KBTBD11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59736	GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3	AGPAT5, ANGPT2 +380 more	Copy number gain	See cases	GPathogenic
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 60328	GRCh38/hg38 8p23.3(chr8:202100-2017223)x1	LOC126860273, LOC126860274 +49 more	Copy number loss	See cases	GPathogenic
Select item 155691	GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4	LOC129999788, LOC129999789 +126 more	Copy number gain	See cases	GPathogenic
Select item 155587	GRCh38/hg38 8p23.3-23.2(chr8:208048-5615542)x1	ARHGEF10, CLN8 +74 more	Copy number loss	See cases	GLikely pathogenic
Select item 155440	GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 155311	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3	AGPAT5, ANGPT2 +126 more	Copy number gain	See cases	GUncertain significance
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 151750	GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 151132	GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60330	GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 60329	GRCh38/hg38 8p23.3-23.2(chr8:219853-3814398)x1	ARHGEF10, CLN8 +68 more	Copy number loss	See cases	GPathogenic
Select item 59737	GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3	AGPAT5, ANGPT2 +255 more	Copy number gain	See cases	GPathogenic
Select item 155181	GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154744	GRCh38/hg38 8p23.3-23.2(chr8:226452-4316172)x1	ARHGEF10, CLN8 +69 more	Copy number loss	See cases	GUncertain significance
Select item 152917	GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3	AGPAT5, ANGPT2 +448 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 152253	GRCh38/hg38 8p23.3(chr8:226452-2017223)x1	ARHGEF10, CLN8 +48 more	Copy number loss	See cases	GPathogenic
Select item 150616	GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150497	GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1	AGPAT5, ANGPT2 +126 more	Copy number loss	See cases	GPathogenic
Select item 150139	GRCh38/hg38 8p23.3-23.2(chr8:226452-2767932)x1	ARHGEF10, CLN8 +59 more	Copy number loss	See cases	GUncertain significance
Select item 149174	GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3	AGPAT5, ANGPT2 +172 more	Copy number gain	See cases	GPathogenic
Select item 148922	GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3	AGPAT5, ANGPT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 148183	GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GLikely pathogenic
Select item 161038	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 161036	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3	AGPAT5, ANGPT2 +166 more	Copy number gain	See cases	GPathogenic
Select item 160883	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 154529	GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1	FAM90A24, FAM90A3 +256 more	Copy number loss	See cases	GPathogenic
Select item 147663	GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147569	GRCh38/hg38 8p23.3-23.2(chr8:241530-3331813)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC126860290, LOC126860291 +687 more	Copy number gain	See cases	GPathogenic
Select item 146221	GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1	AGPAT5, ANGPT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 146114	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3	AGPAT5, ANGPT2 +123 more	Copy number gain	See cases	GPathogenic
Select item 145578	GRCh38/hg38 8p23.3-23.2(chr8:241530-3212774)x1	ARHGEF10, CLN8 +64 more	Copy number loss	See cases	GPathogenic
Select item 145525	GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1	AGPAT5, ANGPT2 +253 more	Copy number loss	See cases	GPathogenic
Select item 60342	GRCh38/hg38 8p23.3-23.2(chr8:241530-3701826)x1	ARHGEF10, CLN8 +66 more	Copy number loss	See cases	GPathogenic
Select item 60341	GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1	AGPAT5, ANGPT2 +124 more	Copy number loss	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 34125	GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1	AGPAT5, ANGPT2 +166 more	Copy number loss	See cases	GPathogenic
Select item 32742	GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 146751	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1	AGPAT5, ANGPT2 +123 more	Copy number loss	See cases	GPathogenic
Select item 146750	GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3	AGPAT5, ANGPT2 +123 more	Copy number gain	See cases	GPathogenic
Select item 161035	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 32497	GRCh38/hg38 8p23.3(chr8:244617-2017223)x1	ARHGEF10, CLN8 +46 more	Copy number loss	See cases	GPathogenic
Select item 145967	GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1	AGPAT5, ANGPT2 +135 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 148126	GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3	AGPAT5, ANGPT2 +161 more	Copy number gain	See cases	GBenign
Select item 58955	GRCh38/hg38 8p23.3-23.2(chr8:1891352-3929104)x1	ARHGEF10, CSMD1 +25 more	Copy number loss	See cases	GUncertain significance
Select item 2339888	NM_014867.3(KBTBD11):c.29T>C (p.Leu10Pro)	KBTBD11 (L10P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267205	NM_014867.3(KBTBD11):c.88C>G (p.Pro30Ala)	KBTBD11 (P30A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552168	NM_014867.3(KBTBD11):c.100C>A (p.Pro34Thr)	KBTBD11 (P34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296874	NM_014867.3(KBTBD11):c.119C>T (p.Ser40Phe)	KBTBD11 (S40F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409579	NM_014867.3(KBTBD11):c.194C>T (p.Pro65Leu)	KBTBD11 (P65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353879	NM_014867.3(KBTBD11):c.212C>G (p.Pro71Arg)	KBTBD11 (P71R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377400	NM_014867.3(KBTBD11):c.239C>T (p.Ala80Val)	KBTBD11 (A80V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2362610	NM_014867.3(KBTBD11):c.278C>T (p.Ser93Phe)	KBTBD11 (S93F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488704	NM_014867.3(KBTBD11):c.340C>T (p.Leu114Phe)	KBTBD11 (L114F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292657	NM_014867.3(KBTBD11):c.353C>T (p.Ala118Val)	KBTBD11 (A118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354396	NM_014867.3(KBTBD11):c.388C>T (p.Pro130Ser)	KBTBD11 (P130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364885	NM_014867.3(KBTBD11):c.389C>T (p.Pro130Leu)	KBTBD11 (P130L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608667	NM_014867.3(KBTBD11):c.439T>C (p.Ser147Pro)	KBTBD11 (S147P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253756	NM_014867.3(KBTBD11):c.440C>G (p.Ser147Trp)	KBTBD11 (S147W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475063	NM_014867.3(KBTBD11):c.443G>C (p.Gly148Ala)	KBTBD11 (G148A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350398	NM_014867.3(KBTBD11):c.583C>T (p.Arg195Cys)	KBTBD11 (R195C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363979	NM_014867.3(KBTBD11):c.619G>T (p.Val207Leu)	KBTBD11 (V207L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259414	NM_014867.3(KBTBD11):c.662A>C (p.Gln221Pro)	KBTBD11 (Q221P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258483	NM_014867.3(KBTBD11):c.671C>T (p.Thr224Ile)	KBTBD11 (T224I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394365	NM_014867.3(KBTBD11):c.680T>C (p.Val227Ala)	KBTBD11 (V227A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603496	NM_014867.3(KBTBD11):c.682G>T (p.Gly228Trp)	KBTBD11 (G228W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265866	NM_014867.3(KBTBD11):c.715G>A (p.Val239Ile)	KBTBD11 (V239I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410049	NM_014867.3(KBTBD11):c.724G>A (p.Ala242Thr)	KBTBD11 (A242T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611320	NM_014867.3(KBTBD11):c.781G>A (p.Asp261Asn)	KBTBD11 (D261N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248643	NM_014867.3(KBTBD11):c.785A>G (p.His262Arg)	KBTBD11 (H262R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346169	NM_014867.3(KBTBD11):c.796G>A (p.Val266Met)	KBTBD11 (V266M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284876	NM_014867.3(KBTBD11):c.821G>T (p.Gly274Val)	KBTBD11 (G274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527408	NM_014867.3(KBTBD11):c.901C>G (p.Leu301Val)	KBTBD11 (L301V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210284	NM_014867.3(KBTBD11):c.908C>T (p.Pro303Leu)	KBTBD11 (P303L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226604	NM_014867.3(KBTBD11):c.959A>C (p.Asp320Ala)	KBTBD11 (D320A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541393	NM_014867.3(KBTBD11):c.979G>A (p.Val327Ile)	KBTBD11 (V327I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400894	NM_014867.3(KBTBD11):c.1004G>T (p.Gly335Val)	KBTBD11 (G335V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602441	NM_014867.3(KBTBD11):c.1022C>T (p.Thr341Met)	KBTBD11 (T341M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612704	NM_014867.3(KBTBD11):c.1057G>A (p.Gly353Ser)	KBTBD11 (G353S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272404	NM_014867.3(KBTBD11):c.1066G>A (p.Val356Ile)	KBTBD11 (V356I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247579	NM_014867.3(KBTBD11):c.1088T>G (p.Val363Gly)	KBTBD11 (V363G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231616	NM_014867.3(KBTBD11):c.1100T>G (p.Val367Gly)	KBTBD11 (V367G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398709	NM_014867.3(KBTBD11):c.1103C>G (p.Ala368Gly)	KBTBD11 (A368G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595357	NM_014867.3(KBTBD11):c.1114C>A (p.Pro372Thr)	KBTBD11 (P372T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390680	NM_014867.3(KBTBD11):c.1147T>G (p.Phe383Val)	KBTBD11 (F383V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540812	NM_014867.3(KBTBD11):c.1234G>C (p.Gly412Arg)	KBTBD11 (G412R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241194	NM_014867.3(KBTBD11):c.1280G>T (p.Arg427Leu)	KBTBD11 (R427L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491552	NM_014867.3(KBTBD11):c.1448G>A (p.Cys483Tyr)	KBTBD11 (C483Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617279	NM_014867.3(KBTBD11):c.1484T>C (p.Met495Thr)	KBTBD11 (M495T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278611	NM_014867.3(KBTBD11):c.1531C>T (p.Arg511Cys)	KBTBD11 (R511C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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