ClinVar for Gene (Select 10607) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324806	NM_006453.3(TBL3):c.2122C>T (p.Arg708Cys)	TBL3 (R708C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324805	NM_006453.3(TBL3):c.763G>A (p.Val255Met)	TBL3 (V255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324804	NM_006453.3(TBL3):c.1240G>A (p.Val414Met)	TBL3 (V414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324803	NM_006453.3(TBL3):c.1086T>G (p.Phe362Leu)	TBL3 (F362L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324802	NM_006453.3(TBL3):c.974G>A (p.Arg325Gln)	TBL3 (R325Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324801	NM_006453.3(TBL3):c.1127C>T (p.Thr376Met)	TBL3 (T376M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324800	NM_006453.3(TBL3):c.589G>A (p.Ala197Thr)	TBL3 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324799	NM_006453.3(TBL3):c.473C>G (p.Ala158Gly)	TBL3 (A158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324798	NM_006453.3(TBL3):c.518C>T (p.Thr173Met)	TBL3 (T173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324797	NM_006453.3(TBL3):c.2033G>A (p.Arg678Gln)	TBL3 (R678Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300566	NM_172167.3(NOXO1):c.181G>A (p.Gly61Ser)	NOXO1, TBL3 (G61S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300563	NM_172167.3(NOXO1):c.490C>T (p.Arg164Cys)	NOXO1, TBL3 (R163C +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300562	NM_172167.3(NOXO1):c.529A>G (p.Arg177Gly)	NOXO1, TBL3 (R177G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300561	NM_172167.3(NOXO1):c.325G>T (p.Val109Leu)	NOXO1, TBL3 (V114L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3300560	NM_172167.3(NOXO1):c.724G>A (p.Ala242Thr)	NOXO1, TBL3 (A242T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3201480	NM_172167.3(NOXO1):c.971C>T (p.Pro324Leu)	NOXO1, TBL3 (P323L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201479	NM_172167.3(NOXO1):c.920C>T (p.Ala307Val)	NOXO1, TBL3 (A306V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201478	NM_172167.3(NOXO1):c.773G>A (p.Arg258His)	NOXO1, TBL3 (R257H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201477	NM_172167.3(NOXO1):c.746A>T (p.Asp249Val)	NOXO1, TBL3 (D249V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201476	NM_172167.3(NOXO1):c.722G>A (p.Arg241His)	NOXO1, TBL3 (R241H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201475	NM_172167.3(NOXO1):c.712T>A (p.Cys238Ser)	NOXO1, TBL3 (C238S +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201474	NM_172167.3(NOXO1):c.551A>T (p.Gln184Leu)	NOXO1, TBL3 (Q184L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201473	NM_172167.3(NOXO1):c.512C>A (p.Thr171Asn)	NOXO1, TBL3 (T170N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201472	NM_172167.3(NOXO1):c.508T>G (p.Cys170Gly)	NOXO1, TBL3 (C170G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201471	NM_172167.3(NOXO1):c.406G>T (p.Val136Leu)	NOXO1, TBL3 (V141L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201470	NM_172167.3(NOXO1):c.402C>G (p.Ser134Arg)	NOXO1, TBL3 (S133R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3201469	NM_172167.3(NOXO1):c.1004T>C (p.Ile335Thr)	NOXO1, TBL3 (I334T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3174875	NM_006453.3(TBL3):c.97G>A (p.Asp33Asn)	TBL3 (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174874	NM_006453.3(TBL3):c.960G>C (p.Glu320Asp)	TBL3 (E320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174873	NM_006453.3(TBL3):c.910G>A (p.Ala304Thr)	TBL3 (A304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174871	NM_006453.3(TBL3):c.868G>A (p.Gly290Ser)	TBL3 (G290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174870	NM_006453.3(TBL3):c.823G>A (p.Glu275Lys)	TBL3 (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174869	NM_006453.3(TBL3):c.721G>A (p.Ala241Thr)	TBL3 (A241T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174867	NM_006453.3(TBL3):c.535G>C (p.Val179Leu)	TBL3 (V179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174866	NM_006453.3(TBL3):c.472G>A (p.Ala158Thr)	TBL3 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174865	NM_006453.3(TBL3):c.427G>A (p.Gly143Arg)	TBL3 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174864	NM_006453.3(TBL3):c.356C>T (p.Pro119Leu)	TBL3 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174863	NM_006453.3(TBL3):c.316G>A (p.Ala106Thr)	TBL3 (A106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174862	NM_006453.3(TBL3):c.296G>C (p.Ser99Thr)	TBL3 (S99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174861	NM_006453.3(TBL3):c.257G>A (p.Arg86Gln)	TBL3 (R86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174860	NM_006453.3(TBL3):c.2422C>G (p.Pro808Ala)	TBL3 (P808A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174859	NM_006453.3(TBL3):c.2335G>A (p.Ala779Thr)	TBL3 (A779T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174858	NM_006453.3(TBL3):c.2285C>A (p.Pro762His)	TBL3 (P762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174857	NM_006453.3(TBL3):c.2261G>A (p.Arg754Gln)	TBL3 (R754Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174856	NM_006453.3(TBL3):c.2236G>A (p.Glu746Lys)	TBL3 (E746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174855	NM_006453.3(TBL3):c.2165A>T (p.Asn722Ile)	TBL3 (N722I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174854	NM_006453.3(TBL3):c.2140C>G (p.Leu714Val)	TBL3 (L714V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174853	NM_006453.3(TBL3):c.2002C>T (p.Arg668Trp)	TBL3 (R668W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174852	NM_006453.3(TBL3):c.1921G>A (p.Ala641Thr)	TBL3 (A641T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174851	NM_006453.3(TBL3):c.1901A>G (p.Asp634Gly)	TBL3 (D634G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174850	NM_006453.3(TBL3):c.1858G>A (p.Ala620Thr)	TBL3 (A620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174849	NM_006453.3(TBL3):c.1709C>T (p.Ala570Val)	TBL3 (A570V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174848	NM_006453.3(TBL3):c.1681G>C (p.Gly561Arg)	TBL3 (G561R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174847	NM_006453.3(TBL3):c.1594A>G (p.Met532Val)	TBL3 (M532V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174846	NM_006453.3(TBL3):c.1502G>A (p.Arg501His)	TBL3 (R501H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174845	NM_006453.3(TBL3):c.1427G>A (p.Arg476His)	TBL3 (R476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174844	NM_006453.3(TBL3):c.1370C>T (p.Ser457Phe)	TBL3 (S457F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174843	NM_006453.3(TBL3):c.1279G>C (p.Val427Leu)	TBL3 (V427L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174842	NM_006453.3(TBL3):c.1264C>T (p.His422Tyr)	TBL3 (H422Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174841	NM_006453.3(TBL3):c.124G>A (p.Val42Ile)	TBL3 (V42I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174840	NM_006453.3(TBL3):c.1157G>A (p.Arg386Gln)	TBL3 (R386Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174839	NM_006453.3(TBL3):c.1135G>A (p.Val379Ile)	TBL3 (V379I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174838	NM_006453.3(TBL3):c.1072T>C (p.Cys358Arg)	TBL3 (C358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174836	NM_006453.3(TBL3):c.1009G>A (p.Val337Ile)	TBL3 (V337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2681440	NM_172167.3(NOXO1):c.786G>A (p.Leu262=)	NOXO1, TBL3	Single nucleotide variant (3 prime UTR variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2645960	NM_172167.3(NOXO1):c.116G>A (p.Arg39His)	NOXO1, TBL3 (R39H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2645959	NM_006453.3(TBL3):c.1581C>T (p.Val527=)	TBL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645958	NM_006453.3(TBL3):c.1071C>T (p.Pro357=)	TBL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645957	NM_006453.3(TBL3):c.703G>A (p.Val235Met)	TBL3 (V235M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622471	NM_006453.3(TBL3):c.535G>A (p.Val179Met)	TBL3 (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600434	NM_006453.3(TBL3):c.460G>C (p.Val154Leu)	TBL3 (V154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598560	NM_006453.3(TBL3):c.334G>A (p.Val112Met)	TBL3 (V112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596966	NM_172167.3(NOXO1):c.340A>G (p.Thr114Ala)	NOXO1, TBL3 (T113A +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2569226	NM_006453.3(TBL3):c.2222G>A (p.Arg741Gln)	TBL3 (R741Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560055	NM_006453.3(TBL3):c.1687G>C (p.Asp563His)	TBL3 (D563H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557198	NM_172167.3(NOXO1):c.425A>G (p.Glu142Gly)	NOXO1, TBL3 (E142G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2556899	NM_006453.3(TBL3):c.2323C>T (p.Leu775Phe)	TBL3 (L775F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546966	NM_172167.3(NOXO1):c.769G>A (p.Ala257Thr)	NOXO1, TBL3 (A262T +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545821	NM_172167.3(NOXO1):c.205G>A (p.Val69Ile)	NOXO1, TBL3 (V69I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2543178	NM_006453.3(TBL3):c.916G>A (p.Val306Met)	TBL3 (V306M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536917	NM_006453.3(TBL3):c.1457C>G (p.Ala486Gly)	TBL3 (A486G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523262	NM_172167.3(NOXO1):c.1040T>G (p.Leu347Arg)	NOXO1, TBL3 (L351R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2523088	NM_006453.3(TBL3):c.1133T>C (p.Ile378Thr)	TBL3 (I378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521370	NM_006453.3(TBL3):c.1852G>A (p.Asp618Asn)	TBL3 (D618N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520154	NM_172167.3(NOXO1):c.623C>T (p.Ala208Val)	NOXO1, TBL3 (A208V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519169	NM_172167.3(NOXO1):c.613C>T (p.Arg205Trp)	NOXO1, TBL3 (R210W +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2518832	NM_006453.3(TBL3):c.296G>T (p.Ser99Ile)	TBL3 (S99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516193	NM_006453.3(TBL3):c.1579G>A (p.Val527Ile)	TBL3 (V527I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512654	NM_006453.3(TBL3):c.814C>T (p.Arg272Cys)	TBL3 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2491144	NM_172167.3(NOXO1):c.154C>A (p.Leu52Ile)	NOXO1, TBL3 (L52I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488358	NM_172167.3(NOXO1):c.913G>A (p.Asp305Asn)	NOXO1, TBL3 (D304N +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2485062	NM_006453.3(TBL3):c.317C>T (p.Ala106Val)	TBL3 (A106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480605	NM_006453.3(TBL3):c.958G>A (p.Glu320Lys)	TBL3 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477615	NM_006453.3(TBL3):c.512C>T (p.Ser171Leu)	TBL3 (S171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474292	NM_006453.3(TBL3):c.552C>A (p.Asp184Glu)	TBL3 (D184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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