ClinVar for Gene (Select 121551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3454103	NM_001018072.2(ABTB3):c.2594G>C (p.Gly865Ala)	ABTB3 (G746A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3454013	NM_001018072.2(ABTB3):c.1555C>A (p.Arg519Ser)	ABTB3 (R519S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453929	NM_001018072.2(ABTB3):c.263C>T (p.Ser88Leu)	ABTB3 (S88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453854	NM_001018072.2(ABTB3):c.2936A>G (p.Tyr979Cys)	ABTB3 (Y979C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453773	NM_001018072.2(ABTB3):c.279C>G (p.Asp93Glu)	ABTB3 (D93E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453683	NM_001018072.2(ABTB3):c.1664C>T (p.Ala555Val)	ABTB3 (A189V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453584	NM_001018072.2(ABTB3):c.1511C>T (p.Pro504Leu)	ABTB3 (P138L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453491	NM_001018072.2(ABTB3):c.1571T>C (p.Met524Thr)	ABTB3 (M524T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453402	NM_001018072.2(ABTB3):c.616C>G (p.Arg206Gly)	ABTB3 (R206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453298	NM_001018072.2(ABTB3):c.1402T>C (p.Tyr468His)	ABTB3 (Y102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453202	NM_001018072.2(ABTB3):c.1670G>A (p.Arg557Gln)	ABTB3 (R94Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453111	NM_001018072.2(ABTB3):c.1723C>T (p.Arg575Trp)	ABTB3 (R112W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3453020	NM_001018072.2(ABTB3):c.637G>T (p.Val213Leu)	ABTB3 (V213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3452771	NM_001018072.2(ABTB3):c.1207C>T (p.Pro403Ser)	ABTB3 (P403S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392120	GRCh37/hg19 12q23.3(chr12:106753459-108950630)x3	ABTB3, ASCL4 +12 more	Copy number gain	not provided	GUncertain significance
Select item 3260161	NM_001018072.2(ABTB3):c.2609T>C (p.Phe870Ser)	ABTB3 (F751S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260064	NM_001018072.2(ABTB3):c.2645G>T (p.Ser882Ile)	ABTB3 (S763I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259863	NM_001018072.2(ABTB3):c.1006C>G (p.His336Asp)	ABTB3 (H336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133331	NM_001018072.2(ABTB3):c.98A>G (p.Asn33Ser)	ABTB3 (N33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133324	NM_001018072.2(ABTB3):c.977C>A (p.Pro326Gln)	ABTB3 (P326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133318	NM_001018072.2(ABTB3):c.959C>T (p.Ala320Val)	ABTB3 (A320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133312	NM_001018072.2(ABTB3):c.950C>T (p.Pro317Leu)	ABTB3 (P317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133308	NM_001018072.2(ABTB3):c.932G>A (p.Ser311Asn)	ABTB3 (S311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133303	NM_001018072.2(ABTB3):c.922A>G (p.Ser308Gly)	ABTB3 (S308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133300	NM_001018072.2(ABTB3):c.891C>G (p.Ser297Arg)	ABTB3 (S297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133295	NM_001018072.2(ABTB3):c.872C>T (p.Pro291Leu)	ABTB3 (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133291	NM_001018072.2(ABTB3):c.868G>A (p.Ala290Thr)	ABTB3 (A290T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133285	NM_001018072.2(ABTB3):c.818G>A (p.Gly273Asp)	ABTB3 (G273D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133282	NM_001018072.2(ABTB3):c.814C>G (p.Pro272Ala)	ABTB3 (P272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133276	NM_001018072.2(ABTB3):c.800G>T (p.Gly267Val)	ABTB3 (G267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133265	NM_001018072.2(ABTB3):c.545C>A (p.Ala182Glu)	ABTB3 (A182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133260	NM_001018072.2(ABTB3):c.542C>T (p.Ala181Val)	ABTB3 (A181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133256	NM_001018072.2(ABTB3):c.526G>T (p.Ala176Ser)	ABTB3 (A176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133251	NM_001018072.2(ABTB3):c.496A>C (p.Met166Leu)	ABTB3 (M166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133246	NM_001018072.2(ABTB3):c.458G>C (p.Arg153Pro)	ABTB3 (R153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133237	NM_001018072.2(ABTB3):c.376A>G (p.Lys126Glu)	ABTB3 (K126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133234	NM_001018072.2(ABTB3):c.371T>G (p.Leu124Arg)	ABTB3 (L124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133224	NM_001018072.2(ABTB3):c.356C>T (p.Ala119Val)	ABTB3 (A119V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133220	NM_001018072.2(ABTB3):c.335G>C (p.Arg112Pro)	ABTB3 (R112P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133215	NM_001018072.2(ABTB3):c.3149T>A (p.Phe1050Tyr)	ABTB3 (F931Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133208	NM_001018072.2(ABTB3):c.3112G>C (p.Gly1038Arg)	ABTB3 (G553R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133203	NM_001018072.2(ABTB3):c.3094A>G (p.Asn1032Asp)	ABTB3 (N547D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133197	NM_001018072.2(ABTB3):c.2986A>G (p.Met996Val)	ABTB3 (M511V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133195	NM_001018072.2(ABTB3):c.2982G>C (p.Glu994Asp)	ABTB3 (E509D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133191	NM_001018072.2(ABTB3):c.2902G>A (p.Val968Met)	ABTB3 (V968M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133179	NM_001018072.2(ABTB3):c.2797C>A (p.Pro933Thr)	ABTB3 (P470T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133177	NM_001018072.2(ABTB3):c.275C>G (p.Pro92Arg)	ABTB3 (P92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133176	NM_001018072.2(ABTB3):c.2749C>A (p.Leu917Ile)	ABTB3 (L454I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133174	NM_001018072.2(ABTB3):c.2659G>A (p.Val887Ile)	ABTB3 (V424I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133172	NM_001018072.2(ABTB3):c.2491C>T (p.Arg831Trp)	ABTB3 (R368W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133169	NM_001018072.2(ABTB3):c.2455G>A (p.Val819Ile)	ABTB3 (V334I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133167	NM_001018072.2(ABTB3):c.2434A>T (p.Ile812Phe)	ABTB3 (I349F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133165	NM_001018072.2(ABTB3):c.2425G>A (p.Asp809Asn)	ABTB3 (D346N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133164	NM_001018072.2(ABTB3):c.2407G>A (p.Ala803Thr)	ABTB3 (A340T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133162	NM_001018072.2(ABTB3):c.2345T>C (p.Leu782Ser)	ABTB3 (L319S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133161	NM_001018072.2(ABTB3):c.2338C>A (p.Pro780Thr)	ABTB3 (P780T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133159	NM_001018072.2(ABTB3):c.2329A>G (p.Thr777Ala)	ABTB3 (T314A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133152	NM_001018072.2(ABTB3):c.2129G>A (p.Arg710His)	ABTB3 (R247H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133149	NM_001018072.2(ABTB3):c.1946G>A (p.Arg649His)	ABTB3 (R649H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133147	NM_001018072.2(ABTB3):c.1939G>A (p.Glu647Lys)	ABTB3 (E281K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133145	NM_001018072.2(ABTB3):c.1930G>A (p.Val644Ile)	ABTB3 (V181I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133143	NM_001018072.2(ABTB3):c.1864A>T (p.Met622Leu)	ABTB3 (M159L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133142	NM_001018072.2(ABTB3):c.1724G>A (p.Arg575Gln)	ABTB3 (R112Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133137	NM_001018072.2(ABTB3):c.1690A>G (p.Ile564Val)	ABTB3 (I101V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133134	NM_001018072.2(ABTB3):c.1662T>G (p.Cys554Trp)	ABTB3 (C188W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133130	NM_001018072.2(ABTB3):c.127C>G (p.Pro43Ala)	ABTB3 (P43A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133126	NM_001018072.2(ABTB3):c.1235C>A (p.Thr412Asn)	ABTB3 (T412N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133122	NM_001018072.2(ABTB3):c.1028C>G (p.Ala343Gly)	ABTB3 (A343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685454	GRCh37/hg19 12q23.3(chr12:107470593-107874218)x1	ABTB3, CRY1	Copy number loss	not provided	GUncertain significance
Select item 2672137	NM_001018072.2(ABTB3):c.1843G>A (p.Gly615Arg)	ABTB3 (G152R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643263	NM_001018072.2(ABTB3):c.2268G>A (p.Lys756=)	ABTB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2643262	NM_001018072.2(ABTB3):c.2088T>G (p.Ala696=)	ABTB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643261	NM_001018072.2(ABTB3):c.342C>T (p.Pro114=)	ABTB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622454	NM_001018072.2(ABTB3):c.3073G>A (p.Asp1025Asn)	ABTB3 (D1025N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611843	NM_001018072.2(ABTB3):c.713C>T (p.Thr238Ile)	ABTB3 (T238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604712	NM_001018072.2(ABTB3):c.365G>A (p.Gly122Asp)	ABTB3 (G122D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598778	NM_001018072.2(ABTB3):c.2459C>G (p.Pro820Arg)	ABTB3 (P820R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598641	NM_001018072.2(ABTB3):c.841G>C (p.Ala281Pro)	ABTB3 (A281P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559422	NM_001018072.2(ABTB3):c.2079G>C (p.Gln693His)	ABTB3 (Q693H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558738	NM_001018072.2(ABTB3):c.2841G>A (p.Arg947=)	ABTB3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2553203	NM_001018072.2(ABTB3):c.986C>G (p.Ala329Gly)	ABTB3 (A329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552600	NM_001018072.2(ABTB3):c.2867C>T (p.Pro956Leu)	ABTB3 (P493L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551972	NM_001018072.2(ABTB3):c.643C>T (p.Arg215Cys)	ABTB3 (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541428	NM_001018072.2(ABTB3):c.2497G>A (p.Ala833Thr)	ABTB3 (A348T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538650	NM_001018072.2(ABTB3):c.439G>T (p.Ala147Ser)	ABTB3 (A147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537428	NM_001018072.2(ABTB3):c.3123G>C (p.Glu1041Asp)	ABTB3 (E1041D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521067	NM_001018072.2(ABTB3):c.3035G>A (p.Arg1012Gln)	ABTB3 (R893Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515467	NM_001018072.2(ABTB3):c.2243G>A (p.Arg748His)	ABTB3 (R748H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494962	NM_001018072.2(ABTB3):c.2356C>T (p.Arg786Cys)	ABTB3 (R786C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492994	NM_001018072.2(ABTB3):c.1651G>A (p.Asp551Asn)	ABTB3 (D185N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490649	NM_001018072.2(ABTB3):c.128C>G (p.Pro43Arg)	ABTB3 (P43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481276	NM_001018072.2(ABTB3):c.2371A>G (p.Lys791Glu)	ABTB3 (K328E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473871	NM_001018072.2(ABTB3):c.2179A>G (p.Thr727Ala)	ABTB3 (T727A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465372	NM_001018072.2(ABTB3):c.787G>T (p.Gly263Cys)	ABTB3 (G263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457894	NM_001018072.2(ABTB3):c.266G>C (p.Arg89Pro)	ABTB3 (R89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic

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