Related gene-specific medical variations for Gene (Select 130000644) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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	NC_000008.11:g.80030027GGGCTCCACCTTCTGTAG[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 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 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