20482[HGNC] - ClinVar

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Items: 95

	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 145022	GRCh38/hg38 13q14.3(chr13:51576735-51698516)x3	LOC124900146, LOC130009826 +3 more	Copy number gain	See cases	GBenign
Select item 3332635	NM_052950.4(WDFY2):c.38A>G (p.Lys13Arg)	WDFY2 (K13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411895	NM_052950.4(WDFY2):c.58A>T (p.Met20Leu)	WDFY2 (M20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332630	NM_052950.4(WDFY2):c.68C>T (p.Ser23Phe)	WDFY2 (S23F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486816	NM_052950.4(WDFY2):c.123C>A (p.Ser41Arg)	WDFY2 (S41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549554	NM_052950.4(WDFY2):c.128C>T (p.Ser43Phe)	WDFY2 (S43F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238075	NM_052950.4(WDFY2):c.146G>A (p.Arg49His)	WDFY2 (R49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401417	NM_052950.4(WDFY2):c.163G>C (p.Asp55His)	WDFY2 (D55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299826	NM_052950.4(WDFY2):c.185G>A (p.Ser62Asn)	WDFY2 (S62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189719	NM_052950.4(WDFY2):c.224C>G (p.Ser75Cys)	WDFY2 (S75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291093	NM_052950.4(WDFY2):c.229A>G (p.Asn77Asp)	WDFY2 (N77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 3332634	NM_052950.4(WDFY2):c.368T>C (p.Val123Ala)	WDFY2 (V123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189720	NM_052950.4(WDFY2):c.458G>A (p.Arg153Gln)	WDFY2 (R153Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241422	NM_052950.4(WDFY2):c.503G>A (p.Arg168Gln)	WDFY2 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320508	NM_052950.4(WDFY2):c.580A>G (p.Thr194Ala)	WDFY2 (T194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332631	NM_052950.4(WDFY2):c.610G>A (p.Ala204Thr)	WDFY2 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553960	NM_052950.4(WDFY2):c.709G>A (p.Glu237Lys)	WDFY2 (E237K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332632	NM_052950.4(WDFY2):c.802G>A (p.Val268Ile)	WDFY2 (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332633	NM_052950.4(WDFY2):c.822G>C (p.Glu274Asp)	WDFY2 (E274D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332636	NM_052950.4(WDFY2):c.941G>A (p.Cys314Tyr)	DHRS12, WDFY2 (C314Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315610	NM_052950.4(WDFY2):c.961G>A (p.Val321Ile)	DHRS12, WDFY2 (V321I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244947	NM_052950.4(WDFY2):c.1004T>A (p.Met335Lys)	DHRS12, WDFY2 (M335K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485068	NM_052950.4(WDFY2):c.1045G>A (p.Glu349Lys)	DHRS12, WDFY2 (E349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189718	NM_052950.4(WDFY2):c.1140G>C (p.Trp380Cys)	DHRS12, WDFY2 (W380C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552063	NM_052950.4(WDFY2):c.1151C>G (p.Ser384Cys)	DHRS12, WDFY2 (S384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257797	NM_052950.4(WDFY2):c.1165G>T (p.Val389Phe)	DHRS12, WDFY2 (V389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609787	NM_052950.4(WDFY2):c.1186A>T (p.Thr396Ser)	DHRS12, WDFY2 (T396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	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 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 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 2422253	NC_000013.10:g.(?_51484213)_(52602726_?)dup	ALG11, ATP7B +8 more	Duplication	Wilson disease	GUncertain significance
Select item 1808975	GRCh37/hg19 13q14.3(chr13:52024106-52496419)x3	CCDC70, DHRS12 +2 more	Copy number gain	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 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	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 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 1340888	GRCh37/hg19 13q14.3(chr13:52031809-52235986)x3	WDFY2	Copy number gain	not provided	GUncertain significance
Select item 1340816	GRCh37/hg19 13q14.3(chr13:52024030-52496419)x3	CCDC70, DHRS12 +2 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 988918	GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3	ALG11, ATP7B +15 more	Copy number gain	not provided	GUncertain significance
Select item 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 815589	GRCh37/hg19 13q14.3(chr13:52201894-52300847)x1	WDFY2	Copy number loss	not provided	GUncertain significance
Select item 815588	GRCh37/hg19 13q14.3(chr13:52007343-52379994)x3	WDFY2, DHRS12 +1 more	Copy number gain	not provided	GUncertain significance
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 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
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 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 441094	GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	Gnot provided
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 95