ClinVar for Gene (Select 254394) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 153

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352333	NM_017696.3(MCM9):c.2709A>G (p.Glu903=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	MCM9-related disorder	GLikely benign
Select item 3352163	NM_017696.3(MCM9):c.2144A>T (p.Asp715Val)	MCM9 (D647V +1 more)	Single nucleotide variant (missense variant +2 more)	MCM9-related disorder	GLikely benign
Select item 3317927	NM_014034.3(ASF1A):c.430C>T (p.Pro144Ser)	ASF1A, MCM9 (P144S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317917	NM_014034.3(ASF1A):c.554G>A (p.Gly185Glu)	ASF1A, MCM9 (G185E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293714	NM_017696.3(MCM9):c.2200C>G (p.His734Asp)	MCM9 (H734D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293712	NM_017696.3(MCM9):c.718A>G (p.Ile240Val)	MCM9 (I174V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293711	NM_017696.3(MCM9):c.225G>T (p.Arg75Ser)	MCM9 (R75S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293710	NM_017696.3(MCM9):c.1909G>A (p.Glu637Lys)	MCM9 (E569K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293709	NM_017696.3(MCM9):c.1426G>A (p.Gly476Ser)	MCM9 (G434S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293708	NM_017696.3(MCM9):c.1681G>A (p.Ala561Thr)	MCM9 (A561T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293707	NM_017696.3(MCM9):c.94A>G (p.Arg32Gly)	MCM9 (R32G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3293706	NM_017696.3(MCM9):c.944T>A (p.Phe315Tyr)	MCM9 (F249Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3254813	NM_017696.3(MCM9):c.672_673delinsC (p.Glu225fs)	MCM9 (E159fs +1 more)	Indel (frameshift variant +1 more)	46,XX ovarian dysgenesis-short stature syndrome	GPathogenic
Select item 3254812	NM_017696.3(MCM9):c.1529-7C>G	MCM9	Single nucleotide variant (intron variant)	46,XX ovarian dysgenesis-short stature syndrome	GLikely pathogenic
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3239011	NM_017696.3(MCM9):c.1996C>T (p.Arg666Trp)	MCM9 (R598W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3124420	NM_017696.3(MCM9):c.3425A>G (p.Lys1142Arg)	MCM9 (K1074R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124419	NM_017696.3(MCM9):c.3420A>T (p.Arg1140Ser)	MCM9 (R1072S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124418	NM_017696.3(MCM9):c.3419G>T (p.Arg1140Ile)	MCM9 (R1140I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124417	NM_017696.3(MCM9):c.3004G>A (p.Gly1002Arg)	MCM9 (G1002R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3124416	NM_017696.3(MCM9):c.2801C>T (p.Ser934Phe)	MCM9 (S866F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124415	NM_017696.3(MCM9):c.2708A>G (p.Glu903Gly)	MCM9 (E835G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124414	NM_017696.3(MCM9):c.2449A>G (p.Ser817Gly)	MCM9 (S817G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3124413	NM_017696.3(MCM9):c.2327T>G (p.Ile776Ser)	MCM9 (I776S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3124412	NM_017696.3(MCM9):c.1754G>A (p.Arg585His)	MCM9 (R519H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124411	NM_017696.3(MCM9):c.1699C>T (p.Arg567Trp)	MCM9 (R501W +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3067201	NM_017696.3(MCM9):c.2889C>T (p.Asp963=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3056676	NM_017696.3(MCM9):c.1150+16A>G	MCM9 (N281S +3 more)	Single nucleotide variant (missense variant +2 more)	MCM9-related disorder	GBenign
Select item 3049781	NM_017696.3(MCM9):c.1680C>T (p.Asn560=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	MCM9-related disorder	GLikely benign
Select item 3037765	NM_017696.3(MCM9):c.15A>C (p.Gln5His)	MCM9 (Q5H)	Single nucleotide variant (missense variant +2 more)	MCM9-related disorder	GLikely benign
Select item 3035432	NM_017696.3(MCM9):c.216A>C (p.Ala72=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	MCM9-related disorder	GLikely benign
Select item 2656890	NM_014034.3(ASF1A):c.354T>C (p.Thr118=)	ASF1A, MCM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656889	NM_017696.3(MCM9):c.1404C>T (p.Ser468=)	MCM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656888	NM_017696.3(MCM9):c.3417G>A (p.Met1139Ile)	MCM9 (M1071I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2618977	NM_017696.3(MCM9):c.1842T>A (p.Asn614Lys)	MCM9 (N614K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2562575	NM_017696.3(MCM9):c.2840A>C (p.Lys947Thr)	MCM9 (K879T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2558856	NM_017696.3(MCM9):c.3256C>A (p.Pro1086Thr)	MCM9 (P1018T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2552736	NM_017696.3(MCM9):c.1799T>C (p.Met600Thr)	MCM9 (M532T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548297	NM_017696.3(MCM9):c.2336G>A (p.Ser779Asn)	MCM9 (S779N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2535079	NM_017696.3(MCM9):c.2315T>C (p.Met772Thr)	MCM9 (M704T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2530782	NM_017696.3(MCM9):c.2413G>A (p.Glu805Lys)	MCM9 (E805K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2525249	NM_017696.3(MCM9):c.1812G>T (p.Met604Ile)	MCM9 (M536I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523642	NM_017696.3(MCM9):c.2287C>T (p.Pro763Ser)	MCM9 (P695S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2518523	NM_017696.3(MCM9):c.62A>G (p.His21Arg)	MCM9 (H21R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515519	NM_017696.3(MCM9):c.2329T>C (p.Ser777Pro)	MCM9 (S709P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2511204	NM_014034.3(ASF1A):c.583G>A (p.Val195Ile)	ASF1A, MCM9 (V195I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510109	NM_017696.3(MCM9):c.3298A>G (p.Lys1100Glu)	MCM9 (K1032E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2490756	NM_014034.3(ASF1A):c.366A>C (p.Leu122Phe)	ASF1A, MCM9 (L122F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489942	NM_014034.3(ASF1A):c.87G>T (p.Glu29Asp)	ASF1A, MCM9 (E29D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489276	NM_017696.3(MCM9):c.2644C>G (p.His882Asp)	MCM9 (H814D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488051	NM_017696.3(MCM9):c.1188G>C (p.Trp396Cys)	MCM9 (W330C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484487	NM_017696.3(MCM9):c.1837G>T (p.Val613Leu)	MCM9 (V545L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480450	NM_017696.3(MCM9):c.1777G>A (p.Ala593Thr)	MCM9 (A593T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479254	NM_017696.3(MCM9):c.274A>T (p.Met92Leu)	MCM9 (M92L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2478788	NM_017696.3(MCM9):c.3232A>G (p.Arg1078Gly)	MCM9 (R1078G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476668	NM_017696.3(MCM9):c.472G>A (p.Ala158Thr)	MCM9 (A158T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476019	NM_017696.3(MCM9):c.2858C>G (p.Pro953Arg)	MCM9 (P953R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2465058	NM_017696.3(MCM9):c.2279T>G (p.Val760Gly)	MCM9 (V692G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2461771	NM_017696.3(MCM9):c.403C>A (p.Leu135Met)	MCM9 (L69M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443173	NM_017696.3(MCM9):c.1742G>A (p.Arg581His)	MCM9 (R513H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2443172	NM_017696.3(MCM9):c.304+1G>A	MCM9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2407863	NM_017696.3(MCM9):c.1997G>A (p.Arg666Gln)	MCM9 (R666Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2405421	NM_017696.3(MCM9):c.3142G>A (p.Gly1048Ser)	MCM9 (G980S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2404861	NM_017696.3(MCM9):c.2656A>G (p.Arg886Gly)	MCM9 (R818G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2386440	NM_017696.3(MCM9):c.3034G>C (p.Glu1012Gln)	MCM9 (E944Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2376654	NM_017696.3(MCM9):c.892G>A (p.Asp298Asn)	MCM9 (D298N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2372468	NM_014034.3(ASF1A):c.485A>G (p.Asp162Gly)	ASF1A, MCM9 (D162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367070	NM_017696.3(MCM9):c.544A>G (p.Lys182Glu)	MCM9 (K116E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364336	NM_017696.3(MCM9):c.2390T>C (p.Ile797Thr)	MCM9 (I729T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2348412	NM_017696.3(MCM9):c.1657C>G (p.Gln553Glu)	MCM9 (Q553E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346317	NM_017696.3(MCM9):c.2495C>G (p.Ser832Cys)	MCM9 (S832C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2327175	NM_017696.3(MCM9):c.790A>C (p.Lys264Gln)	MCM9 (K264Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325464	NM_017696.3(MCM9):c.2981C>T (p.Ser994Leu)	MCM9 (S926L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2313635	NM_014034.3(ASF1A):c.470C>T (p.Thr157Ile)	ASF1A, MCM9 (T157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305181	NM_017696.3(MCM9):c.2566G>A (p.Ala856Thr)	MCM9 (A856T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2300039	NM_017696.3(MCM9):c.3290G>A (p.Arg1097His)	MCM9 (R1029H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2297003	NM_017696.3(MCM9):c.1984C>G (p.Gln662Glu)	MCM9 (P613R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295817	NM_017696.3(MCM9):c.2818C>T (p.His940Tyr)	MCM9 (H940Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291037	NM_017696.3(MCM9):c.1688G>A (p.Arg563Gln)	MCM9 (R497Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2285206	NM_014034.3(ASF1A):c.47C>G (p.Ser16Cys)	ASF1A, MCM9 (S16C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2284481	NM_017696.3(MCM9):c.1871C>G (p.Pro624Arg)	MCM9 (P556R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2282273	NM_017696.3(MCM9):c.2392G>A (p.Gly798Arg)	MCM9 (G798R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2281135	NM_017696.3(MCM9):c.2777A>G (p.Lys926Arg)	MCM9 (K858R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2272257	NM_017696.3(MCM9):c.431A>G (p.Asp144Gly)	MCM9 (D144G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259294	NM_017696.3(MCM9):c.2087A>G (p.Asn696Ser)	MCM9 (N628S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2257111	NM_017696.3(MCM9):c.1495C>A (p.Arg499Ser)	MCM9 (R457S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255384	NM_017696.3(MCM9):c.1487A>G (p.Asp496Gly)	MCM9 (D454G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250621	NM_017696.3(MCM9):c.2567C>T (p.Ala856Val)	MCM9 (A856V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245939	NM_017696.3(MCM9):c.3319C>T (p.Arg1107Cys)	MCM9 (R1039C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245333	NM_017696.3(MCM9):c.3320G>A (p.Arg1107His)	MCM9 (R1107H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2245078	NM_017696.3(MCM9):c.3331G>A (p.Glu1111Lys)	MCM9 (E1043K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2232600	NM_017696.3(MCM9):c.737A>G (p.Gln246Arg)	MCM9 (Q246R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2227760	NM_017696.3(MCM9):c.272C>G (p.Ser91Cys)	MCM9 (S91C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2227224	NM_017696.3(MCM9):c.2045G>A (p.Gly682Glu)	MCM9 (G682E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2223336	NM_014034.3(ASF1A):c.497G>A (p.Ser166Asn)	ASF1A, MCM9 (S166N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221418	NM_017696.3(MCM9):c.2434G>A (p.Ala812Thr)	MCM9 (A812T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2