ClinVar for Gene (Select 23499) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357110	NM_001394062.1(MACF1):c.11119G>T (p.Ala3707Ser)	MACF1 (A1645S +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GLikely benign
Select item 3354964	NM_001394062.1(MACF1):c.16178A>G (p.Lys5393Arg)	MACF1 (K1525R +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3353126	NM_001394062.1(MACF1):c.20974C>T (p.Leu6992=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3352883	NM_001394062.1(MACF1):c.14346C>T (p.Ala4782=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3352832	NM_001394062.1(MACF1):c.15548G>A (p.Cys5183Tyr)	MACF1 (C3121Y +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GLikely benign
Select item 3352734	NM_001394062.1(MACF1):c.4544A>G (p.Asp1515Gly)	MACF1 (D1515G +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3352194	NM_001394062.1(MACF1):c.16713C>T (p.Asn5571=)	MACF1	Single nucleotide variant (synonymous variant +1 more)	MACF1-related disorder	GLikely benign
Select item 3352169	NM_001394062.1(MACF1):c.12000A>G (p.Gln4000=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3351956	NM_001394062.1(MACF1):c.14842A>G (p.Met4948Val)	LOC114803468, MACF1 (M2886V +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GLikely benign
Select item 3351084	NM_001394062.1(MACF1):c.20928G>A (p.Thr6976=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3349148	NM_001394062.1(MACF1):c.11950C>T (p.Arg3984Ter)	LOC126805711, MACF1 (R1922* +1 more)	Single nucleotide variant (nonsense)	MACF1-related disorder	GUncertain significance
Select item 3347848	NM_001394062.1(MACF1):c.2252C>G (p.Thr751Arg)	MACF1 (T751R +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3347033	NM_001394062.1(MACF1):c.1648A>G (p.Lys550Glu)	MACF1 (K550E +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3346389	NM_001394062.1(MACF1):c.22505T>C (p.Phe7502Ser)	MACF1 (F3462S +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3346275	NM_001394062.1(MACF1):c.18128A>C (p.Glu6043Ala)	MACF1 (E2069A +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3346031	NM_001394062.1(MACF1):c.2043T>G (p.Val681=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3342707	NM_001394062.1(MACF1):c.4024G>T (p.Val1342Leu)	MACF1 (V1342L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342099	NM_001394062.1(MACF1):c.829G>C (p.Asp277His)	MACF1 (D277H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341739	NM_001394062.1(MACF1):c.15477C>T (p.Ile5159=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341706	NM_001394062.1(MACF1):c.18399C>T (p.Ser6133=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3341685	NM_001394062.1(MACF1):c.15787A>G (p.Ile5263Val)	MACF1 (I3201V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3337262	NM_001394062.1(MACF1):c.22462G>A (p.Gly7488Arg)	MACF1 (G3448R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337261	NM_001394062.1(MACF1):c.18046C>T (p.Arg6016Cys)	MACF1 (R2042C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337260	NM_001394062.1(MACF1):c.12920A>G (p.Gln4307Arg)	MACF1 (Q2245R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +2 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 +2 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

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