ClinVar for Gene (Select 728118) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301647	NM_001099338.2(NUTM2A):c.1397T>G (p.Leu466Arg)	NUTM2A (L466R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301646	NM_001099338.2(NUTM2A):c.451C>T (p.Pro151Ser)	NUTM2A (P151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301645	NM_001099338.2(NUTM2A):c.680C>G (p.Ala227Gly)	NUTM2A (A227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301643	NM_001099338.2(NUTM2A):c.1601C>T (p.Ala534Val)	NUTM2A (A534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301642	NM_001099338.2(NUTM2A):c.602C>G (p.Ser201Cys)	NUTM2A (S201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301641	NM_001099338.2(NUTM2A):c.733C>T (p.Pro245Ser)	NUTM2A (P245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301640	NM_001099338.2(NUTM2A):c.1726G>A (p.Val576Ile)	NUTM2A (V576I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301639	NM_001099338.2(NUTM2A):c.1597G>A (p.Gly533Arg)	NUTM2A (G533R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301638	NM_001099338.2(NUTM2A):c.919G>A (p.Gly307Arg)	NUTM2A (G307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301637	NM_001099338.2(NUTM2A):c.2521A>T (p.Arg841Trp)	NUTM2A (R841W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3203358	NM_001099338.2(NUTM2A):c.884A>G (p.Gln295Arg)	NUTM2A (Q295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203357	NM_001099338.2(NUTM2A):c.685C>A (p.Leu229Ile)	NUTM2A (L229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203356	NM_001099338.2(NUTM2A):c.2623C>T (p.Arg875Cys)	NUTM2A (R875C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203355	NM_001099338.2(NUTM2A):c.2546C>T (p.Thr849Ile)	NUTM2A (T849I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203353	NM_001099338.2(NUTM2A):c.2386G>A (p.Gly796Arg)	NUTM2A (G796R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203352	NM_001099338.2(NUTM2A):c.2330C>A (p.Pro777His)	NUTM2A (P777H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203351	NM_001099338.2(NUTM2A):c.2206C>G (p.Leu736Val)	NUTM2A (L736V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203350	NM_001099338.2(NUTM2A):c.1667C>T (p.Thr556Met)	NUTM2A (T556M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203349	NM_001099338.2(NUTM2A):c.1480C>T (p.Arg494Cys)	NUTM2A (R494C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203348	NM_001099338.2(NUTM2A):c.1415A>G (p.Gln472Arg)	NUTM2A (Q472R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203347	NM_001099338.2(NUTM2A):c.1385C>A (p.Pro462Gln)	NUTM2A (P462Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2614876	NM_001099338.2(NUTM2A):c.1929G>C (p.Leu643Phe)	NUTM2A (L643F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595352	NM_001099338.2(NUTM2A):c.1463G>A (p.Arg488Gln)	NUTM2A (R488Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2565206	NM_001099338.2(NUTM2A):c.508G>T (p.Ala170Ser)	NUTM2A (A170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562265	NM_001099338.2(NUTM2A):c.2405C>A (p.Ser802Tyr)	NUTM2A (S802Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554642	NM_001099338.2(NUTM2A):c.719G>C (p.Gly240Ala)	NUTM2A (G240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548065	NM_001099338.2(NUTM2A):c.1456C>T (p.His486Tyr)	NUTM2A (H486Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509502	NM_001099338.2(NUTM2A):c.621G>A (p.Met207Ile)	NUTM2A (M207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491338	NM_001099338.2(NUTM2A):c.1570A>G (p.Met524Val)	NUTM2A (M524V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491221	NM_001099338.2(NUTM2A):c.2494A>G (p.Lys832Glu)	NUTM2A (K832E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460467	NM_001099338.2(NUTM2A):c.1481G>A (p.Arg494His)	NUTM2A (R494H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458417	NM_001099338.2(NUTM2A):c.1604C>T (p.Thr535Met)	NUTM2A (T535M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458416	NM_001099338.2(NUTM2A):c.1447C>T (p.Pro483Ser)	NUTM2A (P483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458281	NM_001099338.2(NUTM2A):c.1725C>G (p.Phe575Leu)	NUTM2A (F575L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2401923	NM_001099338.2(NUTM2A):c.1607G>T (p.Gly536Val)	NUTM2A (G536V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395446	NM_001099338.2(NUTM2A):c.909A>C (p.Gln303His)	NUTM2A (Q303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394384	NM_001099338.2(NUTM2A):c.1070C>T (p.Ser357Leu)	NUTM2A (S357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384973	NM_001099338.2(NUTM2A):c.406G>A (p.Val136Met)	NUTM2A (V136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377090	NM_001099338.2(NUTM2A):c.877G>T (p.Val293Leu)	NUTM2A (V293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363543	NM_001099338.2(NUTM2A):c.2363G>T (p.Ser788Ile)	NUTM2A (S788I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363042	NM_001099338.2(NUTM2A):c.2140C>T (p.Pro714Ser)	NUTM2A (P714S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363000	NM_001099338.2(NUTM2A):c.428C>T (p.Ser143Phe)	NUTM2A (S143F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356295	NM_001099338.2(NUTM2A):c.649G>A (p.Ala217Thr)	NUTM2A (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355805	NM_001099338.2(NUTM2A):c.472G>A (p.Gly158Ser)	NUTM2A (G158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354308	NM_001099338.2(NUTM2A):c.1064C>T (p.Ala355Val)	NUTM2A (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349755	NM_001099338.2(NUTM2A):c.1436G>A (p.Arg479His)	NUTM2A (R479H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348414	NM_001099338.2(NUTM2A):c.1385C>T (p.Pro462Leu)	NUTM2A (P462L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347740	NM_001099338.2(NUTM2A):c.2138G>A (p.Arg713Gln)	NUTM2A (R713Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346515	NM_001099338.2(NUTM2A):c.688G>A (p.Val230Ile)	NUTM2A (V230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344234	NM_001099338.2(NUTM2A):c.2275C>T (p.Pro759Ser)	NUTM2A (P759S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344130	NM_001099338.2(NUTM2A):c.1541C>G (p.Pro514Arg)	NUTM2A (P514R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343641	NM_001099338.2(NUTM2A):c.1451G>A (p.Arg484Gln)	NUTM2A (R484Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342955	NM_001099338.2(NUTM2A):c.509C>T (p.Ala170Val)	NUTM2A (A170V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299887	NM_001099338.2(NUTM2A):c.631G>T (p.Val211Leu)	NUTM2A (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297012	NM_001099338.2(NUTM2A):c.1439G>A (p.Arg480Gln)	NUTM2A (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274402	NM_001099338.2(NUTM2A):c.2225T>C (p.Val742Ala)	NUTM2A (V742A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268023	NM_001099338.2(NUTM2A):c.2255C>T (p.Ser752Leu)	NUTM2A (S752L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255155	NM_001099338.2(NUTM2A):c.1534A>G (p.Ile512Val)	NUTM2A (I512V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225921	NM_001099338.2(NUTM2A):c.748G>C (p.Ala250Pro)	NUTM2A (A250P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222287	NM_001099338.2(NUTM2A):c.2497A>G (p.Thr833Ala)	NUTM2A (T833A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206681	NM_001099338.2(NUTM2A):c.899C>G (p.Pro300Arg)	NUTM2A (P300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 1340291	GRCh37/hg19 10q23.1-23.31(chr10:87232436-89649679)x1	ADIRF, ADIRF-AS1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1068879	NC_000010.10:g.(?_88683123)_(89725321_?)del	PAPSS2, MMRN2 +13 more	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 831623	NC_000010.11:g.(?_86755016)_(87965564_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 661198	NC_000010.11:g.(?_86755016)_(87965482_?)del	ADIRF, ADIRF-AS1 +61 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 660158	NC_000010.11:g.(?_86875868)_(87894129_?)del	ADIRF, ADIRF-AS1 +57 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 646972	NC_000010.11:g.(?_86838866)_(87965482_?)del	ADIRF, ADIRF-AS1 +60 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 583733	NC_000010.10:g.(?_88649809)_(89725239_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	ADIRF, ADIRF-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 93