MARCHF3[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 147781	GRCh38/hg38 5q23.2(chr5:126657759-126923623)x3	LMNB1, LMNB1-DT +10 more	Copy number gain	See cases	GPathogenic
Select item 3123476	NM_178450.5(MARCHF3):c.725A>G (p.His242Arg)	MARCHF3 (H242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461394	NM_178450.5(MARCHF3):c.670C>T (p.Leu224Phe)	MARCHF3 (L224F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123474	NM_178450.5(MARCHF3):c.647G>A (p.Arg216Gln)	MARCHF3 (R216Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123473	NM_178450.5(MARCHF3):c.646C>T (p.Arg216Trp)	MARCHF3 (R216W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469150	NM_178450.5(MARCHF3):c.644G>A (p.Arg215His)	MARCHF3 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123472	NM_178450.5(MARCHF3):c.635A>G (p.Asn212Ser)	MARCHF3 (N212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123471	NM_178450.5(MARCHF3):c.632A>T (p.Tyr211Phe)	MARCHF3 (Y211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478168	NM_178450.5(MARCHF3):c.628T>G (p.Leu210Val)	MARCHF3 (L210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123469	NM_178450.5(MARCHF3):c.571G>A (p.Ala191Thr)	MARCHF3 (A191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123468	NM_178450.5(MARCHF3):c.536G>A (p.Arg179Gln)	MARCHF3 (R179Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594508	NM_178450.5(MARCHF3):c.508G>A (p.Ala170Thr)	MARCHF3 (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456780	NM_178450.5(MARCHF3):c.428G>A (p.Arg143Gln)	MARCHF3 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123467	NM_178450.5(MARCHF3):c.370C>T (p.Arg124Cys)	MARCHF3 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293290	NM_178450.5(MARCHF3):c.275C>A (p.Thr92Asn)	MARCHF3 (T92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123465	NM_178450.5(MARCHF3):c.197A>G (p.Asn66Ser)	MARCHF3 (N66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525749	NM_178450.5(MARCHF3):c.85G>T (p.Asp29Tyr)	MARCHF3 (D29Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456181	NM_178450.5(MARCHF3):c.77C>T (p.Thr26Met)	MARCHF3 (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293291	NM_178450.5(MARCHF3):c.76A>G (p.Thr26Ala)	MARCHF3 (T26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123475	NM_178450.5(MARCHF3):c.67G>A (p.Val23Met)	MARCHF3 (V23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123466	NM_178450.5(MARCHF3):c.22C>A (p.His8Asn)	MARCHF3 (H8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062826	GRCh37/hg19 5q23.2-23.3(chr5:125506060-128162785)x3	ALDH7A1, C5orf63 +10 more	Copy number gain	not specified	GPathogenic
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1706508	GRCh37/hg19 5q23.2-23.3(chr5:124997035-128900524)x1	ADAMTS19, FBN2 +13 more	Copy number loss	See cases	GPathogenic
Select item 1695146	GRCh37/hg19 5q23.2(chr5:126113201-126408992)x1	C5orf63, LMNB1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1460260	NC_000005.9:g.(?_126113201)_(126253863_?)dup	LMNB1, MARCHF3	Duplication	not provided	GPathogenic
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 686751	GRCh37/hg19 5q23.2(chr5:126184215-126720415)x3	C5orf63, MARCHF3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442450	GRCh37/hg19 5q23.2(chr5:126002101-126351612)x3	LMNB1, MARCHF3	Copy number gain	See cases	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442081	GRCh37/hg19 5q23.2(chr5:126002101-126341594)x3	LMNB1, MARCHF3	Copy number gain	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 46