33814[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
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 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 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 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 3280158	NM_001145128.3(AK9):c.5381T>G (p.Leu1794Arg)	AK9, ZBTB24-DT (L1794R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3280126	NM_001145128.3(AK9):c.5329T>A (p.Tyr1777Asn)	AK9, ZBTB24-DT (Y1777N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792049	NM_001145128.3(AK9):c.5277T>C (p.Tyr1759=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3280108	NM_001145128.3(AK9):c.5243T>C (p.Ile1748Thr)	AK9, ZBTB24-DT (I1748T)	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 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 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 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 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 789748	NM_001145128.3(AK9):c.4896G>A (p.Leu1632=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2656829	NM_001145128.3(AK9):c.4863C>T (p.Cys1621=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 770553	NM_001145128.3(AK9):c.4773G>T (p.Trp1591Cys)	AK9, ZBTB24-DT (W1591C)	Single nucleotide variant (missense variant)	not provided	GBenign
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 778890	NM_001145128.3(AK9):c.4650T>C (p.Asn1550=)	AK9, ZBTB24-DT	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 3280077	NM_001145128.3(AK9):c.4525C>A (p.Leu1509Ile)	AK9, ZBTB24-DT (L1509I)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2259415	NM_001145128.3(AK9):c.4361C>T (p.Pro1454Leu)	AK9 (P1454L)	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 2276543	NM_001145128.3(AK9):c.4250T>C (p.Val1417Ala)	AK9 (V1417A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280118	NM_001145128.3(AK9):c.4217C>T (p.Pro1406Leu)	AK9 (P1406L)	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 2290004	NM_001145128.3(AK9):c.4106A>G (p.Glu1369Gly)	AK9 (E1369G)	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 2490041	NM_001145128.3(AK9):c.3910G>C (p.Val1304Leu)	AK9 (V1304L)	Single nucleotide variant (missense variant)	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 3104242	NM_001145128.3(AK9):c.3870A>G (p.Ile1290Met)	AK9 (I1290M)	Single nucleotide variant (missense variant)	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 2345044	NM_001145128.3(AK9):c.3614G>T (p.Arg1205Ile)	AK9 (R1205I)	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 3280137	NM_001145128.3(AK9):c.3578C>T (p.Thr1193Met)	AK9 (T1193M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2253622	NM_001145128.3(AK9):c.3550G>A (p.Asp1184Asn)	AK9 (D1184N)	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 2275616	NM_001145128.3(AK9):c.3391G>A (p.Glu1131Lys)	AK9 (E1131K)	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 3104214	NM_001145128.3(AK9):c.3050T>C (p.Ile1017Thr)	AK9 (I1017T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280048	NM_001145128.3(AK9):c.3046A>G (p.Asn1016Asp)	AK9 (N1016D)	Single nucleotide variant (missense variant)	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 3280167	NM_001145128.3(AK9):c.3008G>T (p.Gly1003Val)	AK9 (G1003V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280057	NM_001145128.3(AK9):c.2989G>T (p.Val997Phe)	AK9 (V997F)	Single nucleotide variant (missense variant)	not specified	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 3280066	NM_001145128.3(AK9):c.2908A>G (p.Lys970Glu)	AK9 (K970E)	Single nucleotide variant (missense variant)	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 3104201	NM_001145128.3(AK9):c.2830T>G (p.Phe944Val)	AK9 (F944V)	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 2623571	NM_001145128.3(AK9):c.2752G>A (p.Gly918Ser)	AK9 (G918S)	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 151008	GRCh38/hg38 6q21(chr6:109563992-109661172)x1	AK9	Copy number loss	See cases	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 2622481	NM_001145128.3(AK9):c.2580G>T (p.Glu860Asp)	AK9 (E860D)	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 2656830	NM_001145128.3(AK9):c.2466T>C (p.Tyr822=)	AK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1238583	NM_001145128.3(AK9):c.2443C>T (p.Pro815Ser)	AK9 (P815S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1278522	NM_001145128.3(AK9):c.2388A>G (p.Pro796=)	AK9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3280147	NM_001145128.3(AK9):c.2383A>G (p.Ile795Val)	AK9 (I795V)	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 2364248	NM_001145128.3(AK9):c.2285G>A (p.Gly762Glu)	AK9 (G762E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786097	NM_001145128.3(AK9):c.2280C>T (p.Thr760=)	AK9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2398097	NM_001145128.3(AK9):c.2244G>T (p.Leu748Phe)	AK9 (L748F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782251	NM_001145128.3(AK9):c.2192-3dup	AK9	Duplication (intron variant)	not provided	GBenign
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 3280032	NM_001145128.3(AK9):c.2143G>A (p.Glu715Lys)	AK9 (E715K)	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 2494638	NM_001145128.3(AK9):c.2105A>C (p.Glu702Ala)	AK9 (E702A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692352	NM_001145128.3(AK9):c.2005dup (p.Cys669fs)	AK9 (C669fs)	Duplication (frameshift variant)	Spermatogenic failure 89	GPathogenic
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 2366703	NM_001145128.3(AK9):c.1897A>C (p.Ile633Leu)	AK9 (I633L)	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 782252	NM_001145128.3(AK9):c.1694-4T>C	AK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 148323	GRCh38/hg38 6q21(chr6:109612069-109749371)x1	AK9, FIG4 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 778891	NM_001145128.3(AK9):c.1542C>G (p.Asp514Glu)	AK9 (D514E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3104134	NM_001145128.3(AK9):c.1501A>G (p.Ile501Val)	AK9 (I501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707969	NM_001145128.3(AK9):c.1495+10T>C	AK9	Single nucleotide variant (intron variant)	not provided	GBenign

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