18619[HGNC] - ClinVar

Search results

Items: 99

	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 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 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 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 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 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	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 2346966	NM_031431.4(COG3):c.5C>T (p.Ala2Val)	COG3 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147087	NM_031431.4(COG3):c.10G>C (p.Ala4Pro)	COG3 (A4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268471	NM_031431.4(COG3):c.79C>T (p.Arg27Trp)	COG3 (R27W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147102	NM_031431.4(COG3):c.95C>T (p.Thr32Met)	COG3 (T32M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584760	NM_031431.4(COG3):c.109G>C (p.Asp37His)	COG3 (D37H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIbb	GPathogenic
Select item 3268470	NM_031431.4(COG3):c.113G>A (p.Arg38Lys)	COG3 (R38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353362	NM_031431.4(COG3):c.119C>G (p.Thr40Arg)	COG3 (T40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584759	NM_031431.4(COG3):c.124T>C (p.Ser42Pro)	COG3 (S42P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIbb	GPathogenic
Select item 2250447	NM_031431.4(COG3):c.131T>C (p.Leu44Ser)	COG3 (L44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147092	NM_031431.4(COG3):c.181A>G (p.Ile61Val)	COG3 (I61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360203	NM_031431.4(COG3):c.223G>A (p.Glu75Lys)	COG3 (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238756	NM_031431.4(COG3):c.244G>A (p.Glu82Lys)	COG3 (E82K)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIbb	GUncertain significance
Select item 2308607	NM_031431.4(COG3):c.343C>A (p.Leu115Met)	COG3 (L115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396870	NM_031431.4(COG3):c.356T>C (p.Met119Thr)	COG3 (M119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474862	NM_031431.4(COG3):c.376A>G (p.Lys126Glu)	COG3 (K126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409253	NM_031431.4(COG3):c.782A>G (p.His261Arg)	COG3 (H261R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263663	NM_031431.4(COG3):c.817A>T (p.Thr273Ser)	COG3 (T273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147100	NM_031431.4(COG3):c.846T>A (p.Asp282Glu)	COG3 (D282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277681	NM_031431.4(COG3):c.905C>G (p.Ala302Gly)	COG3 (A302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147101	NM_031431.4(COG3):c.955G>A (p.Glu319Lys)	COG3 (E319K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147086	NM_031431.4(COG3):c.1006C>G (p.Leu336Val)	COG3 (L336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328355	NM_031431.4(COG3):c.1171C>T (p.Pro391Ser)	COG3 (P391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147088	NM_031431.4(COG3):c.1295A>G (p.Asn432Ser)	COG3 (N432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613398	NM_031431.4(COG3):c.1315G>A (p.Val439Met)	COG3 (V439M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411403	NM_031431.4(COG3):c.1445C>T (p.Ala482Val)	COG3 (A482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268468	NM_031431.4(COG3):c.1468G>C (p.Asp490His)	COG3 (D490H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522961	NM_031431.4(COG3):c.1468G>A (p.Asp490Asn)	COG3 (D490N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147089	NM_031431.4(COG3):c.1485G>A (p.Met495Ile)	COG3 (M495I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268469	NM_031431.4(COG3):c.1520A>G (p.Lys507Arg)	COG3 (K507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265854	NM_031431.4(COG3):c.1616C>G (p.Pro539Arg)	COG3 (P539R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147090	NM_031431.4(COG3):c.1633A>G (p.Ile545Val)	COG3 (I545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147091	NM_031431.4(COG3):c.1657A>G (p.Met553Val)	COG3 (M553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312456	NM_031431.4(COG3):c.1988G>A (p.Ser663Asn)	COG3 (S663N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494016	NM_031431.4(COG3):c.2011T>G (p.Leu671Val)	COG3 (L671V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328230	NM_031431.4(COG3):c.2065G>A (p.Val689Ile)	COG3 (V689I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147093	NM_031431.4(COG3):c.2125G>A (p.Val709Ile)	COG3 (V709I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410909	NM_031431.4(COG3):c.2143T>C (p.Phe715Leu)	COG3 (F715L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147094	NM_031431.4(COG3):c.2173A>G (p.Met725Val)	COG3 (M725V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147095	NM_031431.4(COG3):c.2215C>T (p.Pro739Ser)	COG3 (P739S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249821	NM_031431.4(COG3):c.2225A>C (p.Gln742Pro)	COG3 (Q742P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147096	NM_031431.4(COG3):c.2249C>T (p.Ala750Val)	COG3 (A750V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3147097	NM_031431.4(COG3):c.2275A>G (p.Thr759Ala)	COG3 (T759A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3268467	NM_031431.4(COG3):c.2321A>G (p.Asn774Ser)	COG3 (N774S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147098	NM_031431.4(COG3):c.2374G>A (p.Val792Ile)	COG3 (V792I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486295	NM_031431.4(COG3):c.2435T>C (p.Ile812Thr)	COG3 (I812T)	Single nucleotide variant (missense variant)	not specified	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 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
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 1340814	GRCh37/hg19 13q14.13(chr13:46010135-46340614)x3	CBY2, COG3 +1 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 979369	GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3	ALG11, ARL11 +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564026	GRCh37/hg19 13q14.13(chr13:46018969-46328237)x3	CBY2, COG3 +1 more	Copy number gain	not provided	GUncertain significance
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 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: 99