Related gene-specific medical variations for Gene (Select 28957) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3209247	NM_014018.3(MRPS28):c.388G>C (p.Asp130His)	MRPS28, TPD52-MRPS28 (D130H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209241	NM_014018.3(MRPS28):c.310A>G (p.Ile104Val)	MRPS28, TPD52-MRPS28 (I104V +1 more)	Single nucleotide variant (missense variant)	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 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 3050001	NM_014018.3(MRPS28):c.229G>A (p.Val77Met)	MRPS28, TPD52-MRPS28 (V151M +1 more)	Single nucleotide variant (missense variant)	MRPS28-related disorder	GLikely benign
Select item 3042346	NM_014018.3(MRPS28):c.214-8A>G	MRPS28, TPD52-MRPS28	Single nucleotide variant (intron variant)	MRPS28-related disorder	GLikely benign
Select item 3039901	NM_001387778.1(TPD52-MRPS28):c.435+12558CTACAGAAGGTGGAGCCC[6]	LOC130000644, MRPS28 +1 more	Microsatellite (intron variant)	MRPS28-related disorder	GLikely benign
Select item 3038620	NM_014018.3(MRPS28):c.307C>T (p.Arg103Trp)	MRPS28, TPD52-MRPS28 (R103W +1 more)	Single nucleotide variant (missense variant)	MRPS28-related disorder	GBenign
Select item 3038476	NM_001387778.1(TPD52-MRPS28):c.435+12558CTACAGAAGGTGGAGCCC[3]	LOC130000644, MRPS28 +1 more	Microsatellite (intron variant)	MRPS28-related disorder	GLikely benign
Select item 3037884	NM_014018.3(MRPS28):c.265C>T (p.Leu89Phe)	MRPS28, TPD52-MRPS28 (L163F +1 more)	Single nucleotide variant (missense variant)	MRPS28-related disorder	GBenign
Select item 3036960	NM_014018.3(MRPS28):c.477T>C (p.Asp159=)	MRPS28, TPD52-MRPS28	Single nucleotide variant (synonymous variant)	MRPS28-related disorder	GLikely benign
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
Select item 2673154	NM_001387778.1(TPD52-MRPS28):c.435+12558CTACAGAAGGTGGAGCCC[5]	LOC130000644, MRPS28 +1 more	Microsatellite (intron variant)	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 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 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 2495994	NM_014018.3(MRPS28):c.512G>A (p.Gly171Glu)	MRPS28, TPD52-MRPS28 (G171E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397486	NM_014018.3(MRPS28):c.223A>G (p.Lys75Glu)	MRPS28, TPD52-MRPS28 (K149E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380053	NM_014018.3(MRPS28):c.428G>A (p.Arg143Gln)	MRPS28, TPD52-MRPS28 (R217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310182	NM_014018.3(MRPS28):c.541A>G (p.Lys181Glu)	MRPS28, TPD52-MRPS28 (K181E +1 more)	Single nucleotide variant (missense variant)	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 2302453	NM_014018.3(MRPS28):c.485T>A (p.Val162Glu)	MRPS28, TPD52-MRPS28 (V162E +1 more)	Single nucleotide variant (missense variant)	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 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 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 973978	NC_000008.11:g.(79919149_80002998)_(80003181_80030035)del	LOC110121048, LOC124174282 +5 more	Deletion	Combined oxidative phosphorylation deficiency 47	GPathogenic
Select item 973977	NM_014018.3(MRPS28):c.356A>G (p.Lys119Arg)	MRPS28, TPD52-MRPS28 (K119R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 47	GPathogenic

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Links from Gene

Items: 28