ClinVar for Gene (Select 23499) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1217

<< First< Prev

Page of 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336361	NM_001394062.1(MACF1):c.17521G>A (p.Glu5841Lys)	MACF1 (E1864K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292503	NM_012090.5(MACF1):c.92C>T (p.Ser31Leu)	MACF1 (S31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292502	NM_001394062.1(MACF1):c.20704G>A (p.Asp6902Asn)	MACF1 (D4843N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292501	NM_001394062.1(MACF1):c.19874T>C (p.Leu6625Ser)	MACF1 (L2651S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292500	NM_001394062.1(MACF1):c.12049G>A (p.Val4017Met)	LOC126805711, MACF1 (V1955M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292499	NM_001394062.1(MACF1):c.18451A>G (p.Ile6151Val)	MACF1 (I2177V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292498	NM_001394062.1(MACF1):c.992T>C (p.Leu331Pro)	MACF1 (L331P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292497	NM_001394062.1(MACF1):c.16502A>G (p.His5501Arg)	MACF1 (H3439R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292496	NM_001394062.1(MACF1):c.1126C>G (p.Leu376Val)	MACF1 (L381V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292495	NM_001394062.1(MACF1):c.11935C>T (p.His3979Tyr)	MACF1 (H3979Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292494	NM_001394062.1(MACF1):c.15512T>C (p.Val5171Ala)	MACF1 (V3109A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292493	NM_001394062.1(MACF1):c.22593C>G (p.Asn7531Lys)	MACF1 (N5406K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292492	NM_001394062.1(MACF1):c.14405T>G (p.Phe4802Cys)	MACF1 (F2740C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292491	NM_001394062.1(MACF1):c.19706C>T (p.Ala6569Val)	MACF1 (A4510V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292489	NM_001394062.1(MACF1):c.2890C>T (p.Leu964Phe)	MACF1 (L964F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292488	NM_001394062.1(MACF1):c.12473C>T (p.Ala4158Val)	MACF1 (A4158V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292487	NM_001394062.1(MACF1):c.15748G>T (p.Ala5250Ser)	MACF1 (A5250S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292486	NM_001394062.1(MACF1):c.14587T>G (p.Ser4863Ala)	LOC114803468, MACF1 (S4863A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292485	NM_001394062.1(MACF1):c.1012C>A (p.Pro338Thr)	MACF1 (P338T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292484	NM_001394062.1(MACF1):c.15986A>G (p.Gln5329Arg)	MACF1 (Q5329R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292483	NM_001394062.1(MACF1):c.18889C>T (p.Pro6297Ser)	MACF1 (P2323S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292482	NM_001394062.1(MACF1):c.16753G>A (p.Val5585Ile)	MACF1 (V5585I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3292481	NM_001394062.1(MACF1):c.15794A>G (p.Asn5265Ser)	MACF1 (N3203S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292479	NM_001394062.1(MACF1):c.19167T>A (p.Asn6389Lys)	MACF1 (N6389K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292478	NM_001394062.1(MACF1):c.1874A>C (p.Glu625Ala)	MACF1 (E625A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292477	NM_001394062.1(MACF1):c.15685C>T (p.Arg5229Cys)	MACF1 (R3167C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292476	NM_001394062.1(MACF1):c.2591A>G (p.Asn864Ser)	MACF1 (N869S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292475	NM_001394062.1(MACF1):c.4103G>T (p.Arg1368Leu)	MACF1 (R1368L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292474	NM_001394062.1(MACF1):c.3944C>T (p.Thr1315Met)	MACF1 (T1320M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292473	NM_001394062.1(MACF1):c.12758T>C (p.Phe4253Ser)	MACF1 (F4253S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292472	NM_001394062.1(MACF1):c.611C>G (p.Ala204Gly)	MACF1 (A204G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256875	NM_001394062.1(MACF1):c.18343del (p.Ala6115fs)	MACF1 (A2141fs +2 more)	Deletion (frameshift variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3253418	NM_001394062.1(MACF1):c.14090A>G (p.Glu4697Gly)	MACF1 (E2635G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252521	NM_001394062.1(MACF1):c.20592del (p.Glu6866fs)	MACF1 (E2892fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3251770	NM_001394062.1(MACF1):c.15032G>A (p.Arg5011Lys)	LOC114803468, MACF1 (R2949K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251055	NM_001394062.1(MACF1):c.4997G>A (p.Ser1666Asn)	MACF1 (S1666N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3250855	NM_001394062.1(MACF1):c.11584C>G (p.Leu3862Val)	MACF1 (L1800V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250565	NM_001394062.1(MACF1):c.336G>A (p.Ala112=)	MACF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3250426	NM_001394062.1(MACF1):c.15205C>A (p.Leu5069Met)	MACF1 (L3007M +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3242052	NM_001394062.1(MACF1):c.11137C>T (p.Arg3713Cys)	MACF1 (R1651C +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3239501	NM_001394062.1(MACF1):c.14195A>C (p.Asp4732Ala)	MACF1 (D2670A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239382	NM_001394062.1(MACF1):c.7932G>C (p.Gln2644His)	MACF1 (Q2644H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3236036	NM_001394062.1(MACF1):c.3034del (p.Arg1012fs)	MACF1 (R1012fs +1 more)	Deletion (frameshift variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3234874	NM_001394062.1(MACF1):c.17839A>G (p.Ile5947Val)	MACF1 (I1970V +2 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3234815	NM_001394062.1(MACF1):c.5166A>T (p.Glu1722Asp)	MACF1 (E1722D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3234814	NM_001394062.1(MACF1):c.5164G>A (p.Glu1722Lys)	MACF1 (E1722K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3234732	NM_001394062.1(MACF1):c.3239A>G (p.Gln1080Arg)	MACF1 (Q1080R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234109	NM_001394062.1(MACF1):c.440A>C (p.Lys147Thr)	MACF1 (K147T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3233551	NM_001394062.1(MACF1):c.3508G>A (p.Gly1170Ser)	MACF1 (G1170S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121895	NM_001394062.1(MACF1):c.16174C>G (p.Arg5392Gly)	MACF1 (R3330G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121894	NM_001394062.1(MACF1):c.15203A>G (p.Tyr5068Cys)	MACF1 (Y3006C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121893	NM_001394062.1(MACF1):c.14462C>T (p.Pro4821Leu)	MACF1 (P2759L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121892	NM_001394062.1(MACF1):c.14296C>T (p.Arg4766Cys)	MACF1 (R4766C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121891	NM_001394062.1(MACF1):c.14260A>C (p.Ile4754Leu)	MACF1 (I2692L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121890	NM_001394062.1(MACF1):c.14003C>A (p.Thr4668Asn)	MACF1 (T2606N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121889	NM_001394062.1(MACF1):c.13978A>C (p.Ile4660Leu)	MACF1 (I2598L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121888	NM_001394062.1(MACF1):c.13156A>G (p.Thr4386Ala)	MACF1 (T2324A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121887	NM_001394062.1(MACF1):c.627C>G (p.Ile209Met)	MACF1 (I214M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121886	NM_001394062.1(MACF1):c.12388C>G (p.Leu4130Val)	MACF1 (L2068V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121885	NM_001394062.1(MACF1):c.11822G>A (p.Gly3941Glu)	MACF1 (G3941E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121884	NM_001394062.1(MACF1):c.11228A>G (p.Asn3743Ser)	MACF1 (N1681S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121883	NM_001394062.1(MACF1):c.3994C>G (p.Gln1332Glu)	MACF1 (Q1332E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121882	NM_001394062.1(MACF1):c.3977C>G (p.Thr1326Arg)	MACF1 (T1326R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121881	NM_001394062.1(MACF1):c.3577T>C (p.Ser1193Pro)	MACF1 (S1193P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121879	NM_001394062.1(MACF1):c.3296T>G (p.Leu1099Trp)	MACF1 (L1104W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121878	NM_001394062.1(MACF1):c.3028C>T (p.Arg1010Cys)	MACF1 (R1015C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121877	NM_001394062.1(MACF1):c.2660G>A (p.Cys887Tyr)	MACF1 (C887Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121876	NM_001394062.1(MACF1):c.2426C>G (p.Ser809Cys)	MACF1 (S814C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121875	NM_001394062.1(MACF1):c.2008C>T (p.Arg670Trp)	MACF1 (R670W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121873	NM_001394062.1(MACF1):c.22406G>A (p.Arg7469Gln)	MACF1 (R3429Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121872	NM_001394062.1(MACF1):c.21830G>A (p.Arg7277His)	MACF1 (R3297H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121871	NM_001394062.1(MACF1):c.21723G>C (p.Gln7241His)	MACF1 (Q5182H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121869	NM_001394062.1(MACF1):c.21190G>A (p.Gly7064Arg)	MACF1 (G3090R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121868	NM_001394062.1(MACF1):c.20950A>G (p.Asn6984Asp)	MACF1 (N3010D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121867	NM_001394062.1(MACF1):c.20024T>A (p.Leu6675Gln)	MACF1 (L2701Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121866	NM_001394062.1(MACF1):c.19934G>T (p.Arg6645Leu)	MACF1 (R6645L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121865	NM_001394062.1(MACF1):c.1289A>C (p.Lys430Thr)	MACF1 (K435T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121864	NM_001394062.1(MACF1):c.18936T>G (p.Ile6312Met)	MACF1 (I2338M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121863	NM_001394062.1(MACF1):c.18896C>G (p.Thr6299Arg)	MACF1 (T2325R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121862	NM_001394062.1(MACF1):c.18864G>C (p.Glu6288Asp)	MACF1 (E4229D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121860	NM_001394062.1(MACF1):c.18310C>G (p.Leu6104Val)	MACF1 (L2130V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121859	NM_001394062.1(MACF1):c.18272C>T (p.Ala6091Val)	MACF1 (A6091V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121858	NM_001394062.1(MACF1):c.18161G>A (p.Arg6054His)	MACF1 (R2080H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121857	NM_001394062.1(MACF1):c.18007C>T (p.Pro6003Ser)	MACF1 (P2029S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121856	NM_001394062.1(MACF1):c.17988+727G>C	MACF1 (E2022Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121855	NM_001394062.1(MACF1):c.17948G>A (p.Arg5983Gln)	MACF1 (R2006Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121854	NM_001394062.1(MACF1):c.17692C>T (p.Pro5898Ser)	MACF1 (P3836S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121852	NM_001394062.1(MACF1):c.17391A>G (p.Lys5797=)	MACF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3121851	NM_001394062.1(MACF1):c.17304T>A (p.Asp5768Glu)	MACF1 (D3706E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121850	NM_001394062.1(MACF1):c.16547C>A (p.Ser5516Tyr)	MACF1 (S5516Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3069069	NM_001394062.1(MACF1):c.19412A>G (p.Glu6471Gly)	MACF1 (E2497G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067231	NM_001394062.1(MACF1):c.9062C>T (p.Thr3021Ile)	MACF1 (T3021I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3065758	NM_001394062.1(MACF1):c.16804-2A>G	MACF1	Single nucleotide variant (splice acceptor variant)	Lissencephaly 9 with complex brainstem malformation	GLikely pathogenic
Select item 3065486	NM_001394062.1(MACF1):c.2116A>T (p.Asn706Tyr)	MACF1 (N706Y +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 3063949	NM_001394062.1(MACF1):c.13807A>G (p.Ile4603Val)	MACF1 (I2541V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063785	NM_001394062.1(MACF1):c.3989A>G (p.Gln1330Arg)	MACF1 (Q1330R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061840	GRCh38/hg38 1p34.3(chr1:39428731-39468326)x1	MACF1	Copy number loss	Lissencephaly 9 with complex brainstem malformation +1 more	GUncertain significance
Select item 3061064	NM_001394062.1(MACF1):c.21406del (p.Tyr7136fs)	MACF1 (Y3162fs +2 more)	Deletion (frameshift variant)	MACF1-related disorder	GUncertain significance
Select item 3059853	NM_001394062.1(MACF1):c.18169G>A (p.Glu6057Lys)	MACF1 (E2083K +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3058443	NM_001394062.1(MACF1):c.20463C>T (p.Val6821=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign

<< First< Prev

Page of 13