NUTM2G[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 2343157	NM_001170741.3(NUTM2G):c.37G>A (p.Gly13Ser)	NUTM2G, ZNF782 (G13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203394	NM_001170741.3(NUTM2G):c.65T>C (p.Leu22Pro)	NUTM2G, ZNF782 (L22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321536	NM_001170741.3(NUTM2G):c.75C>G (p.Phe25Leu)	NUTM2G, ZNF782 (F25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209134	NM_001170741.3(NUTM2G):c.79G>A (p.Ala27Thr)	NUTM2G, ZNF782 (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616126	NM_001170741.3(NUTM2G):c.151G>T (p.Ala51Ser)	NUTM2G, ZNF782 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248370	NM_001170741.3(NUTM2G):c.215G>C (p.Gly72Ala)	NUTM2G, ZNF782 (G72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203390	NM_001170741.3(NUTM2G):c.275T>C (p.Val92Ala)	NUTM2G, ZNF782 (V92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490969	NM_001170741.3(NUTM2G):c.313G>T (p.Ala105Ser)	NUTM2G, ZNF782 (A105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400942	NM_001170741.3(NUTM2G):c.353G>A (p.Gly118Asp)	NUTM2G, ZNF782 (G118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203391	NM_001170741.3(NUTM2G):c.403G>A (p.Val135Ile)	NUTM2G, ZNF782 (V135I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589022	NM_001170741.3(NUTM2G):c.508G>A (p.Val170Met)	NUTM2G, ZNF782 (V170M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203392	NM_001170741.3(NUTM2G):c.515C>T (p.Pro172Leu)	NUTM2G, ZNF782 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203393	NM_001170741.3(NUTM2G):c.595G>A (p.Asp199Asn)	NUTM2G, ZNF782 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619677	NM_001170741.3(NUTM2G):c.607C>T (p.Pro203Ser)	NUTM2G, ZNF782 (P203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301658	NM_001170741.3(NUTM2G):c.632G>A (p.Arg211Gln)	NUTM2G, ZNF782 (R211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317559	NM_001170741.3(NUTM2G):c.679A>G (p.Ser227Gly)	NUTM2G, ZNF782 (S227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203395	NM_001170741.3(NUTM2G):c.755C>T (p.Thr252Met)	NUTM2G (T252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294477	NM_001170741.3(NUTM2G):c.767G>A (p.Gly256Glu)	NUTM2G (G256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512634	NM_001170741.3(NUTM2G):c.787G>C (p.Glu263Gln)	NUTM2G (E263Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547869	NM_001170741.3(NUTM2G):c.800C>G (p.Thr267Arg)	NUTM2G (T267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372821	NM_001170741.3(NUTM2G):c.817A>G (p.Met273Val)	NUTM2G (M273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559099	NM_001170741.3(NUTM2G):c.819G>C (p.Met273Ile)	NUTM2G (M273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343305	NM_001170741.3(NUTM2G):c.923C>T (p.Pro308Leu)	NUTM2G (P308L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342706	NM_001170741.3(NUTM2G):c.929C>T (p.Pro310Leu)	NUTM2G (P310L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301654	NM_001170741.3(NUTM2G):c.959C>A (p.Ala320Asp)	NUTM2G (A320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595214	NM_001170741.3(NUTM2G):c.1088C>A (p.Pro363His)	NUTM2G (P363H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544027	NM_001170741.3(NUTM2G):c.1091C>A (p.Pro364Gln)	NUTM2G (P364Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268917	NM_001170741.3(NUTM2G):c.1091C>T (p.Pro364Leu)	NUTM2G (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203380	NM_001170741.3(NUTM2G):c.1105A>G (p.Thr369Ala)	NUTM2G (T369A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239109	NM_001170741.3(NUTM2G):c.1106C>T (p.Thr369Ile)	NUTM2G (T369I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232817	NM_001170741.3(NUTM2G):c.1193C>A (p.Thr398Lys)	NUTM2G (T398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301661	NM_001170741.3(NUTM2G):c.1268C>T (p.Pro423Leu)	NUTM2G (P423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203381	NM_001170741.3(NUTM2G):c.1277T>A (p.Leu426Gln)	NUTM2G (L426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600618	NM_001170741.3(NUTM2G):c.1286T>C (p.Ile429Thr)	NUTM2G (I429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301660	NM_001170741.3(NUTM2G):c.1313T>C (p.Phe438Ser)	NUTM2G (F438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203382	NM_001170741.3(NUTM2G):c.1346G>A (p.Arg449Gln)	NUTM2G (R449Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338787	NM_001170741.3(NUTM2G):c.1372G>C (p.Asp458His)	NUTM2G (D458H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623657	NM_001170741.3(NUTM2G):c.1373A>C (p.Asp458Ala)	NUTM2G (D458A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263824	NM_001170741.3(NUTM2G):c.1379A>G (p.Gln460Arg)	NUTM2G (Q460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203383	NM_001170741.3(NUTM2G):c.1380G>T (p.Gln460His)	NUTM2G (Q460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365933	NM_001170741.3(NUTM2G):c.1454G>A (p.Arg485His)	NUTM2G (R485H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344876	NM_001170741.3(NUTM2G):c.1457T>C (p.Leu486Pro)	NUTM2G (L486P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591919	NM_001170741.3(NUTM2G):c.1573G>A (p.Asp525Asn)	NUTM2G (D525N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291660	NM_001170741.3(NUTM2G):c.1604C>G (p.Ser535Cys)	NUTM2G (S535C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3203384	NM_001170741.3(NUTM2G):c.1630C>A (p.Pro544Thr)	NUTM2G (P544T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659326	NM_001170741.3(NUTM2G):c.1710C>G (p.Pro570=)	NUTM2G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3203385	NM_001170741.3(NUTM2G):c.1712G>C (p.Arg571Thr)	NUTM2G (R571T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323628	NM_001170741.3(NUTM2G):c.1723G>T (p.Val575Phe)	NUTM2G (V575F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203386	NM_001170741.3(NUTM2G):c.1726C>T (p.Arg576Trp)	NUTM2G (R576W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301652	NM_001170741.3(NUTM2G):c.1760C>T (p.Thr587Ile)	NUTM2G (T587I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472423	NM_001170741.3(NUTM2G):c.1763G>A (p.Cys588Tyr)	NUTM2G (C588Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301656	NM_001170741.3(NUTM2G):c.1786G>A (p.Ala596Thr)	NUTM2G (A596T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3301659	NM_001170741.3(NUTM2G):c.1802G>C (p.Gly601Ala)	NUTM2G (G601A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619302	NM_001170741.3(NUTM2G):c.1896C>A (p.His632Gln)	NUTM2G (H632Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589694	NM_001170741.3(NUTM2G):c.1953C>G (p.Ser651Arg)	NUTM2G (S651R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397128	NM_001170741.3(NUTM2G):c.1955C>G (p.Pro652Arg)	NUTM2G (P652R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203387	NM_001170741.3(NUTM2G):c.2023C>A (p.Pro675Thr)	NUTM2G (P675T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301657	NM_001170741.3(NUTM2G):c.2051G>A (p.Arg684Gln)	NUTM2G (R684Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203388	NM_001170741.3(NUTM2G):c.2053C>G (p.Pro685Ala)	NUTM2G (P685A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356774	NM_001170741.3(NUTM2G):c.2089C>T (p.Pro697Ser)	NUTM2G (P697S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347663	NM_001170741.3(NUTM2G):c.2189C>A (p.Ala730Asp)	NUTM2G (A730D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368507	NM_001170741.3(NUTM2G):c.2206A>C (p.Lys736Gln)	NUTM2G (K736Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301655	NM_001170741.3(NUTM2G):c.2210G>A (p.Arg737Gln)	NUTM2G (R737Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443720	GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1	AOPEP, CCDC180 +26 more	Copy number loss	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394717	GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1	AOPEP, CDC14B +17 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 98