ClinVar for Gene (Select 84078) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	MTRF1, TNFSF11 +10 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	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 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 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 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	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 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 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 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 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 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	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 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 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 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 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 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 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 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 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 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 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 83