"MACF1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases +2 more	GLikely benign
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 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 2631319	NM_001394062.1(MACF1):c.677_679dup (p.Ala226_Leu227insPro)	MACF1	Duplication (inframe_insertion)	MACF1-related disorder	GUncertain significance
Select item 3043257	NM_001394062.1(MACF1):c.809-10TC[3]	MACF1	Microsatellite (intron variant)	MACF1-related disorder	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 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 3030667	NM_001394062.1(MACF1):c.1482C>T (p.Tyr494=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 1666150	NM_001394062.1(MACF1):c.1508+9C>T	MACF1	Single nucleotide variant (intron variant)	MACF1-related disorder +1 more	GBenign
Select item 3030308	NM_001394062.1(MACF1):c.1544G>A (p.Arg515His)	MACF1 (R515H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632508	NM_001394062.1(MACF1):c.1754A>C (p.Tyr585Ser)	MACF1 (Y585S +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2854072	NM_001394062.1(MACF1):c.1773A>C (p.Val591=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder +1 more	GLikely benign
Select item 2037411	NM_001394062.1(MACF1):c.1840C>T (p.Leu614=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3029887	NM_001394062.1(MACF1):c.1863T>C (p.His621=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2021061	NM_001394062.1(MACF1):c.2153C>A (p.Ser718Tyr)	MACF1 (S718Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3032148	NM_001394062.1(MACF1):c.2256G>A (p.Val752=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 777558	NM_001394062.1(MACF1):c.2429G>T (p.Cys810Phe)	MACF1 (C815F +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 2632264	NM_001394062.1(MACF1):c.2573C>G (p.Pro858Arg)	MACF1 (P858R +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2629139	NM_001394062.1(MACF1):c.2578C>T (p.His860Tyr)	MACF1 (H860Y +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3050352	NM_001394062.1(MACF1):c.2631C>T (p.Ile877=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 1260143	NM_001394062.1(MACF1):c.2634+7A>G	MACF1	Single nucleotide variant (intron variant)	Lissencephaly 9 with complex brainstem malformation +2 more	GBenign
Select item 2712840	NM_001394062.1(MACF1):c.2754C>G (p.Pro918=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 1536438	NM_001394062.1(MACF1):c.2851A>G (p.Ser951Gly)	MACF1 (S951G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2074626	NM_001394062.1(MACF1):c.3054A>G (p.Glu1018=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 2364333	NM_001394062.1(MACF1):c.3154C>T (p.Arg1052Trp)	MACF1 (R1052W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2050839	NM_001394062.1(MACF1):c.3344A>T (p.His1115Leu)	MACF1 (H1120L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2061010	NM_001394062.1(MACF1):c.3407A>G (p.Lys1136Arg)	MACF1 (K1141R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3034392	NM_001394062.1(MACF1):c.3429C>A (p.Leu1143=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3051294	NM_001394062.1(MACF1):c.3444G>A (p.Leu1148=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3048528	NM_001394062.1(MACF1):c.3583T>G (p.Leu1195Val)	MACF1 (L1195V +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GLikely benign
Select item 2050935	NM_001394062.1(MACF1):c.3716G>T (p.Arg1239Leu)	MACF1 (R1239L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2635074	NM_001394062.1(MACF1):c.3945+5G>C	MACF1	Single nucleotide variant (intron variant)	MACF1-related disorder	GUncertain significance
Select item 718959	NM_001394062.1(MACF1):c.4103G>A (p.Arg1368His)	MACF1 (R1373H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2726602	NM_001394062.1(MACF1):c.4520A>G (p.Asn1507Ser)	MACF1 (N1512S +1 more)	Single nucleotide variant (missense 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)	MACF1-related disorder +2 more	GBenign
Select item 3057571	NM_001394062.1(MACF1):c.11021A>T (p.Asp3674Val)	MACF1 (D1612V +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GLikely benign
Select item 2065454	NM_001394062.1(MACF1):c.11056C>G (p.Leu3686Val)	MACF1 (L3686V +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 3032350	NM_001394062.1(MACF1):c.11071T>C (p.Leu3691=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2357580	NM_001394062.1(MACF1):c.11080C>T (p.Leu3694Phe)	MACF1 (L1632F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2306258	NM_001394062.1(MACF1):c.11135C>T (p.Thr3712Ile)	MACF1 (T1650I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 3042409	NM_001394062.1(MACF1):c.11201G>A (p.Ser3734Asn)	MACF1 (S1672N +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GBenign
Select item 2042793	NM_001394062.1(MACF1):c.11260G>A (p.Val3754Ile)	MACF1 (V1692I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2064945	NM_001394062.1(MACF1):c.11307A>C (p.Pro3769=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 2049905	NM_001394062.1(MACF1):c.11576C>G (p.Ser3859Cys)	MACF1 (S1797C +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GUncertain significance
Select item 2629317	NM_001394062.1(MACF1):c.11587G>A (p.Ala3863Thr)	MACF1 (A1801T +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2049971	NM_001394062.1(MACF1):c.11743T>C (p.Ser3915Pro)	MACF1 (S1853P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2071224	NM_001394062.1(MACF1):c.11872T>C (p.Ser3958Pro)	MACF1 (S1896P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1701101	NM_001394062.1(MACF1):c.11994A>G (p.Gln3998=)	LOC126805711, MACF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2702117	NM_001394062.1(MACF1):c.12043G>A (p.Ala4015Thr)	LOC126805711, MACF1 (A1953T +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 2629825	NM_001394062.1(MACF1):c.12098A>G (p.Gln4033Arg)	MACF1, LOC126805711 (Q1971R +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2628530	NM_001394062.1(MACF1):c.12340G>A (p.Glu4114Lys)	MACF1 (E2052K +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2064191	NM_001394062.1(MACF1):c.12480A>G (p.Gln4160=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 715891	NM_001394062.1(MACF1):c.12621G>A (p.Lys4207=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054130	NM_001394062.1(MACF1):c.12688C>G (p.Gln4230Glu)	MACF1 (Q2168E +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 734979	NM_001394062.1(MACF1):c.12778A>T (p.Asn4260Tyr)	MACF1 (N2198Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1232730	NM_001394062.1(MACF1):c.13054A>G (p.Met4352Val)	MACF1 (M2290V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1987032	NM_001394062.1(MACF1):c.13083T>C (p.Ile4361=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2379706	NM_001394062.1(MACF1):c.13213G>C (p.Gly4405Arg)	MACF1 (G2343R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2083040	NM_001394062.1(MACF1):c.13351C>T (p.Arg4451Cys)	MACF1 (R2389C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3054008	NM_001394062.1(MACF1):c.13508A>G (p.Glu4503Gly)	MACF1 (E2441G +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3044666	NM_001394062.1(MACF1):c.13602C>T (p.Pro4534=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 3036690	NM_001394062.1(MACF1):c.13614A>G (p.Glu4538=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2637345	NM_001394062.1(MACF1):c.13649A>C (p.Asn4550Thr)	MACF1 (N2488T +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2062211	NM_001394062.1(MACF1):c.13675G>T (p.Val4559Phe)	MACF1 (V4559F +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +2 more	GBenign/Likely benign
Select item 2630045	NM_001394062.1(MACF1):c.13952G>A (p.Ser4651Asn)	MACF1 (S2589N +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2067606	NM_001394062.1(MACF1):c.14369C>T (p.Ala4790Val)	MACF1 (A2728V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3042422	NM_001394062.1(MACF1):c.14449_14451dup (p.Ala4817_Lys4818insAla)	MACF1	Duplication (inframe insertion)	MACF1-related disorder	GBenign
Select item 2039439	NM_001394062.1(MACF1):c.14471C>T (p.Ala4824Val)	MACF1 (A2762V +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +3 more	GLikely benign
Select item 1701102	NM_001394062.1(MACF1):c.14476T>C (p.Leu4826=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2456446	NM_001394062.1(MACF1):c.14483G>A (p.Arg4828Gln)	MACF1 (R2766Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 773141	NM_001394062.1(MACF1):c.14649T>C (p.His4883=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3041786	NM_001394062.1(MACF1):c.14733T>C (p.His4911=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2892760	NM_001394062.1(MACF1):c.14817G>A (p.Glu4939=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036293	NM_001394062.1(MACF1):c.14827C>T (p.Leu4943=)	LOC114803468, MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2636930	NM_001394062.1(MACF1):c.14997G>C (p.Gln4999His)	LOC114803468, MACF1 (Q2937H +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 775052	NM_001394062.1(MACF1):c.15126A>C (p.Gln5042His)	MACF1 (Q2980H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 2052270	NM_001394062.1(MACF1):c.15127G>T (p.Ala5043Ser)	MACF1 (A5043S +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 2179970	NM_001394062.1(MACF1):c.15129C>T (p.Ala5043=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1583645	NM_001394062.1(MACF1):c.15173T>A (p.Val5058Glu)	MACF1 (V2996E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1299859	NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val)	MACF1 (L3014V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2637404	NM_001394062.1(MACF1):c.15416A>G (p.Asp5139Gly)	MACF1 (D3077G +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2630535	NM_001394062.1(MACF1):c.15614T>G (p.Leu5205Arg)	MACF1 (L3143R +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 3033591	NM_001394062.1(MACF1):c.15979-10C>A	MACF1	Single nucleotide variant (intron variant)	MACF1-related disorder	GLikely benign
Select item 2633306	NM_001394062.1(MACF1):c.16085T>C (p.Ile5362Thr)	MACF1 (I1494T +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2045680	NM_001394062.1(MACF1):c.16367C>T (p.Thr5456Ile)	MACF1 (T1588I +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 2060912	NM_001394062.1(MACF1):c.16413T>G (p.Leu5471=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2041872	NM_001394062.1(MACF1):c.16471C>T (p.His5491Tyr)	MACF1 (H5491Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 726620	NM_001394062.1(MACF1):c.16482G>A (p.Leu5494=)	MACF1	Single nucleotide variant (synonymous variant)	Lissencephaly 9 with complex brainstem malformation +2 more	GBenign/Likely benign
Select item 2044814	NM_001394062.1(MACF1):c.17414G>A (p.Arg5805His)	MACF1 (R1828H +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +1 more	GBenign
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 2068544	NM_001394062.1(MACF1):c.18336T>C (p.Tyr6112=)	MACF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632269	NM_001394062.1(MACF1):c.18340A>G (p.Met6114Val)	MACF1 (M2140V +2 more)	Single nucleotide variant (missense variant)	MACF1-related disorder	GUncertain significance
Select item 2262379	NM_001394062.1(MACF1):c.18421A>G (p.Ile6141Val)	MACF1 (I2167V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1601503	NM_001394062.1(MACF1):c.18905A>G (p.Lys6302Arg)	MACF1 (K4243R +1 more)	Single nucleotide variant (missense variant)	MACF1-related disorder +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 +2 more	GBenign
Select item 2064194	NM_001394062.1(MACF1):c.19344A>G (p.Glu6448=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder +1 more	GBenign/Likely benign
Select item 3049855	NM_001394062.1(MACF1):c.19446G>A (p.Gln6482=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign
Select item 2715339	NM_001394062.1(MACF1):c.19575T>G (p.His6525Gln)	MACF1 (H6525Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3036140	NM_001394062.1(MACF1):c.19659A>G (p.Gln6553=)	MACF1	Single nucleotide variant (synonymous variant)	MACF1-related disorder	GLikely benign

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