ClinVar for Gene (Select 9920) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287448	NM_014867.3(KBTBD11):c.1463G>A (p.Ser488Asn)	KBTBD11 (S488N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287447	NM_014867.3(KBTBD11):c.1669G>A (p.Ala557Thr)	KBTBD11 (A557T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287446	NM_014867.3(KBTBD11):c.599G>A (p.Arg200Gln)	KBTBD11 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287445	NM_014867.3(KBTBD11):c.1676A>T (p.Asp559Val)	KBTBD11 (D559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287444	NM_014867.3(KBTBD11):c.131G>A (p.Ser44Asn)	KBTBD11 (S44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287443	NM_014867.3(KBTBD11):c.1369G>T (p.Gly457Cys)	KBTBD11 (G457C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287442	NM_014867.3(KBTBD11):c.689A>C (p.Gln230Pro)	KBTBD11 (Q230P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287441	NM_014867.3(KBTBD11):c.1621C>G (p.Leu541Val)	KBTBD11 (L541V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287440	NM_014867.3(KBTBD11):c.683G>C (p.Gly228Ala)	KBTBD11 (G228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3112936	NM_014867.3(KBTBD11):c.990C>A (p.Phe330Leu)	KBTBD11 (F330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112935	NM_014867.3(KBTBD11):c.983A>C (p.Tyr328Ser)	KBTBD11 (Y328S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112934	NM_014867.3(KBTBD11):c.950G>C (p.Gly317Ala)	KBTBD11 (G317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112933	NM_014867.3(KBTBD11):c.770G>A (p.Cys257Tyr)	KBTBD11 (C257Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112932	NM_014867.3(KBTBD11):c.751C>G (p.Leu251Val)	KBTBD11 (L251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112931	NM_014867.3(KBTBD11):c.714G>C (p.Glu238Asp)	KBTBD11 (E238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112930	NM_014867.3(KBTBD11):c.580G>A (p.Gly194Arg)	KBTBD11 (G194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112929	NM_014867.3(KBTBD11):c.406G>A (p.Val136Met)	KBTBD11 (V136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112928	NM_014867.3(KBTBD11):c.231G>C (p.Gln77His)	KBTBD11 (Q77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112927	NM_014867.3(KBTBD11):c.223G>A (p.Glu75Lys)	KBTBD11 (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112926	NM_014867.3(KBTBD11):c.1850G>T (p.Arg617Leu)	KBTBD11 (R617L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112925	NM_014867.3(KBTBD11):c.1798G>T (p.Val600Phe)	KBTBD11 (V600F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112924	NM_014867.3(KBTBD11):c.1693G>T (p.Val565Leu)	KBTBD11 (V565L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112923	NM_014867.3(KBTBD11):c.1574C>T (p.Ser525Phe)	KBTBD11 (S525F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112922	NM_014867.3(KBTBD11):c.1307C>T (p.Ala436Val)	KBTBD11 (A436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112920	NM_014867.3(KBTBD11):c.1260G>C (p.Glu420Asp)	KBTBD11 (E420D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112919	NM_014867.3(KBTBD11):c.1178G>A (p.Ser393Asn)	KBTBD11 (S393N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112918	NM_014867.3(KBTBD11):c.1091C>T (p.Ala364Val)	KBTBD11 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063028	GRCh37/hg19 8p23.3(chr8:1876159-1926958)x1	ARHGEF10, KBTBD11	Copy number loss	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063018	GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024643	GRCh37/hg19 8p23.3(chr8:1774277-2000431)x3	ARHGEF10, KBTBD11 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685290	GRCh37/hg19 8p23.3(chr8:1920156-2102134)x1	KBTBD11, MYOM2	Copy number loss	not provided	GUncertain significance
Select item 2685289	GRCh37/hg19 8p23.3(chr8:1755310-1924210)x1	ARHGEF10, KBTBD11	Copy number loss	not provided	GUncertain significance
Select item 2685287	GRCh37/hg19 8p23.3(chr8:1603859-2121197)x1	KBTBD11, ARHGEF10 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2685284	GRCh37/hg19 8p23.3(chr8:158049-2190480)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2684514	GRCh37/hg19 8p23.3-23.2(chr8:158049-5762015)x3	ARHGEF10, CLN8 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
Select item 2617279	NM_014867.3(KBTBD11):c.1484T>C (p.Met495Thr)	KBTBD11 (M495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612704	NM_014867.3(KBTBD11):c.1057G>A (p.Gly353Ser)	KBTBD11 (G353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611320	NM_014867.3(KBTBD11):c.781G>A (p.Asp261Asn)	KBTBD11 (D261N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608667	NM_014867.3(KBTBD11):c.439T>C (p.Ser147Pro)	KBTBD11 (S147P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603496	NM_014867.3(KBTBD11):c.682G>T (p.Gly228Trp)	KBTBD11 (G228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602441	NM_014867.3(KBTBD11):c.1022C>T (p.Thr341Met)	KBTBD11 (T341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602127	NM_014867.3(KBTBD11):c.1699C>T (p.Arg567Cys)	KBTBD11 (R567C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595357	NM_014867.3(KBTBD11):c.1114C>A (p.Pro372Thr)	KBTBD11 (P372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 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 2552168	NM_014867.3(KBTBD11):c.100C>A (p.Pro34Thr)	KBTBD11 (P34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543846	NM_014867.3(KBTBD11):c.1624C>G (p.Arg542Gly)	KBTBD11 (R542G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541393	NM_014867.3(KBTBD11):c.979G>A (p.Val327Ile)	KBTBD11 (V327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540972	NM_014867.3(KBTBD11):c.1547C>T (p.Ala516Val)	KBTBD11 (A516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540812	NM_014867.3(KBTBD11):c.1234G>C (p.Gly412Arg)	KBTBD11 (G412R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538901	NM_014867.3(KBTBD11):c.1765G>A (p.Gly589Ser)	KBTBD11 (G589S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527408	NM_014867.3(KBTBD11):c.901C>G (p.Leu301Val)	KBTBD11 (L301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493814	NM_014867.3(KBTBD11):c.1643C>T (p.Thr548Met)	KBTBD11 (T548M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491552	NM_014867.3(KBTBD11):c.1448G>A (p.Cys483Tyr)	KBTBD11 (C483Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488704	NM_014867.3(KBTBD11):c.340C>T (p.Leu114Phe)	KBTBD11 (L114F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475063	NM_014867.3(KBTBD11):c.443G>C (p.Gly148Ala)	KBTBD11 (G148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412530	NM_014867.3(KBTBD11):c.1784G>T (p.Gly595Val)	KBTBD11 (G595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410049	NM_014867.3(KBTBD11):c.724G>A (p.Ala242Thr)	KBTBD11 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409579	NM_014867.3(KBTBD11):c.194C>T (p.Pro65Leu)	KBTBD11 (P65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400894	NM_014867.3(KBTBD11):c.1004G>T (p.Gly335Val)	KBTBD11 (G335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398709	NM_014867.3(KBTBD11):c.1103C>G (p.Ala368Gly)	KBTBD11 (A368G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394365	NM_014867.3(KBTBD11):c.680T>C (p.Val227Ala)	KBTBD11 (V227A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390680	NM_014867.3(KBTBD11):c.1147T>G (p.Phe383Val)	KBTBD11 (F383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377400	NM_014867.3(KBTBD11):c.239C>T (p.Ala80Val)	KBTBD11 (A80V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364885	NM_014867.3(KBTBD11):c.389C>T (p.Pro130Leu)	KBTBD11 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363979	NM_014867.3(KBTBD11):c.619G>T (p.Val207Leu)	KBTBD11 (V207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362610	NM_014867.3(KBTBD11):c.278C>T (p.Ser93Phe)	KBTBD11 (S93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354396	NM_014867.3(KBTBD11):c.388C>T (p.Pro130Ser)	KBTBD11 (P130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353879	NM_014867.3(KBTBD11):c.212C>G (p.Pro71Arg)	KBTBD11 (P71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350398	NM_014867.3(KBTBD11):c.583C>T (p.Arg195Cys)	KBTBD11 (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350257	NM_014867.3(KBTBD11):c.1559G>A (p.Ser520Asn)	KBTBD11 (S520N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346169	NM_014867.3(KBTBD11):c.796G>A (p.Val266Met)	KBTBD11 (V266M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339888	NM_014867.3(KBTBD11):c.29T>C (p.Leu10Pro)	KBTBD11 (L10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296874	NM_014867.3(KBTBD11):c.119C>T (p.Ser40Phe)	KBTBD11 (S40F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292657	NM_014867.3(KBTBD11):c.353C>T (p.Ala118Val)	KBTBD11 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284876	NM_014867.3(KBTBD11):c.821G>T (p.Gly274Val)	KBTBD11 (G274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278611	NM_014867.3(KBTBD11):c.1531C>T (p.Arg511Cys)	KBTBD11 (R511C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272404	NM_014867.3(KBTBD11):c.1066G>A (p.Val356Ile)	KBTBD11 (V356I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267205	NM_014867.3(KBTBD11):c.88C>G (p.Pro30Ala)	KBTBD11 (P30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265866	NM_014867.3(KBTBD11):c.715G>A (p.Val239Ile)	KBTBD11 (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259414	NM_014867.3(KBTBD11):c.662A>C (p.Gln221Pro)	KBTBD11 (Q221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259069	NM_014867.3(KBTBD11):c.1577G>C (p.Arg526Pro)	KBTBD11 (R526P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258561	NM_014867.3(KBTBD11):c.1576C>G (p.Arg526Gly)	KBTBD11 (R526G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258483	NM_014867.3(KBTBD11):c.671C>T (p.Thr224Ile)	KBTBD11 (T224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253756	NM_014867.3(KBTBD11):c.440C>G (p.Ser147Trp)	KBTBD11 (S147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248643	NM_014867.3(KBTBD11):c.785A>G (p.His262Arg)	KBTBD11 (H262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247579	NM_014867.3(KBTBD11):c.1088T>G (p.Val363Gly)	KBTBD11 (V363G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241194	NM_014867.3(KBTBD11):c.1280G>T (p.Arg427Leu)	KBTBD11 (R427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231616	NM_014867.3(KBTBD11):c.1100T>G (p.Val367Gly)	KBTBD11 (V367G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226604	NM_014867.3(KBTBD11):c.959A>C (p.Asp320Ala)	KBTBD11 (D320A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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