ClinVar for Gene (Select 256646) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301636	NM_001284292.2(NUTM1):c.2329G>A (p.Glu777Lys)	NUTM1 (E777K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301635	NM_001284292.2(NUTM1):c.2336G>A (p.Cys779Tyr)	NUTM1 (C751Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301633	NM_001284292.2(NUTM1):c.1844G>A (p.Gly615Glu)	NUTM1 (G587E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301632	NM_001284292.2(NUTM1):c.2173A>G (p.Met725Val)	NUTM1 (M697V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301631	NM_001284292.2(NUTM1):c.719A>C (p.Glu240Ala)	NUTM1 (E240A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301630	NM_001284292.2(NUTM1):c.2834G>A (p.Ser945Asn)	NUTM1 (S945N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301629	NM_001284292.2(NUTM1):c.911G>A (p.Arg304Gln)	NUTM1 (R276Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301628	NM_001284292.2(NUTM1):c.370G>T (p.Gly124Trp)	NUTM1 (G124W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301627	NM_001284292.2(NUTM1):c.2416C>G (p.Pro806Ala)	NUTM1 (P796A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203346	NM_001284292.2(NUTM1):c.175C>G (p.Leu59Val)	NUTM1 (L49V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203345	NM_001284292.2(NUTM1):c.910C>T (p.Arg304Trp)	NUTM1 (R304W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203344	NM_001284292.2(NUTM1):c.740G>A (p.Arg247His)	NUTM1 (R247H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203343	NM_001284292.2(NUTM1):c.712G>T (p.Val238Phe)	NUTM1 (V228F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203342	NM_001284292.2(NUTM1):c.527T>G (p.Val176Gly)	NUTM1 (V176G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203340	NM_001284292.2(NUTM1):c.3308G>A (p.Arg1103Gln)	NUTM1 (R1075Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203339	NM_001284292.2(NUTM1):c.2761C>T (p.Pro921Ser)	NUTM1 (P893S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203338	NM_001284292.2(NUTM1):c.2569G>A (p.Val857Ile)	NUTM1 (V829I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203337	NM_001284292.2(NUTM1):c.2476G>C (p.Glu826Gln)	NUTM1 (E826Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203336	NM_001284292.2(NUTM1):c.2458G>A (p.Val820Ile)	NUTM1 (V792I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203335	NM_001284292.2(NUTM1):c.2215G>T (p.Gly739Trp)	NUTM1 (G729W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203334	NM_001284292.2(NUTM1):c.2107G>A (p.Glu703Lys)	NUTM1 (E675K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203333	NM_001284292.2(NUTM1):c.281T>C (p.Phe94Ser)	NUTM1 (F94S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203332	NM_001284292.2(NUTM1):c.269T>A (p.Met90Lys)	NUTM1 (M80K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203331	NM_001284292.2(NUTM1):c.1767C>A (p.Ser589Arg)	NUTM1 (S561R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203330	NM_001284292.2(NUTM1):c.1711G>A (p.Ala571Thr)	NUTM1 (A543T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203329	NM_001284292.2(NUTM1):c.1691T>G (p.Val564Gly)	NUTM1 (V564G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203328	NM_001284292.2(NUTM1):c.1678C>T (p.Arg560Trp)	NUTM1 (R560W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203327	NM_001284292.2(NUTM1):c.1576T>C (p.Ser526Pro)	NUTM1 (S498P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203326	NM_001284292.2(NUTM1):c.1439T>C (p.Ile480Thr)	NUTM1 (I480T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203325	NM_001284292.2(NUTM1):c.1118G>A (p.Arg373His)	LOC126862098, NUTM1 (R363H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2645149	NM_001284292.2(NUTM1):c.1117del (p.Arg373fs)	LOC126862098, NUTM1 (R345fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2534865	NM_001284292.2(NUTM1):c.644G>A (p.Gly215Glu)	NUTM1 (G187E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529912	NM_001284292.2(NUTM1):c.1498A>G (p.Met500Val)	NUTM1 (M472V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495804	NM_001284292.2(NUTM1):c.2914A>G (p.Lys972Glu)	NUTM1 (K944E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469916	NM_001284292.2(NUTM1):c.3392C>T (p.Ala1131Val)	NUTM1 (A1131V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459387	NM_001284292.2(NUTM1):c.727C>T (p.Arg243Cys)	NUTM1 (R243C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427227	NC_000015.9:g.(?_34526072)_(35087019_?)del	ACTC1, GJD2 +6 more	Deletion	not provided	GPathogenic
Select item 2425304	NC_000015.9:g.(?_34526082)_(35087009_?)del	ACTC1, GJD2 +6 more	Deletion	Dilated cardiomyopathy 1R +2 more	GUncertain significance
Select item 2406137	NM_001284292.2(NUTM1):c.676C>G (p.Pro226Ala)	NUTM1 (P216A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381445	NM_001284292.2(NUTM1):c.1385A>G (p.Gln462Arg)	NUTM1 (Q434R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378571	NM_001284292.2(NUTM1):c.3428G>A (p.Arg1143Lys)	NUTM1 (R1115K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378095	NM_001284292.2(NUTM1):c.2084G>A (p.Arg695His)	NUTM1 (R685H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373941	NM_001284292.2(NUTM1):c.2918A>C (p.Asn973Thr)	NUTM1 (N973T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372820	NM_001284292.2(NUTM1):c.732G>C (p.Gln244His)	NUTM1 (Q234H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371584	NM_001284292.2(NUTM1):c.739C>T (p.Arg247Cys)	NUTM1 (R219C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369371	NM_001284292.2(NUTM1):c.1148C>T (p.Pro383Leu)	LOC126862098, NUTM1 (P373L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363229	NM_001284292.2(NUTM1):c.691C>T (p.Arg231Cys)	NUTM1 (R203C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351345	NM_001284292.2(NUTM1):c.1046C>T (p.Pro349Leu)	LOC126862098, NUTM1 (P321L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348323	NM_001284292.2(NUTM1):c.3472C>T (p.Arg1158Cys)	NUTM1 (R1130C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334253	NM_001284292.2(NUTM1):c.757C>T (p.Arg253Trp)	NUTM1 (R243W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325877	NM_001284292.2(NUTM1):c.490G>C (p.Ala164Pro)	NUTM1 (A164P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324671	NM_001284292.2(NUTM1):c.352G>A (p.Val118Ile)	NUTM1 (V90I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307166	NM_001284292.2(NUTM1):c.2662C>T (p.Pro888Ser)	NUTM1 (P860S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297202	NM_001284292.2(NUTM1):c.3431G>A (p.Arg1144Gln)	NUTM1 (R1116Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287483	NM_001284292.2(NUTM1):c.1085C>T (p.Pro362Leu)	LOC126862098, NUTM1 (P352L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283186	NM_001284292.2(NUTM1):c.2254C>A (p.Leu752Met)	NUTM1 (L742M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275889	NM_001284292.2(NUTM1):c.431C>T (p.Ser144Leu)	NUTM1 (S144L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274618	NM_001284292.2(NUTM1):c.2600G>A (p.Gly867Asp)	NUTM1 (G839D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269366	NM_001284292.2(NUTM1):c.253C>T (p.Pro85Ser)	NUTM1 (P57S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263822	NM_001284292.2(NUTM1):c.1237A>T (p.Thr413Ser)	LOC126862098, NUTM1 (T385S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239771	NM_001284292.2(NUTM1):c.145G>A (p.Ala49Thr)	NUTM1 (A21T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239543	NM_001284292.2(NUTM1):c.2717C>T (p.Pro906Leu)	NUTM1 (P878L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238588	NM_001284292.2(NUTM1):c.1171A>G (p.Ile391Val)	LOC126862098, NUTM1 (I381V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223735	NM_001284292.2(NUTM1):c.1111G>C (p.Ala371Pro)	LOC126862098, NUTM1 (A361P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210981	NM_001284292.2(NUTM1):c.2053G>A (p.Gly685Arg)	NUTM1 (G657R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1317777	NC_000015.10:g.34343396G>A	NOP10, NUTM1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 769408	NM_001284292.2(NUTM1):c.2527C>T (p.Pro843Ser)	NUTM1 (P833S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713020	NM_001284292.2(NUTM1):c.3127G>A (p.Glu1043Lys)	NUTM1 (E1015K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 585331	der(15)t(5:15)(q23.2;q15.1)	MGA, NUTM1	Translocation	Spindle cell sarcoma	GPathogenic
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 403246	NC_000015.10:g.34343662G>C	NUTM1, NOP10 (K10N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394689	GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3	ARHGAP11A, AVEN +12 more	Copy number gain	See cases	GUncertain significance
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 150413	GRCh38/hg38 15q14(chr15:34334908-34671997)x1	GOLGA8A, GOLGA8B +28 more	Copy number loss	See cases	GLikely benign
Select item 149673	GRCh38/hg38 15q14(chr15:34334908-34549221)x1	GOLGA8A, GOLGA8B +21 more	Copy number loss	See cases	GLikely benign
Select item 149672	GRCh38/hg38 15q14(chr15:34334908-34549221)x3	GOLGA8A, GOLGA8B +21 more	Copy number gain	See cases	GLikely benign
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic

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