"Genome-Nilou Lab"[submitter] AND "MACF1"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1314745	NM_012090.5(MACF1):c.35G>A (p.Arg12Gln)	MACF1 (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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	NC_000001.11:g.39084311G>A	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1264063	NM_001394062.1(MACF1):c.756G>A (p.Gln252=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 982710	NM_001394062.1(MACF1):c.1799G>A (p.Arg600Gln)	MACF1 (R605Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 779854	NM_001394062.1(MACF1):c.1916G>T (p.Gly639Val)	MACF1 (G644V +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign/Likely benign
Select item 1607147	NM_001394062.1(MACF1):c.2307G>C (p.Leu769=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign/Likely benign
Select item 1260143	NM_001394062.1(MACF1):c.2634+7A>G	MACF1	Single nucleotide variant (intron variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1619756	NM_001394062.1(MACF1):c.2793C>T (p.Val931=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2050839	NM_001394062.1(MACF1):c.3344A>T (p.His1115Leu)	MACF1 (H1120L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 983011	NM_001394062.1(MACF1):c.3450G>A (p.Lys1150=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1246325	NM_001394062.1(MACF1):c.3696G>A (p.Glu1232=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1635650	NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1253548	NM_001394062.1(MACF1):c.10816-7T>A	MACF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1281621	NM_001394062.1(MACF1):c.11055G>A (p.Lys3685=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 2169039	NM_001394062.1(MACF1):c.11066G>A (p.Arg3689His)	MACF1 (R1627H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2042793	NM_001394062.1(MACF1):c.11260G>A (p.Val3754Ile)	MACF1 (V1692I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2049971	NM_001394062.1(MACF1):c.11743T>C (p.Ser3915Pro)	MACF1 (S1853P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1701101	NM_001394062.1(MACF1):c.11994A>G (p.Gln3998=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1878857	NM_001394062.1(MACF1):c.12056A>G (p.Lys4019Arg)	LOC126805711, MACF1 (K1957R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 806109	NM_001394062.1(MACF1):c.12857C>T (p.Ala4286Val)	MACF1 (A2224V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1232730	NM_001394062.1(MACF1):c.13054A>G (p.Met4352Val)	MACF1 (M2290V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1250500	NM_001394062.1(MACF1):c.13119T>C (p.Ser4373=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1675358	NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser)	MACF1 (N2320S +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign/Likely benign
Select item 1570216	NM_001394062.1(MACF1):c.13641A>G (p.Glu4547=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1287868	NM_001394062.1(MACF1):c.13754G>A (p.Arg4585Gln)	MACF1 (R2523Q +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 725331	NM_001394062.1(MACF1):c.13779G>C (p.Leu4593=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GLikely benign
Select item 2067606	NM_001394062.1(MACF1):c.14369C>T (p.Ala4790Val)	MACF1 (A2728V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2039439	NM_001394062.1(MACF1):c.14471C>T (p.Ala4824Val)	MACF1 (A2762V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1701102	NM_001394062.1(MACF1):c.14476T>C (p.Leu4826=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 773141	NM_001394062.1(MACF1):c.14649T>C (p.His4883=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 775052	NM_001394062.1(MACF1):c.15126A>C (p.Gln5042His)	MACF1 (Q2980H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +2 more	GBenign/Likely benign
Select item 2169159	NM_001394062.1(MACF1):c.15283G>T (p.Val5095Phe)	MACF1 (V5095F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 1341853	NM_001394062.1(MACF1):c.15561AGA[2] (p.Glu5190del)	MACF1 (E3128del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 726620	NM_001394062.1(MACF1):c.16482G>A (p.Leu5494=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign/Likely benign
Select item 2144838	NM_001394062.1(MACF1):c.16603C>G (p.Gln5535Glu)	MACF1 (Q3473E +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 9 with complex brainstem malformation +2 more	GBenign/Likely benign
Select item 2201235	NM_001394062.1(MACF1):c.16925G>A (p.Gly5642Asp)	MACF1 (G3580D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1566172	NM_001394062.1(MACF1):c.17566-6A>T	MACF1	Single nucleotide variant (intron variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1501728	NM_001394062.1(MACF1):c.18004G>A (p.Glu6002Lys)	MACF1 (E3943K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2139056	NM_001394062.1(MACF1):c.18447+3A>G	MACF1	Single nucleotide variant (intron variant)	Lissencephaly 9 with complex brainstem malformation +2 more	GBenign/Likely benign
Select item 1258343	NM_001394062.1(MACF1):c.18448-16A>G	MACF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1282371	NM_001394062.1(MACF1):c.19149A>C (p.Thr6383=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1266499	NM_001394062.1(MACF1):c.19225G>A (p.Ala6409Thr)	MACF1 (A4350T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1178452	NM_001394062.1(MACF1):c.19762-13A>G	MACF1	Single nucleotide variant (intron variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1277352	NM_001394062.1(MACF1):c.20186G>C (p.Ser6729Thr)	MACF1 (S4670T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GBenign
Select item 1259495	NM_001394062.1(MACF1):c.20479C>A (p.Arg6827=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1313773	NM_001394062.1(MACF1):c.21013C>T (p.Arg7005Trp)	MACF1 (R4946W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073900	NM_001394062.1(MACF1):c.21032C>T (p.Pro7011Leu)	MACF1 (P4952L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 773142	NM_001394062.1(MACF1):c.21197-6T>C	MACF1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1228786	NM_001394062.1(MACF1):c.22386C>T (p.Ser7462=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 51