MACF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 155202	GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1	AKIRIN1, BMP8A +53 more	Copy number loss	See cases	GLikely benign
Select item 3030831	NM_012090.5(MACF1):c.-9G>A	MACF1	Single nucleotide variant (5 prime UTR variant)	MACF1-related disorder	GLikely benign
Select item 2848268	NM_012090.5(MACF1):c.39_56dup (p.Ser25_Tyr26insCysArgSerGluArgSer)	MACF1	Duplication (inframe insertion)	not provided +2 more	GLikely benign
Select item 2053003	NM_012090.5(MACF1):c.39ATGTCGGAGTGAGCGGTC[3] (p.Ser25_Tyr26insCysArgSerGluArgSerCysArgSerGluArgSer)	MACF1	Microsatellite (inframe insertion)	not provided	GBenign
Select item 2085771	NM_012090.5(MACF1):c.39_56del (p.14CRSERS[1])	MACF1	Deletion (inframe deletion)	not provided	GUncertain significance
Select item 1314745	NM_012090.5(MACF1):c.35G>A (p.Arg12Gln)	MACF1 (R12Q)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +2 more	GConflicting classifications of pathogenicity
Select item 2186705	NM_012090.5(MACF1):c.54_71dup (p.Ser25_Tyr26insCysArgSerGluArgSer)	MACF1	Duplication (inframe insertion)	not provided	GUncertain significance
Select item 2072914	NM_012090.5(MACF1):c.54_71del (p.14CRSERS[1])	MACF1	Deletion (inframe deletion)	not provided	GUncertain significance
Select item 3020176	NM_012090.5(MACF1):c.52C>T (p.Arg18Trp)	MACF1 (R18W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638687	NM_012090.5(MACF1):c.59_76del (p.14CRSERS[1])	MACF1	Deletion (inframe deletion)	not provided	GUncertain significance
Select item 1878699	NM_012090.5(MACF1):c.78del (p.Ser25_Tyr26insTer)	MACF1	Deletion (nonsense)	not provided	GUncertain significance
Select item 1026897	NM_012090.5(MACF1):c.79A>G (p.Arg27Gly)	MACF1 (R27G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714917	NM_012090.5(MACF1):c.84C>T (p.Ser28=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973953	NM_012090.5(MACF1):c.89G>A (p.Arg30Gln)	MACF1 (R30Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1258911	NM_012090.5(MACF1):c.93G>A (p.Ser31=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1715868	NM_012090.5(MACF1):c.145C>A (p.Leu49Met)	MACF1 (L49M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577801	NM_012090.5(MACF1):c.163C>T (p.Arg55Trp)	MACF1 (R55W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711811	NM_012090.5(MACF1):c.179C>T (p.Ser60Leu)	MACF1 (S60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672334	NM_012090.5(MACF1):c.180G>A (p.Ser60=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872257	NM_012090.5(MACF1):c.220+15C>G	MACF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279892	NM_012090.5(MACF1):c.220+28C>T	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258058	NM_012090.5(MACF1):c.220+100C>T	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181179	NM_012090.5(MACF1):c.220+151C>T	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283515	NM_001394062.1(MACF1):c.110-210G>A	LOC129930209, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265512	NM_001394062.1(MACF1):c.110-207G>A	LOC129930209, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280302	NM_001394062.1(MACF1):c.110-136C>A	LOC129930210, MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1972411	NM_001394062.1(MACF1):c.138G>A (p.Thr46=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671900	NM_001394062.1(MACF1):c.171+2T>C	MACF1	Single nucleotide variant (splice donor variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2573563	NM_001394062.1(MACF1):c.171+3A>C	MACF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2886767	NM_001394062.1(MACF1):c.172-3C>T	MACF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 983274	NM_001394062.1(MACF1):c.188A>G (p.Asn63Ser)	MACF1 (N100S +1 more)	Single nucleotide variant (missense variant)	Spectraplakinopathy type I +3 more	GConflicting classifications of pathogenicity
Select item 2497768	NM_001394062.1(MACF1):c.190G>T (p.Asp64Tyr)	MACF1 (D101Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939466	NM_001394062.1(MACF1):c.208C>T (p.Arg70Trp)	MACF1 (R107W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581980	NM_001394062.1(MACF1):c.232C>G (p.Leu78Val)	MACF1 (L115V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1253323	NM_001394062.1(MACF1):c.358-158G>A	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1031171	NM_001394062.1(MACF1):c.358C>G (p.Pro120Ala)	MACF1 (P125A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2663709	NM_001394062.1(MACF1):c.386A>G (p.His129Arg)	MACF1 (H129R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789415	NM_001394062.1(MACF1):c.430C>T (p.Arg144Ter)	MACF1 (R144* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3020060	NM_001394062.1(MACF1):c.431G>A (p.Arg144Gln)	MACF1 (R144Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970942	NM_001394062.1(MACF1):c.436-19G>A	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971555	NM_001394062.1(MACF1):c.436-14T>C	MACF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2638688	NM_001394062.1(MACF1):c.528+10738A>G	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638689	NM_001394062.1(MACF1):c.528+11394G>A	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2845762	NM_001394062.1(MACF1):c.544A>G (p.Ile182Val)	MACF1 (I182V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054847	NM_001394062.1(MACF1):c.582A>G (p.Lys194=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2662139	NM_001394062.1(MACF1):c.588_590del (p.Leu197del)	MACF1 (L197del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3051161	NM_001394062.1(MACF1):c.596C>T (p.Thr199Ile)	MACF1 (T199I +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2032257	NM_001394062.1(MACF1):c.621A>G (p.Thr207=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	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 2131628	NM_001394062.1(MACF1):c.647C>G (p.Ser216Cys)	MACF1 (S216C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1714791	NM_001394062.1(MACF1):c.647C>T (p.Ser216Phe)	MACF1 (S216F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631319	NM_001394062.1(MACF1):c.677_679dup (p.Ala226_Leu227insPro)	MACF1	Duplication (inframe_insertion)	MACF1-related disorder	GUncertain significance
Select item 2904453	NM_001394062.1(MACF1):c.689G>A (p.Arg230Gln)	MACF1 (R230Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237468	NM_001394062.1(MACF1):c.695+82T>C	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274777	NM_001394062.1(MACF1):c.695+188C>T	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282181	NM_001394062.1(MACF1):c.696-199G>A	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269674	NM_001394062.1(MACF1):c.696-76A>G	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2090291	NM_001394062.1(MACF1):c.721G>T (p.Val241Leu)	MACF1 (V241L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325546	NM_001394062.1(MACF1):c.744G>T (p.Glu248Asp)	MACF1 (E248D +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GConflicting classifications of pathogenicity
Select item 1264063	NM_001394062.1(MACF1):c.756G>A (p.Gln252=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 2092603	NM_001394062.1(MACF1):c.792C>T (p.Arg264=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043257	NM_001394062.1(MACF1):c.809-10TC[3]	MACF1	Microsatellite (intron variant)	MACF1-related disorder	GLikely benign
Select item 1978001	NM_001394062.1(MACF1):c.822A>G (p.Pro274=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037818	NM_001394062.1(MACF1):c.852T>C (p.Tyr284=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503281	NM_001394062.1(MACF1):c.854T>G (p.Val285Gly)	MACF1 (V285G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522347	NM_001394062.1(MACF1):c.899A>G (p.Glu300Gly)	MACF1 (E300G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2301458	NM_001394062.1(MACF1):c.901G>A (p.Gly301Arg)	MACF1 (G301R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2834627	NM_001394062.1(MACF1):c.924C>T (p.Asp308=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618102	NM_001394062.1(MACF1):c.933G>T (p.Trp311Cys)	MACF1 (W316C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2105238	NM_001394062.1(MACF1):c.936A>G (p.Gln312=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885952	NM_001394062.1(MACF1):c.963C>T (p.Leu321=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301408	NM_001394062.1(MACF1):c.979C>G (p.Gln327Glu)	MACF1 (Q332E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1287296	NM_001394062.1(MACF1):c.1035+27G>T	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2545999	NM_001394062.1(MACF1):c.1054A>C (p.Ile352Leu)	MACF1 (I352L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638690	NM_001394062.1(MACF1):c.1118A>G (p.Tyr373Cys)	MACF1 (Y373C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241407	NM_001394062.1(MACF1):c.1131+98A>G	MACF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2878547	NM_001394062.1(MACF1):c.1132-16dup	MACF1	Duplication (intron variant)	not provided	GLikely benign
Select item 2180221	NM_001394062.1(MACF1):c.1143A>G (p.Glu381=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2433590	NM_001394062.1(MACF1):c.1147G>C (p.Gly383Arg)	MACF1 (G383R +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 1710435	NM_001394062.1(MACF1):c.1148del (p.Gly383fs)	MACF1 (G383fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2079404	NM_001394062.1(MACF1):c.1152A>C (p.Arg384=)	MACF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183577	NM_001394062.1(MACF1):c.1157A>T (p.Lys386Ile)	MACF1 (K386I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1341866	NM_001394062.1(MACF1):c.1163C>T (p.Pro388Leu)	MACF1 (P388L +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation	GUncertain significance
Select item 2257065	NM_001394062.1(MACF1):c.1229G>T (p.Arg410Leu)	MACF1 (R415L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057975	NM_001394062.1(MACF1):c.1244G>A (p.Arg415Gln)	MACF1 (R415Q +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GLikely benign
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 1976150	NM_001394062.1(MACF1):c.1331T>C (p.Leu444Pro)	MACF1 (L444P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2798074	NM_001394062.1(MACF1):c.1357G>C (p.Ala453Pro)	MACF1 (A458P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2002509	NM_001394062.1(MACF1):c.1376G>C (p.Gly459Ala)	MACF1 (G464A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2543583	NM_001394062.1(MACF1):c.1382C>T (p.Pro461Leu)	MACF1 (P461L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2544400	NM_001394062.1(MACF1):c.1450G>A (p.Val484Met)	MACF1 (V484M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489217	NM_001394062.1(MACF1):c.1453G>C (p.Asp485His)	MACF1 (D490H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577729	NM_001394062.1(MACF1):c.1461G>C (p.Gln487His)	MACF1 (Q487H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2239462	NM_001394062.1(MACF1):c.1478A>C (p.Asn493Thr)	MACF1 (N493T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030667	NM_001394062.1(MACF1):c.1482C>T (p.Tyr494=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 734978	NM_001394062.1(MACF1):c.1501G>A (p.Ala501Thr)	MACF1 (A506T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign

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