ClinVar for Gene (Select 7597) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3215065	NM_005956.4(MTHFD1):c.2470G>A (p.Asp824Asn)	MTHFD1, ZBTB25 (D824N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191975	NM_006977.5(ZBTB25):c.995C>A (p.Thr332Lys)	ZBTB25 (T332K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191974	NM_006977.5(ZBTB25):c.884G>A (p.Arg295His)	ZBTB25 (R334H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191973	NM_006977.5(ZBTB25):c.851C>G (p.Pro284Arg)	ZBTB25 (P284R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191972	NM_006977.5(ZBTB25):c.76T>C (p.Cys26Arg)	ZBTB25 (C26R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191971	NM_006977.5(ZBTB25):c.575C>T (p.Ala192Val)	ZBTB25 (A231V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191970	NM_006977.5(ZBTB25):c.281G>A (p.Arg94His)	ZBTB25 (R133H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191969	NM_006977.5(ZBTB25):c.11C>T (p.Ala4Val)	ZBTB25 (A4V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191968	NM_006977.5(ZBTB25):c.1015T>C (p.Cys339Arg)	ZBTB25 (C339R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106055	NM_004857.3(AKAP5):c.286A>C (p.Lys96Gln)	AKAP5, ZBTB25 (K96Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106052	NM_004857.3(AKAP5):c.232G>T (p.Ala78Ser)	AKAP5, ZBTB25 (A78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106049	NM_004857.3(AKAP5):c.136G>T (p.Ala46Ser)	AKAP5, ZBTB25 (A46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106036	NM_004857.3(AKAP5):c.1003A>G (p.Met335Val)	AKAP5, ZBTB25 (M335V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055742	NM_006977.5(ZBTB25):c.762G>A (p.Arg254=)	ZBTB25	Single nucleotide variant (synonymous variant +1 more)	ZBTB25-related disorder	GLikely benign
Select item 3045091	NM_006977.5(ZBTB25):c.529G>A (p.Asp177Asn)	ZBTB25 (D177N +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB25-related disorder	GBenign
Select item 3044745	NM_005956.4(MTHFD1):c.*148A>C	MTHFD1, ZBTB25 (E954D)	Single nucleotide variant (missense variant +2 more)	MTHFD1-related disorder	GBenign
Select item 3038119	NM_006977.5(ZBTB25):c.266T>C (p.Ile89Thr)	ZBTB25 (I128T +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB25-related disorder	GBenign
Select item 3038087	NM_006977.5(ZBTB25):c.246G>A (p.Thr82=)	ZBTB25	Single nucleotide variant (synonymous variant +1 more)	ZBTB25-related disorder	GLikely benign
Select item 3037199	NM_006977.5(ZBTB25):c.1161A>G (p.Ala387=)	ZBTB25	Single nucleotide variant (synonymous variant +2 more)	ZBTB25-related disorder	GBenign
Select item 2989879	NM_005956.4(MTHFD1):c.2288C>T (p.Thr763Ile)	MTHFD1, ZBTB25 (T763I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985513	NM_005956.4(MTHFD1):c.2535T>G (p.Ala845=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957913	NM_005956.4(MTHFD1):c.2676C>T (p.Arg892=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889021	NM_005956.4(MTHFD1):c.2619C>T (p.His873=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871019	NM_005956.4(MTHFD1):c.2349G>C (p.Val783=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767338	NM_005956.4(MTHFD1):c.2640C>G (p.Val880=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762460	NM_005956.4(MTHFD1):c.2674C>T (p.Arg892Cys)	ZBTB25, MTHFD1 (R892C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2739847	NM_005956.4(MTHFD1):c.2280-4A>C	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2738637	NM_005956.4(MTHFD1):c.2555del (p.Tyr852fs)	MTHFD1, ZBTB25 (Y852fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2735713	NM_005956.4(MTHFD1):c.2718+9A>C	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731322	NM_005956.4(MTHFD1):c.2312G>C (p.Ser771Thr)	MTHFD1, ZBTB25 (S771T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2615940	NM_006977.5(ZBTB25):c.941G>A (p.Arg314Gln)	ZBTB25 (R314Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609059	NM_004857.3(AKAP5):c.659A>C (p.His220Pro)	AKAP5, ZBTB25 (H220P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607583	NM_004857.3(AKAP5):c.497A>C (p.Gln166Pro)	AKAP5, ZBTB25 (Q166P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542824	NM_006977.5(ZBTB25):c.494A>G (p.His165Arg)	ZBTB25 (H204R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542341	NM_004857.3(AKAP5):c.272G>T (p.Arg91Met)	AKAP5, ZBTB25 (R91M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541951	NM_004857.3(AKAP5):c.48G>C (p.Lys16Asn)	AKAP5, ZBTB25 (K16N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533217	NM_004857.3(AKAP5):c.1171C>T (p.Leu391Phe)	AKAP5, ZBTB25 (L391F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526201	NM_004857.3(AKAP5):c.772C>G (p.Gln258Glu)	AKAP5, ZBTB25 (Q258E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515615	NM_006977.5(ZBTB25):c.973G>C (p.Val325Leu)	ZBTB25 (V364L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481156	NM_004857.3(AKAP5):c.976A>C (p.Lys326Gln)	AKAP5, ZBTB25 (K326Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479858	NM_004857.3(AKAP5):c.319C>T (p.Pro107Ser)	AKAP5, ZBTB25 (P107S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471859	NM_006977.5(ZBTB25):c.604T>G (p.Ser202Ala)	ZBTB25 (S202A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471336	NM_004857.3(AKAP5):c.1117G>A (p.Val373Ile)	AKAP5, ZBTB25 (V373I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466174	NM_004857.3(AKAP5):c.842G>A (p.Ser281Asn)	AKAP5, ZBTB25 (S281N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464442	NM_006977.5(ZBTB25):c.621A>T (p.Arg207Ser)	ZBTB25 (R246S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459733	NM_006977.5(ZBTB25):c.520A>G (p.Ile174Val)	ZBTB25 (I174V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2410666	NM_006977.5(ZBTB25):c.240G>A (p.Met80Ile)	ZBTB25 (M119I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404789	NM_004857.3(AKAP5):c.1135G>A (p.Gly379Ser)	AKAP5, ZBTB25 (G379S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364875	NM_006977.5(ZBTB25):c.881G>A (p.Cys294Tyr)	ZBTB25 (C294Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362066	NM_006977.5(ZBTB25):c.940C>T (p.Arg314Trp)	ZBTB25 (R314W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359025	NM_006977.5(ZBTB25):c.235A>G (p.Ile79Val)	ZBTB25 (I118V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349353	NM_006977.5(ZBTB25):c.88A>G (p.Ile30Val)	ZBTB25 (I69V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340120	NM_006977.5(ZBTB25):c.802G>A (p.Gly268Ser)	ZBTB25 (G307S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330526	NM_004857.3(AKAP5):c.517G>C (p.Ala173Pro)	AKAP5, ZBTB25 (A173P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308049	NM_004857.3(AKAP5):c.124A>C (p.Lys42Gln)	AKAP5, ZBTB25 (K42Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296483	NM_004857.3(AKAP5):c.749T>C (p.Leu250Pro)	AKAP5, ZBTB25 (L250P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278760	NM_004857.3(AKAP5):c.628A>T (p.Ile210Phe)	AKAP5, ZBTB25 (I210F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254311	NM_004857.3(AKAP5):c.498G>C (p.Gln166His)	ZBTB25, AKAP5 (Q166H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239327	NM_006977.5(ZBTB25):c.614A>T (p.Gln205Leu)	ZBTB25 (Q244L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221567	NM_004857.3(AKAP5):c.167C>T (p.Ala56Val)	AKAP5, ZBTB25 (A56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213110	NM_004857.3(AKAP5):c.383C>T (p.Pro128Leu)	AKAP5, ZBTB25 (P128L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208635	NM_004857.3(AKAP5):c.28G>A (p.Val10Ile)	AKAP5, ZBTB25 (V10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208292	NM_006977.5(ZBTB25):c.717A>C (p.Leu239Phe)	ZBTB25 (L278F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203965	NM_004857.3(AKAP5):c.227G>T (p.Arg76Leu)	AKAP5, ZBTB25 (R76L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2176279	NM_005956.4(MTHFD1):c.2661C>T (p.Pro887=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2131298	NM_005956.4(MTHFD1):c.2318T>A (p.Leu773His)	MTHFD1, ZBTB25 (L773H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086367	NM_005956.4(MTHFD1):c.2299C>G (p.Leu767Val)	MTHFD1, ZBTB25 (L767V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085779	NM_005956.4(MTHFD1):c.2400G>A (p.Gln800=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068238	NM_005956.4(MTHFD1):c.2584A>G (p.Ile862Val)	MTHFD1, ZBTB25 (I862V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2052329	NM_005956.4(MTHFD1):c.2392C>A (p.Leu798Met)	MTHFD1, ZBTB25 (L798M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981213	NM_005956.4(MTHFD1):c.2280-8C>A	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1968359	NM_005956.4(MTHFD1):c.2655T>C (p.Ile885=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1954997	NM_005956.4(MTHFD1):c.2718+19G>T	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951427	NM_005956.4(MTHFD1):c.2347G>A (p.Val783Met)	MTHFD1, ZBTB25 (V783M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1937294	NM_005956.4(MTHFD1):c.2280-20A>G	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1935886	NM_005956.4(MTHFD1):c.2718G>A (p.Thr906=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1921238	NM_005956.4(MTHFD1):c.2307C>T (p.Leu769=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1901122	NM_005956.4(MTHFD1):c.2628G>A (p.Glu876=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1878421	NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)	MTHFD1, ZBTB25 (Q877*)	Single nucleotide variant (nonsense +1 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1696279	NM_005956.4(MTHFD1):c.2529del (p.Glu844fs)	MTHFD1, ZBTB25 (E844fs)	Deletion (frameshift variant +1 more)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 1642104	NM_005956.4(MTHFD1):c.2667C>T (p.Arg889=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1637692	NM_005956.4(MTHFD1):c.2718+17A>G	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635557	NM_005956.4(MTHFD1):c.2280-16A>G	MTHFD1, ZBTB25	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1631721	NM_005956.4(MTHFD1):c.2718+18G>A	ZBTB25, MTHFD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605862	NM_005956.4(MTHFD1):c.2565+17T>C	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602226	NM_005956.4(MTHFD1):c.2427C>T (p.Pro809=)	MTHFD1, ZBTB25 (G74R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1591752	NM_005956.4(MTHFD1):c.2529C>T (p.Pro843=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1588170	NM_005956.4(MTHFD1):c.2719-17G>A	MTHFD1, ZBTB25	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547348	NM_005956.4(MTHFD1):c.2595T>C (p.Ala865=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1547322	NM_005956.4(MTHFD1):c.2739C>G (p.Leu913=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1529720	NM_005956.4(MTHFD1):c.2682C>T (p.Ser894=)	MTHFD1, ZBTB25	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525350	NM_005956.4(MTHFD1):c.2675G>A (p.Arg892His)	MTHFD1, ZBTB25 (R892H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519312	NM_005956.4(MTHFD1):c.2314C>T (p.Arg772Cys)	MTHFD1, ZBTB25 (R772C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1516903	NM_005956.4(MTHFD1):c.2482A>G (p.Ile828Val)	MTHFD1, ZBTB25 (I828V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509106	NM_005956.4(MTHFD1):c.2590A>G (p.Met864Val)	MTHFD1, ZBTB25 (M864V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504308	NM_005956.4(MTHFD1):c.2801T>C (p.Leu934Ser)	MTHFD1, ZBTB25 (L934S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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