MGARP[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 145483	GRCh38/hg38 4q28.3-31.1(chr4:137507831-139300924)x1	ELF2, LINC00498 +37 more	Copy number loss	See cases	GUncertain significance
Select item 60200	GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1	ELF2, LINC00498 +48 more	Copy number loss	See cases	GUncertain significance
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 145883	GRCh38/hg38 4q31.1(chr4:139222611-139390389)x3	LOC126807166, LOC129993105 +5 more	Copy number gain	See cases	GLikely benign
Select item 3294594	NM_032623.4(MGARP):c.710C>T (p.Ser237Leu)	LOC126807166, MGARP (S237L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125894	NM_032623.4(MGARP):c.566C>T (p.Thr189Ile)	LOC126807166, MGARP (T189I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259295	NM_032623.4(MGARP):c.532G>A (p.Glu178Lys)	LOC126807166, MGARP (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392222	NM_032623.4(MGARP):c.529C>T (p.Pro177Ser)	LOC126807166, MGARP (P177S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2611367	NM_032623.4(MGARP):c.527C>T (p.Thr176Ile)	LOC126807166, MGARP (T176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325171	NM_032623.4(MGARP):c.400A>G (p.Lys134Glu)	LOC126807166, MGARP (K134E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3294593	NM_032623.4(MGARP):c.361G>A (p.Asp121Asn)	LOC126807166, MGARP (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317638	NM_032623.4(MGARP):c.313G>T (p.Ala105Ser)	LOC126807166, MGARP (A105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125893	NM_032623.4(MGARP):c.289G>A (p.Glu97Lys)	LOC126807166, MGARP (E97K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463837	NM_032623.4(MGARP):c.268C>G (p.His90Asp)	MGARP (H90D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277461	NM_032623.4(MGARP):c.210C>A (p.Asp70Glu)	MGARP (D70E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310036	NM_032623.4(MGARP):c.173C>T (p.Ala58Val)	MGARP (A58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377925	NM_032623.4(MGARP):c.160G>A (p.Val54Ile)	MGARP (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125895	NM_032623.4(MGARP):c.91C>T (p.Arg31Cys)	MGARP (R31C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591196	NM_032623.4(MGARP):c.56C>T (p.Pro19Leu)	LOC129993105, MGARP (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338450	GRCh37/hg19 4q31.1(chr4:140187697-140394334)x1	MGARP, NAA15 +2 more	Copy number loss	Intellectual disability, autosomal dominant 50	GLikely pathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062752	GRCh37/hg19 4q31.1(chr4:140121963-140223855)x1	MGARP, NAA15 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1340411	GRCh37/hg19 4q28.3-31.21(chr4:136529470-141564812)x1	CLGN, ELF2 +15 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814611	GRCh37/hg19 4q31.1(chr4:140024115-140457430)x3	NDUFC1, NAA15 +4 more	Copy number gain	not provided	GLikely benign
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 814609	GRCh37/hg19 4q28.3-31.21(chr4:137901978-141527647)x1	MGAT4D, SETD7 +14 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 686985	GRCh37/hg19 4q28.3-31.21(chr4:134054911-142601496)x1	CLGN, ELF2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 51