ClinVar for Gene (Select 221264) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3104345	NM_001145128.3(AK9):c.815C>A (p.Pro272Gln)	AK9 (P272Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104319	NM_001145128.3(AK9):c.5489G>A (p.Ser1830Asn)	AK9, ZBTB24-DT (S1830N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104308	NM_001145128.3(AK9):c.5116A>C (p.Ile1706Leu)	AK9, ZBTB24-DT (I1706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104295	NM_001145128.3(AK9):c.4961T>C (p.Phe1654Ser)	AK9, ZBTB24-DT (F1654S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104267	NM_001145128.3(AK9):c.4685A>G (p.Tyr1562Cys)	AK9, ZBTB24-DT (Y1562C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104266	NM_001145128.3(AK9):c.4645C>T (p.His1549Tyr)	AK9, ZBTB24-DT (H1549Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104248	NM_001145128.3(AK9):c.4133G>A (p.Arg1378His)	AK9 (R1378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104242	NM_001145128.3(AK9):c.3870A>G (p.Ile1290Met)	AK9 (I1290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104214	NM_001145128.3(AK9):c.3050T>C (p.Ile1017Thr)	AK9 (I1017T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104201	NM_001145128.3(AK9):c.2830T>G (p.Phe944Val)	AK9 (F944V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104173	NM_001145128.3(AK9):c.2385C>G (p.Ile795Met)	AK9 (I795M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104170	NM_001145128.3(AK9):c.2358C>G (p.Ile786Met)	AK9 (I786M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104160	NM_001145128.3(AK9):c.2160G>C (p.Arg720Ser)	AK9 (R720S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104150	NM_001145128.3(AK9):c.1929G>T (p.Leu643Phe)	AK9 (L643F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104143	NM_001145128.3(AK9):c.1741G>A (p.Val581Ile)	AK9 (V581I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104141	NM_001145128.3(AK9):c.1720G>A (p.Val574Ile)	AK9 (V574I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104134	NM_001145128.3(AK9):c.1501A>G (p.Ile501Val)	AK9 (I501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104129	NM_001145128.3(AK9):c.143G>A (p.Arg48His)	AK9 (R120H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104126	NM_001145128.3(AK9):c.1350T>G (p.Ile450Met)	AK9 (I450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104123	NM_001145128.3(AK9):c.1230G>A (p.Met410Ile)	AK9 (M410I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104115	NM_001145128.3(AK9):c.1033G>A (p.Asp345Asn)	AK9 (D417N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 3062884	GRCh37/hg19 6q21(chr6:109925900-110080533)x1	AK9, FIG4	Copy number loss	not specified	GPathogenic
Select item 2692354	NM_001145128.3(AK9):c.2444C>T (p.Pro815Leu)	AK9 (P815L)	Single nucleotide variant (missense variant)	Spermatogenic failure 89	GPathogenic
Select item 2692352	NM_001145128.3(AK9):c.2005dup (p.Cys669fs)	AK9 (C669fs)	Duplication (frameshift variant)	Spermatogenic failure 89	GPathogenic
Select item 2692351	NM_001145128.3(AK9):c.4872_4875dup (p.Cys1626fs)	AK9, ZBTB24-DT (C1626fs)	Duplication (frameshift variant)	Spermatogenic failure 89	GPathogenic
Select item 2656832	NM_001145128.3(AK9):c.741A>G (p.Thr247=)	AK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656831	NM_001145128.3(AK9):c.1116A>G (p.Leu372=)	AK9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656830	NM_001145128.3(AK9):c.2466T>C (p.Tyr822=)	AK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656829	NM_001145128.3(AK9):c.4863C>T (p.Cys1621=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623571	NM_001145128.3(AK9):c.2752G>A (p.Gly918Ser)	AK9 (G918S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622481	NM_001145128.3(AK9):c.2580G>T (p.Glu860Asp)	AK9 (E860D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620415	NM_001145128.3(AK9):c.5153G>A (p.Arg1718Gln)	AK9, ZBTB24-DT (R1718Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607876	NM_001145128.3(AK9):c.4382T>C (p.Met1461Thr)	AK9 (M1461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603011	NM_001145128.3(AK9):c.3926A>G (p.Asn1309Ser)	AK9 (N1309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597375	NM_001145128.3(AK9):c.986G>A (p.Arg329Lys)	AK9 (R329K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594665	NM_001145128.3(AK9):c.72T>A (p.Asn24Lys)	AK9 (N96K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589675	NM_001145128.3(AK9):c.2873G>A (p.Arg958Gln)	AK9 (R958Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570301	NM_001145128.3(AK9):c.2858A>C (p.Glu953Ala)	AK9 (E953A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569931	NM_001145128.3(AK9):c.2141T>A (p.Leu714His)	AK9 (L714H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554968	NM_001145128.3(AK9):c.47T>C (p.Phe16Ser)	AK9 (F16S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524361	NM_001145128.3(AK9):c.3785G>A (p.Arg1262His)	AK9 (R1262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515146	NM_001145128.3(AK9):c.4855G>A (p.Ala1619Thr)	AK9, ZBTB24-DT (A1619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509116	NM_001145128.3(AK9):c.4539G>T (p.Arg1513Ser)	AK9, ZBTB24-DT (R1513S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494638	NM_001145128.3(AK9):c.2105A>C (p.Glu702Ala)	AK9 (E702A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492281	NM_001145128.3(AK9):c.2829C>G (p.Asn943Lys)	AK9 (N943K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490041	NM_001145128.3(AK9):c.3910G>C (p.Val1304Leu)	AK9 (V1304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484199	NM_001145128.3(AK9):c.1484T>A (p.Ile495Asn)	AK9 (I495N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482148	NM_001145128.3(AK9):c.3539A>C (p.Lys1180Thr)	AK9 (K1180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474212	NM_001145128.3(AK9):c.3412G>T (p.Asp1138Tyr)	AK9 (D1138Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425988	NC_000006.11:g.(?_109765394)_(110064995_?)dup	AK9, FIG4 +2 more	Duplication	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2425986	NC_000006.11:g.(?_109690054)_(110266416_?)dup	AK9, CD164 +5 more	Duplication	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 2409459	NM_001145128.3(AK9):c.2936A>G (p.Asp979Gly)	AK9 (D979G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408303	NM_001145128.3(AK9):c.3605T>C (p.Ile1202Thr)	AK9 (I1202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404926	NM_001145128.3(AK9):c.760G>A (p.Glu254Lys)	AK9 (E326K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404925	NM_001145128.3(AK9):c.751A>G (p.Thr251Ala)	AK9 (T323A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399822	NM_001145128.3(AK9):c.3565A>C (p.Ile1189Leu)	AK9 (I1189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398097	NM_001145128.3(AK9):c.2244G>T (p.Leu748Phe)	AK9 (L748F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374616	NM_001145128.3(AK9):c.643G>A (p.Glu215Lys)	AK9 (E215K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373282	NM_001145128.3(AK9):c.3016A>C (p.Met1006Leu)	AK9 (M1006L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369230	NM_001145128.3(AK9):c.5375C>T (p.Pro1792Leu)	AK9, ZBTB24-DT (P1792L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366703	NM_001145128.3(AK9):c.1897A>C (p.Ile633Leu)	AK9 (I633L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364248	NM_001145128.3(AK9):c.2285G>A (p.Gly762Glu)	AK9 (G762E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363328	NM_001145128.3(AK9):c.2426C>A (p.Ser809Tyr)	AK9 (S809Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360439	NM_001145128.3(AK9):c.2648A>G (p.Tyr883Cys)	AK9 (Y883C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358252	NM_001145128.3(AK9):c.3383G>A (p.Arg1128Gln)	AK9 (R1128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357043	NM_001145128.3(AK9):c.3098A>C (p.Lys1033Thr)	AK9 (K1033T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351840	NM_001145128.3(AK9):c.1453G>A (p.Val485Ile)	AK9 (V485I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345044	NM_001145128.3(AK9):c.3614G>T (p.Arg1205Ile)	AK9 (R1205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342585	NM_001145128.3(AK9):c.2501A>C (p.Lys834Thr)	AK9 (K834T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342293	NM_001145128.3(AK9):c.4904G>A (p.Arg1635His)	AK9, ZBTB24-DT (R1635H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337731	NM_001145128.3(AK9):c.1523G>A (p.Arg508Lys)	AK9 (R508K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331375	NM_001145128.3(AK9):c.817G>A (p.Ala273Thr)	AK9 (A345T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325098	NM_001145128.3(AK9):c.5723C>A (p.Pro1908Gln)	AK9, ZBTB24-DT (P1908Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324343	NM_001145128.3(AK9):c.1150C>T (p.Leu384Phe)	AK9 (L456F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316684	NM_001145128.3(AK9):c.551A>G (p.His184Arg)	AK9 (H184R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311940	NM_001145128.3(AK9):c.522C>A (p.Asp174Glu)	AK9 (D174E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296594	NM_001145128.3(AK9):c.2254G>A (p.Glu752Lys)	AK9 (E752K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290004	NM_001145128.3(AK9):c.4106A>G (p.Glu1369Gly)	AK9 (E1369G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288615	NM_001145128.3(AK9):c.618A>T (p.Gln206His)	AK9 (Q278H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278238	NM_001145128.3(AK9):c.5080C>T (p.Pro1694Ser)	AK9, ZBTB24-DT (P1694S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276543	NM_001145128.3(AK9):c.4250T>C (p.Val1417Ala)	AK9 (V1417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275616	NM_001145128.3(AK9):c.3391G>A (p.Glu1131Lys)	AK9 (E1131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264708	NM_001145128.3(AK9):c.4283C>A (p.Ala1428Asp)	AK9 (A1428D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260063	NM_001145128.3(AK9):c.2596C>T (p.Pro866Ser)	AK9 (P866S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259415	NM_001145128.3(AK9):c.4361C>T (p.Pro1454Leu)	AK9 (P1454L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253622	NM_001145128.3(AK9):c.3550G>A (p.Asp1184Asn)	AK9 (D1184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248224	NM_001145128.3(AK9):c.5719G>T (p.Asp1907Tyr)	AK9, ZBTB24-DT (D1907Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234980	NM_001145128.3(AK9):c.937G>A (p.Glu313Lys)	AK9 (E385K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213920	NM_001145128.3(AK9):c.3895C>T (p.Arg1299Trp)	AK9 (R1299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210824	NM_001145128.3(AK9):c.5554G>A (p.Glu1852Lys)	AK9, ZBTB24-DT (E1852K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809504	GRCh37/hg19 6q21(chr6:109925791-110080533)x1	AK9, FIG4	Copy number loss	not provided	GUncertain significance
Select item 1807797	GRCh37/hg19 6q21(chr6:109576603-109878834)x1	AK9, CD164 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1340601	GRCh37/hg19 6q21(chr6:109920345-110080533)x1	AK9, FIG4	Copy number loss	not provided	GUncertain significance
Select item 1278522	NM_001145128.3(AK9):c.2388A>G (p.Pro796=)	AK9	Single nucleotide variant (synonymous variant)	not provided	GBenign

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