MINAR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 3052086	NM_001330376.2(TMED3):c.459C>T (p.Val153=)	MINAR1, TMED3	Single nucleotide variant (synonymous variant)	TMED3-related disorder	GLikely benign
Select item 3031394	NM_001330376.2(TMED3):c.492C>A (p.Thr164=)	MINAR1, TMED3	Single nucleotide variant (synonymous variant)	TMED3-related disorder	GLikely benign
Select item 3053767	NC_000015.10:g.79411508A>G	MINAR1, TMED3	Single nucleotide variant (3 prime UTR variant)	TMED3-related disorder	GLikely benign
Select item 778497	NM_015206.3(MINAR1):c.84G>A (p.Gln28=)	MINAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3126521	NM_015206.3(MINAR1):c.87C>G (p.Asp29Glu)	MINAR1 (D29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598607	NM_015206.3(MINAR1):c.115G>A (p.Asp39Asn)	MINAR1 (D39N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126483	NM_015206.3(MINAR1):c.122C>T (p.Ser41Leu)	MINAR1 (S41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557260	NM_015206.3(MINAR1):c.169G>A (p.Asp57Asn)	MINAR1 (D57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126490	NM_015206.3(MINAR1):c.184G>A (p.Ala62Thr)	MINAR1 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126493	NM_015206.3(MINAR1):c.195C>G (p.Phe65Leu)	MINAR1 (F65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510163	NM_015206.3(MINAR1):c.295G>A (p.Gly99Arg)	MINAR1 (G99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478055	NM_015206.3(MINAR1):c.313C>A (p.Leu105Met)	MINAR1 (L105M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126514	NM_015206.3(MINAR1):c.371C>T (p.Ser124Leu)	MINAR1 (S124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126515	NM_015206.3(MINAR1):c.386G>A (p.Cys129Tyr)	MINAR1 (C129Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126516	NM_015206.3(MINAR1):c.416G>A (p.Cys139Tyr)	MINAR1 (C139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294870	NM_015206.3(MINAR1):c.475C>G (p.Arg159Gly)	MINAR1 (R159G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513223	NM_015206.3(MINAR1):c.475C>T (p.Arg159Trp)	MINAR1 (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457038	NM_015206.3(MINAR1):c.476G>A (p.Arg159Gln)	MINAR1 (R159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294874	NM_015206.3(MINAR1):c.563G>A (p.Arg188His)	MINAR1 (R188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294877	NM_015206.3(MINAR1):c.565G>A (p.Ala189Thr)	MINAR1 (A189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126517	NM_015206.3(MINAR1):c.602A>G (p.Tyr201Cys)	MINAR1 (Y201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126518	NM_015206.3(MINAR1):c.614G>A (p.Ser205Asn)	MINAR1 (S205N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126519	NM_015206.3(MINAR1):c.625T>C (p.Cys209Arg)	MINAR1 (C209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538286	NM_015206.3(MINAR1):c.713A>C (p.Lys238Thr)	MINAR1 (K238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126520	NM_015206.3(MINAR1):c.757T>C (p.Cys253Arg)	MINAR1 (C253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126522	NM_015206.3(MINAR1):c.893C>G (p.Pro298Arg)	MINAR1 (P298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126523	NM_015206.3(MINAR1):c.956C>T (p.Pro319Leu)	MINAR1 (P319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294876	NM_015206.3(MINAR1):c.959T>A (p.Val320Asp)	MINAR1 (V320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546488	NM_015206.3(MINAR1):c.992T>C (p.Leu331Ser)	MINAR1 (L331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537452	NM_015206.3(MINAR1):c.1018T>C (p.Phe340Leu)	MINAR1 (F340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522481	NM_015206.3(MINAR1):c.1033G>A (p.Val345Met)	MINAR1 (V345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591815	NM_015206.3(MINAR1):c.1050A>T (p.Glu350Asp)	MINAR1 (E350D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458182	NM_015206.3(MINAR1):c.1057C>T (p.Arg353Cys)	MINAR1 (R353C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619049	NM_015206.3(MINAR1):c.1118C>G (p.Thr373Arg)	MINAR1 (T373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126481	NM_015206.3(MINAR1):c.1155T>A (p.Asn385Lys)	MINAR1 (N385K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126482	NM_015206.3(MINAR1):c.1168G>A (p.Glu390Lys)	MINAR1 (E390K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294873	NM_015206.3(MINAR1):c.1171G>A (p.Glu391Lys)	MINAR1 (E391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645627	NM_015206.3(MINAR1):c.1213T>C (p.Phe405Leu)	MINAR1 (F405L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2554377	NM_015206.3(MINAR1):c.1231C>T (p.Arg411Cys)	MINAR1 (R411C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520638	NM_015206.3(MINAR1):c.1232G>A (p.Arg411His)	MINAR1 (R411H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126484	NM_015206.3(MINAR1):c.1286C>T (p.Ala429Val)	MINAR1 (A429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494394	NM_015206.3(MINAR1):c.1347T>A (p.His449Gln)	MINAR1 (H449Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294881	NM_015206.3(MINAR1):c.1367A>T (p.Lys456Ile)	MINAR1 (K456I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294878	NM_015206.3(MINAR1):c.1387A>G (p.Thr463Ala)	MINAR1 (T463A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126486	NM_015206.3(MINAR1):c.1431G>C (p.Gln477His)	MINAR1 (Q477H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716411	NM_015206.3(MINAR1):c.1470G>A (p.Leu490=)	MINAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2515873	NM_015206.3(MINAR1):c.1504C>T (p.His502Tyr)	MINAR1 (H502Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475193	NM_015206.3(MINAR1):c.1525G>A (p.Asp509Asn)	MINAR1 (D509N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126487	NM_015206.3(MINAR1):c.1559A>C (p.Asp520Ala)	MINAR1 (D520A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294875	NM_015206.3(MINAR1):c.1607T>C (p.Val536Ala)	MINAR1 (V536A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530065	NM_015206.3(MINAR1):c.1655A>G (p.His552Arg)	MINAR1 (H552R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126488	NM_015206.3(MINAR1):c.1697A>G (p.Lys566Arg)	MINAR1 (K566R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126489	NM_015206.3(MINAR1):c.1706A>G (p.Asn569Ser)	MINAR1 (N569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600154	NM_015206.3(MINAR1):c.1808T>C (p.Ile603Thr)	MINAR1 (I603T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512578	NM_015206.3(MINAR1):c.1823G>A (p.Arg608Gln)	MINAR1 (R608Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594206	NM_015206.3(MINAR1):c.1896G>T (p.Gln632His)	MINAR1 (Q632H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126491	NM_015206.3(MINAR1):c.1940A>T (p.Asn647Ile)	MINAR1 (N647I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126492	NM_015206.3(MINAR1):c.1943C>T (p.Ser648Phe)	MINAR1 (S648F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294871	NM_015206.3(MINAR1):c.1957G>A (p.Gly653Ser)	MINAR1 (G653S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126494	NM_015206.3(MINAR1):c.1984C>T (p.Arg662Trp)	MINAR1 (R662W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508442	NM_015206.3(MINAR1):c.2031C>G (p.Asn677Lys)	MINAR1 (N677K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126495	NM_015206.3(MINAR1):c.2043G>C (p.Trp681Cys)	MINAR1 (W681C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294879	NM_015206.3(MINAR1):c.2050T>C (p.Ser684Pro)	MINAR1 (S684P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126496	NM_015206.3(MINAR1):c.2072G>A (p.Ser691Asn)	MINAR1 (S691N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126497	NM_015206.3(MINAR1):c.2105G>A (p.Ser702Asn)	MINAR1 (S702N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126498	NM_015206.3(MINAR1):c.2120C>T (p.Pro707Leu)	MINAR1 (P707L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126499	NM_015206.3(MINAR1):c.2130G>C (p.Arg710Ser)	MINAR1 (R710S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126500	NM_015206.3(MINAR1):c.2152G>A (p.Ala718Thr)	MINAR1 (A718T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524360	NM_015206.3(MINAR1):c.2221C>T (p.Arg741Cys)	MINAR1 (R741C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126501	NM_015206.3(MINAR1):c.2222G>A (p.Arg741His)	MINAR1 (R741H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126502	NM_015206.3(MINAR1):c.2278T>A (p.Trp760Arg)	MINAR1 (W760R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782601	NM_015206.3(MINAR1):c.2299-4G>A	MINAR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3126503	NM_015206.3(MINAR1):c.2302G>C (p.Asp768His)	MINAR1 (D768H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483531	NM_015206.3(MINAR1):c.2354A>G (p.Asp785Gly)	MINAR1 (D785G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126504	NM_015206.3(MINAR1):c.2370G>C (p.Glu790Asp)	MINAR1 (E790D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294880	NM_015206.3(MINAR1):c.2387A>G (p.His796Arg)	MINAR1 (H796R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126505	NM_015206.3(MINAR1):c.2435A>C (p.Tyr812Ser)	MINAR1 (Y812S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126506	NM_015206.3(MINAR1):c.2474G>A (p.Arg825Gln)	MINAR1 (R825Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239015	NM_015206.3(MINAR1):c.2483C>T (p.Pro828Leu)	MINAR1 (P828L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 782602	NM_015206.3(MINAR1):c.2493C>T (p.Thr831=)	MINAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3126507	NM_015206.3(MINAR1):c.2497G>A (p.Glu833Lys)	MINAR1 (E833K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126508	NM_015206.3(MINAR1):c.2509C>T (p.Arg837Trp)	MINAR1 (R837W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126509	NM_015206.3(MINAR1):c.2595G>A (p.Met865Ile)	MINAR1 (M865I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126510	NM_015206.3(MINAR1):c.2677G>A (p.Ala893Thr)	MINAR1 (A893T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126511	NM_015206.3(MINAR1):c.2696C>T (p.Ala899Val)	MINAR1 (A899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126512	NM_015206.3(MINAR1):c.2725G>A (p.Val909Met)	MINAR1 (V909M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126513	NM_015206.3(MINAR1):c.2742G>T (p.Met914Ile)	MINAR1 (M914I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2425995	NC_000015.9:g.(?_78857986)_(81282132_?)dup	ABHD17C, ADAMTS7 +19 more	Duplication	not provided	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980537	GRCh37/hg19 15q25.1(chr15:79679772-80383301)x3	MINAR1, MTHFS +4 more	Copy number gain	not provided	GUncertain significance
Select item 815739	GRCh37/hg19 15q25.1(chr15:79635680-79742970)x1	MINAR1	Copy number loss	not provided	GUncertain significance
Select item 686584	GRCh37/hg19 15q25.1(chr15:79239511-79874885)x3	ANKRD34C, MINAR1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 564223	GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2	ABHD17C, ADAMTS7 +49 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic

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