L3MBTL4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	LINC01892, LINC01895 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 59612	GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1	ADCYAP1, AKAIN1 +161 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 152927	GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1	LOC130062116, LOC130062117 +162 more	Copy number loss	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	LOC126862690, LOC126862691 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	ADCYAP1, AFG3L2 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 150597	GRCh38/hg38 18p11.32-11.31(chr18:118760-6275718)x1	ADCYAP1, AKAIN1 +145 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	MYOM1, NDC80 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LINC00470, LINC00526 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC125368546, LOC125368547 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062172, LOC130062173 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	RAB31, RALBP1 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	LOC130062167, LOC130062168 +245 more	Copy number loss	See cases	GPathogenic
Select item 146582	GRCh38/hg38 18p11.32-11.31(chr18:148963-6086668)x1	ADCYAP1, AKAIN1 +143 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	LOC130062212, LOC130062213 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	ADCYAP1, AFG3L2 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	ADCYAP1, AFG3L2 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	TGIF1, THOC1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	LOC112543419, LOC112543420 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59917	GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1	AKAIN1, DLGAP1 +109 more	Copy number loss	See cases	GPathogenic
Select item 149758	GRCh38/hg38 18p11.31(chr18:5839721-6161831)x1	L3MBTL4, LOC121725015 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2532705	NM_001330559.2(L3MBTL4):c.1819G>A (p.Ala607Thr)	L3MBTL4, LOC121725015 (A616T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2489142	NM_001330559.2(L3MBTL4):c.1801C>T (p.Leu601Phe)	L3MBTL4, LOC121725015 (L601F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2244457	NM_001330559.2(L3MBTL4):c.1694C>T (p.Ala565Val)	LOC121725015, L3MBTL4 (A565V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 154188	GRCh38/hg38 18p11.31(chr18:5958575-6596682)x3	L3MBTL4, L3MBTL4-AS1 +11 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2332646	NM_001330559.2(L3MBTL4):c.1534G>T (p.Gly512Cys)	L3MBTL4, LOC121725015 (G512C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2301975	NM_001330559.2(L3MBTL4):c.1499C>T (p.Thr500Met)	LOC121725015, L3MBTL4 (T509M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2331615	NM_001330559.2(L3MBTL4):c.1421T>C (p.Ile474Thr)	L3MBTL4 (I474T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377749	NM_001330559.2(L3MBTL4):c.1340A>G (p.Asn447Ser)	L3MBTL4 (N447S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554083	NM_001330559.2(L3MBTL4):c.1255G>A (p.Asp419Asn)	L3MBTL4 (D419N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600296	NM_001330559.2(L3MBTL4):c.1181G>A (p.Arg394His)	L3MBTL4 (R394H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476509	NM_001330559.2(L3MBTL4):c.1166A>G (p.His389Arg)	L3MBTL4 (H389R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549354	NM_001330559.2(L3MBTL4):c.1159A>G (p.Ile387Val)	L3MBTL4 (I387V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397513	NM_001330559.2(L3MBTL4):c.1117C>A (p.Leu373Ile)	L3MBTL4 (L373I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276797	NM_001330559.2(L3MBTL4):c.1112A>C (p.Lys371Thr)	L3MBTL4 (K371T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529750	NM_001330559.2(L3MBTL4):c.899T>C (p.Met300Thr)	L3MBTL4 (M300T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591384	NM_001330559.2(L3MBTL4):c.803A>T (p.Asn268Ile)	L3MBTL4 (N268I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329217	NM_001330559.2(L3MBTL4):c.785G>A (p.Gly262Asp)	L3MBTL4 (G262D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363982	NM_001330559.2(L3MBTL4):c.644C>T (p.Ala215Val)	L3MBTL4 (A215V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354609	NM_001330559.2(L3MBTL4):c.551C>T (p.Pro184Leu)	L3MBTL4 (P184L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329875	NM_001330559.2(L3MBTL4):c.502G>T (p.Ala168Ser)	L3MBTL4 (A168S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321488	NM_001330559.2(L3MBTL4):c.459G>C (p.Lys153Asn)	L3MBTL4 (K153N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319593	NM_001330559.2(L3MBTL4):c.418G>A (p.Gly140Arg)	L3MBTL4 (G140R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305896	NM_001330559.2(L3MBTL4):c.404A>G (p.Asp135Gly)	L3MBTL4 (D135G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300631	NM_001330559.2(L3MBTL4):c.374A>G (p.Tyr125Cys)	L3MBTL4 (Y125C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208164	NM_001330559.2(L3MBTL4):c.304T>A (p.Cys102Ser)	L3MBTL4 (C102S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529145	NM_001330559.2(L3MBTL4):c.267A>C (p.Arg89Ser)	L3MBTL4 (R89S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364331	NM_001330559.2(L3MBTL4):c.188C>T (p.Ala63Val)	L3MBTL4 (A63V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226343	NM_001330559.2(L3MBTL4):c.151G>T (p.Ala51Ser)	L3MBTL4 (A51S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 150598	GRCh38/hg38 18p11.31-11.23(chr18:6299210-7244644)x3	ARHGAP28, ARHGAP28-AS1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2288636	NM_001330559.2(L3MBTL4):c.103G>A (p.Asp35Asn)	L3MBTL4 (D35N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 974742	NC_000018.10:g.6335543_6430945dup	L3MBTL4	Duplication	Megacolon	GUncertain significance
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685612	GRCh37/hg19 18p11.32-11.22(chr18:136227-8513569)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684863	GRCh37/hg19 18p11.31-11.23(chr18:5689219-7964689)x3	ARHGAP28, L3MBTL4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1809068	GRCh37/hg19 18p11.31(chr18:3824312-6983454)x1	AKAIN1, ARHGAP28 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1807830	GRCh37/hg19 18p11.32-11.23(chr18:136227-7218594)x1	ADCYAP1, AKAIN1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1711456	GRCh37/hg19 18p11.32-11.22(chr18:1-8638260)x1	ADCYAP1, AKAIN1 +29 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703623	GRCh37/hg19 18p11.32-11.23(chr18:136226-7131132)	ADCYAP1, AKAIN1 +26 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	PRELID3A, PSMG2 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526599	GRCh37/hg19 18p11.31-11.23(chr18:3532742-7487522)	AKAIN1, ARHGAP28 +8 more	Copy number gain	not specified	GPathogenic

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