LOC130000644[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 973978	NC_000008.11:g.(79919149_80002998)_(80003181_80030035)del	LOC110121048, LOC124174282 +5 more	Deletion	Combined oxidative phosphorylation deficiency 47	GPathogenic
Select item 3039901	NM_014018.2(MRPS28):c.213+9_213+10insCTACAGAAGGTGGAGCCCCTACAGAAGGTGGAGCCCCTACAGAAGGTGGAGCCCCTACAGAAGGTGGAGCCC	LOC130000644, MRPS28 +1 more	Microsatellite (intron variant)	MRPS28-related disorder	GLikely benign
Select item 3038476	NM_014018.2(MRPS28):c.205_213+9dup18	LOC130000644, MRPS28 +1 more	Microsatellite (intron variant)	MRPS28-related disorder	GLikely benign
Select item 2673154	NC_000008.11:g.80030027GGGCTCCACCTTCTGTAG[5]	LOC130000644, MRPS28 +1 more	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3069079	NM_014018.3(MRPS28):c.213+2T>G	LOC130000644, MRPS28 +1 more	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3296109	NM_014018.3(MRPS28):c.203C>A (p.Pro68His)	LOC130000644, MRPS28 +1 more (P68H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591736	NM_014018.3(MRPS28):c.196G>A (p.Val66Met)	LOC130000644, MRPS28 +1 more (V66M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300326	NM_014018.3(MRPS28):c.187C>G (p.Leu63Val)	LOC130000644, MRPS28 +1 more (L63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307936	NM_014018.3(MRPS28):c.184C>A (p.Leu62Ile)	LOC130000644, MRPS28 +1 more (L62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254081	NM_014018.3(MRPS28):c.184C>T (p.Leu62Phe)	LOC130000644, MRPS28 +1 more (L62F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296108	NM_014018.3(MRPS28):c.182A>G (p.Glu61Gly)	LOC130000644, MRPS28 +1 more (E61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209221	NM_014018.3(MRPS28):c.179C>G (p.Ser60Trp)	LOC130000644, MRPS28 +1 more (S60W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209216	NM_014018.3(MRPS28):c.178T>G (p.Ser60Ala)	LOC130000644, MRPS28 +1 more (S60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879717	NM_014018.3(MRPS28):c.172C>T (p.Arg58Trp)	LOC130000644, MRPS28 +1 more (R58W)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2658673	NM_014018.3(MRPS28):c.143G>C (p.Arg48Pro)	LOC130000644, MRPS28 +1 more (R48P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2556458	NM_014018.3(MRPS28):c.26C>T (p.Ala9Val)	LOC130000644, MRPS28 +1 more (A9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025995	NM_014018.3(MRPS28):c.21C>T (p.Thr7=)	LOC130000644, MRPS28 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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Items: 34