MAGEF1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 2541485	NM_022149.5(MAGEF1):c.840G>C (p.Glu280Asp)	MAGEF1 (E280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400967	NM_022149.5(MAGEF1):c.754A>T (p.Met252Leu)	MAGEF1 (M252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398538	NM_022149.5(MAGEF1):c.724G>A (p.Gly242Ser)	MAGEF1 (G242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231670	NM_022149.5(MAGEF1):c.719C>T (p.Ser240Phe)	MAGEF1 (S240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544957	NM_022149.5(MAGEF1):c.649G>T (p.Asp217Tyr)	MAGEF1 (D217Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122213	NM_022149.5(MAGEF1):c.584G>T (p.Arg195Leu)	MAGEF1 (R195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323676	NM_022149.5(MAGEF1):c.564G>T (p.Gln188His)	MAGEF1 (Q188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292679	NM_022149.5(MAGEF1):c.523G>A (p.Gly175Ser)	LOC129938064, MAGEF1 (G175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122212	NM_022149.5(MAGEF1):c.496A>G (p.Arg166Gly)	MAGEF1 (R166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475712	NM_022149.5(MAGEF1):c.491G>C (p.Gly164Ala)	MAGEF1 (G164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292678	NM_022149.5(MAGEF1):c.490G>A (p.Gly164Ser)	MAGEF1 (G164S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403067	NM_022149.5(MAGEF1):c.456GGA[9] (p.Glu157_Glu158dup)	MAGEF1	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 3292676	NM_022149.5(MAGEF1):c.421C>T (p.His141Tyr)	MAGEF1 (H141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348318	NM_022149.5(MAGEF1):c.394G>C (p.Glu132Gln)	MAGEF1 (E132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122211	NM_022149.5(MAGEF1):c.328T>G (p.Leu110Val)	MAGEF1 (L110V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219739	NM_022149.5(MAGEF1):c.215C>T (p.Ala72Val)	MAGEF1 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292677	NM_022149.5(MAGEF1):c.209G>C (p.Arg70Pro)	MAGEF1 (R70P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568092	NM_022149.5(MAGEF1):c.188C>T (p.Ala63Val)	MAGEF1 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122210	NM_022149.5(MAGEF1):c.102G>C (p.Gln34His)	MAGEF1 (Q34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774609	NM_022149.5(MAGEF1):c.52dup (p.Glu18fs)	MAGEF1 (E18fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 61