25266[HGNC] - ClinVar

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Items: 83

	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 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	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 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009641, LOC130009642 +141 more	Copy number gain	See cases	GUncertain significance
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 more	Copy number gain	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 2206585	NM_032138.7(KBTBD7):c.2024G>A (p.Arg675Gln)	KBTBD6-DT, KBTBD7 (R675Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112985	NM_032138.7(KBTBD7):c.2006T>A (p.Val669Glu)	KBTBD6-DT, KBTBD7 (V669E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510159	NM_032138.7(KBTBD7):c.1803G>A (p.Met601Ile)	KBTBD6-DT, KBTBD7 (M601I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112984	NM_032138.7(KBTBD7):c.1786A>C (p.Ile596Leu)	KBTBD6-DT, KBTBD7 (I596L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231659	NM_032138.7(KBTBD7):c.1745G>A (p.Arg582Gln)	KBTBD6-DT, KBTBD7 (R582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612642	NM_032138.7(KBTBD7):c.1624G>C (p.Gly542Arg)	KBTBD6-DT, KBTBD7 (G542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287476	NM_032138.7(KBTBD7):c.1597G>T (p.Val533Phe)	KBTBD6-DT, KBTBD7 (V533F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474321	NM_032138.7(KBTBD7):c.1568A>G (p.Asp523Gly)	KBTBD6-DT, KBTBD7 (D523G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254108	NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg)	KBTBD7, LOC101929140 (P499R)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 2298342	NM_032138.7(KBTBD7):c.1373G>C (p.Ser458Thr)	KBTBD6-DT, KBTBD7 (S458T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112983	NM_032138.7(KBTBD7):c.1345G>A (p.Val449Ile)	KBTBD6-DT, KBTBD7 (V449I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333693	NM_032138.7(KBTBD7):c.1261C>T (p.Arg421Cys)	KBTBD6-DT, KBTBD7 (R421C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244024	NM_032138.7(KBTBD7):c.1259A>G (p.Asp420Gly)	KBTBD6-DT, KBTBD7 (D420G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112982	NM_032138.7(KBTBD7):c.1219G>A (p.Val407Met)	KBTBD6-DT, KBTBD7 (V407M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254109	NM_032138.7(KBTBD7):c.1208A>C (p.Lys403Thr)	LOC101929140, KBTBD7 (K403T)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 2236035	NM_032138.7(KBTBD7):c.1088C>T (p.Ser363Leu)	KBTBD6-DT, KBTBD7 (S363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112981	NM_032138.7(KBTBD7):c.1027A>C (p.Lys343Gln)	KBTBD6-DT, KBTBD7 (K343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495937	NM_032138.7(KBTBD7):c.961A>G (p.Ser321Gly)	KBTBD6-DT, KBTBD7 (S321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112990	NM_032138.7(KBTBD7):c.908A>G (p.Tyr303Cys)	KBTBD6-DT, KBTBD7 (Y303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623389	NM_032138.7(KBTBD7):c.803T>G (p.Met268Arg)	KBTBD6-DT, KBTBD7 (M268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259738	NM_032138.7(KBTBD7):c.797G>A (p.Arg266His)	KBTBD6-DT, KBTBD7 (R266H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276600	NM_032138.7(KBTBD7):c.722A>G (p.His241Arg)	KBTBD6-DT, KBTBD7 (H241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495773	NM_032138.7(KBTBD7):c.557A>G (p.His186Arg)	KBTBD6-DT, KBTBD7 (H186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495771	NM_032138.7(KBTBD7):c.551A>G (p.Asp184Gly)	KBTBD6-DT, KBTBD7 (D184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513766	NM_032138.7(KBTBD7):c.419A>G (p.Asn140Ser)	KBTBD6-DT, KBTBD7 (N140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112989	NM_032138.7(KBTBD7):c.295A>G (p.Met99Val)	KBTBD6-DT, KBTBD7 (M99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112987	NM_032138.7(KBTBD7):c.233C>T (p.Thr78Met)	KBTBD6-DT, KBTBD7 (T78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112986	NM_032138.7(KBTBD7):c.223G>A (p.Gly75Arg)	KBTBD6-DT, KBTBD7 (G75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287475	NM_032138.7(KBTBD7):c.148C>G (p.Leu50Val)	KBTBD6-DT, KBTBD7 (L50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239353	NM_032138.7(KBTBD7):c.95C>T (p.Ala32Val)	KBTBD6-DT, KBTBD7 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379996	NM_032138.7(KBTBD7):c.86C>T (p.Ser29Leu)	KBTBD6-DT, KBTBD7 (S29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112988	NM_032138.7(KBTBD7):c.23C>G (p.Pro8Arg)	KBTBD6-DT, KBTBD7 (P8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357286	NM_032138.7(KBTBD7):c.20T>C (p.Val7Ala)	KBTBD6-DT, KBTBD7 (V7A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
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 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	MTRF1, TNFSF11 +10 more	Duplication	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 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
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 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 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815583	GRCh37/hg19 13q14.11(chr13:41703612-41769277)x1	KBTBD7, KBTBD6	Copy number loss	not provided	GUncertain significance
Select item 815582	GRCh37/hg19 13q14.11(chr13:41383468-41902324)x1	SLC25A15, KBTBD7 +5 more	Copy number loss	not provided	GUncertain significance
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 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 394530	GRCh37/hg19 13q14.11(chr13:41706731-41766924)x3	KBTBD6, KBTBD7	Copy number gain	See cases	GUncertain significance
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: 83