDH20):c.139T>C (p.Phe47Leu)	PCDH20 (F47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209201	NM_022843.4(PCDH20):c.113C>T (p.Thr38Ile)	PCDH20 (T38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209212	NM_022843.4(PCDH20):c.70C>T (p.Pro24Ser)	PCDH20 (P24S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280269	NM_022843.4(PCDH20):c.41G>T (p.Gly14Val)	PCDH20 (G14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304609	NM_022843.4(PCDH20):c.35C>A (p.Ala12Asp)	PCDH20 (A12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209211	NM_022843.4(PCDH20):c.32A>G (p.Gln11Arg)	PCDH20 (Q11R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507488	NM_022843.4(PCDH20):c.27C>G (p.Ser9Arg)	PCDH20 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304608	NM_022843.4(PCDH20):c.20C>A (p.Ala7Glu)	PCDH20 (A7E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643833	NM_022843.4(PCDH20):c.2T>C (p.Met1Thr)	PCDH20 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3063298	GRCh37/hg19 13q21.1-21.32(chr13:57279797-65861199)x1	DIAPH3, PCDH17 +7 more	Copy number loss	not specified	GUncertain significance

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