23047[Gene ID] - 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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 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 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +203 more	Copy number loss	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +211 more	Copy number gain	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	LINC00426, LINC00427 +118 more	Copy number loss	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	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 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 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 149765	GRCh38/hg38 13q13.1(chr13:32352101-32823614)x1	BRCA2, LINC00423 +20 more	Copy number loss	See cases	GPathogenic
Select item 152237	GRCh38/hg38 13q13.1(chr13:32363156-32634280)x3	BRCA2, LOC112163653 +15 more	Copy number gain	See cases	GUncertain significance
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 2637959	NM_015032.4(PDS5B):c.313G>T (p.Asp105Tyr)	PDS5B (D105Y)	Single nucleotide variant (missense variant)	PDS5B-related developmental disorder	GUncertain significance
Select item 2247481	NM_015032.4(PDS5B):c.550A>G (p.Ile184Val)	PDS5B (I184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606369	NM_015032.4(PDS5B):c.630A>C (p.Leu210Phe)	PDS5B (L210F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774218	NM_015032.4(PDS5B):c.852T>C (p.Asn284=)	PDS5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211093	NM_015032.4(PDS5B):c.947A>C (p.Gln316Pro)	PDS5B (Q316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507482	NM_015032.4(PDS5B):c.1228A>C (p.Met410Leu)	PDS5B (M410L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327623	NM_015032.4(PDS5B):c.1324C>T (p.His442Tyr)	PDS5B (H442Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289777	NM_015032.4(PDS5B):c.1325A>G (p.His442Arg)	PDS5B (H442R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711580	NM_015032.4(PDS5B):c.1411A>G (p.Thr471Ala)	PDS5B (T471A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3211079	NM_015032.4(PDS5B):c.1428C>G (p.Cys476Trp)	PDS5B (C476W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273582	NM_015032.4(PDS5B):c.1520A>G (p.Lys507Arg)	PDS5B (K507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487342	NM_015032.4(PDS5B):c.1705C>G (p.Pro569Ala)	PDS5B (P569A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474232	NM_015032.4(PDS5B):c.1726G>T (p.Ala576Ser)	PDS5B (A576S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476518	NM_015032.4(PDS5B):c.1846G>A (p.Glu616Lys)	PDS5B (E616K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548996	NM_015032.4(PDS5B):c.1897G>A (p.Ala633Thr)	PDS5B (A633T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155074	GRCh38/hg38 13q13.1-13.2(chr13:32709960-33487709)x3	KL, LINC00423 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2643732	NM_015032.4(PDS5B):c.2016A>G (p.Ser672=)	PDS5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551943	NM_015032.4(PDS5B):c.2126C>T (p.Ala709Val)	PDS5B (A709V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211080	NM_015032.4(PDS5B):c.2221G>A (p.Glu741Lys)	PDS5B (E741K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588765	NM_015032.4(PDS5B):c.2255A>T (p.His752Leu)	PDS5B (H752L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486510	NM_015032.4(PDS5B):c.2260A>T (p.Ser754Cys)	PDS5B (S754C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205581	NM_015032.4(PDS5B):c.2308A>G (p.Ile770Val)	PDS5B (I770V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463869	NM_015032.4(PDS5B):c.2467A>G (p.Met823Val)	PDS5B (M823V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211082	NM_015032.4(PDS5B):c.2569A>G (p.Ile857Val)	PDS5B (I857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350516	NM_015032.4(PDS5B):c.2656A>G (p.Ile886Val)	PDS5B (I886V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509331	NM_015032.4(PDS5B):c.2731A>G (p.Ile911Val)	PDS5B (I911V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211083	NM_015032.4(PDS5B):c.2794C>T (p.Arg932Cys)	PDS5B (R932C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301035	NM_015032.4(PDS5B):c.2887G>A (p.Val963Met)	PDS5B (V963M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305608	NM_015032.4(PDS5B):c.2986A>G (p.Ile996Val)	PDS5B (I996V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211084	NM_015032.4(PDS5B):c.3125A>G (p.Lys1042Arg)	PDS5B (K1042R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465495	NM_015032.4(PDS5B):c.3274G>A (p.Val1092Ile)	PDS5B (V1092I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211085	NM_015032.4(PDS5B):c.3305A>G (p.Asp1102Gly)	PDS5B (D1102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533029	NM_015032.4(PDS5B):c.3374C>T (p.Pro1125Leu)	PDS5B (P1125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211086	NM_015032.4(PDS5B):c.3428A>G (p.Lys1143Arg)	PDS5B (K1143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245940	NM_015032.4(PDS5B):c.3603A>C (p.Arg1201Ser)	PDS5B (R1201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226345	NM_015032.4(PDS5B):c.3604G>C (p.Asp1202His)	PDS5B (D1202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790868	NM_015032.4(PDS5B):c.3606C>T (p.Asp1202=)	PDS5B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2347694	NM_015032.4(PDS5B):c.3659C>A (p.Thr1220Lys)	PDS5B (T1220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211087	NM_015032.4(PDS5B):c.3664G>A (p.Val1222Ile)	PDS5B (V1222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211534	NM_015032.4(PDS5B):c.3743G>A (p.Arg1248Gln)	PDS5B (R1248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305609	NM_015032.4(PDS5B):c.3758G>A (p.Gly1253Asp)	PDS5B (G1253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335374	NM_015032.4(PDS5B):c.3821T>C (p.Ile1274Thr)	PDS5B (I1274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315810	NM_015032.4(PDS5B):c.3822A>G (p.Ile1274Met)	PDS5B (I1274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617296	NM_015032.4(PDS5B):c.3860A>G (p.Lys1287Arg)	PDS5B (K1287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225307	NM_015032.4(PDS5B):c.3908A>G (p.Lys1303Arg)	PDS5B (K1303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297205	NM_015032.4(PDS5B):c.3950A>G (p.Lys1317Arg)	PDS5B (K1317R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211088	NM_015032.4(PDS5B):c.4010C>G (p.Thr1337Arg)	PDS5B (T1337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211089	NM_015032.4(PDS5B):c.4014A>C (p.Glu1338Asp)	PDS5B (E1338D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496002	NM_015032.4(PDS5B):c.4029C>G (p.Ser1343Arg)	PDS5B (S1343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604391	NM_015032.4(PDS5B):c.4106C>G (p.Ser1369Cys)	PDS5B (S1369C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490805	NM_015032.4(PDS5B):c.4150C>T (p.Pro1384Ser)	PDS5B (P1384S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385733	NM_015032.4(PDS5B):c.4171G>A (p.Val1391Ile)	PDS5B (V1391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354695	NM_015032.4(PDS5B):c.4174C>T (p.Arg1392Cys)	PDS5B (R1392C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372457	NM_015032.4(PDS5B):c.4183C>T (p.Arg1395Cys)	PDS5B (R1395C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211090	NM_015032.4(PDS5B):c.4196C>G (p.Ala1399Gly)	PDS5B (A1399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211091	NM_015032.4(PDS5B):c.4225G>C (p.Glu1409Gln)	PDS5B (E1409Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483209	NM_015032.4(PDS5B):c.4292A>G (p.Glu1431Gly)	PDS5B (E1431G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211092	NM_015032.4(PDS5B):c.4300A>G (p.Thr1434Ala)	PDS5B (T1434A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643733	NM_015032.4(PDS5B):c.4308T>C (p.Asn1436=)	PDS5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 2684699	GRCh37/hg19 13q13.1(chr13:33014364-33229361)x3	N4BP2L2, PDS5B	Copy number gain	not provided	GUncertain significance
Select item 2425229	NC_000013.10:g.(?_31033232)_(33638323_?)dup	ALOX5AP, B3GLCT +13 more	Duplication	not provided	GUncertain significance
Select item 1810291	GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3	B3GLCT, BRCA2 +12 more	Copy number gain	not provided	Gnot provided
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 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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	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 1180526	GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1	ALOX5AP, B3GLCT +22 more	Copy number loss	not provided	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic

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