Related gene-specific medical variations for Gene (Select 63931) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363127	NM_022100.3(MRPS14):c.205-21dup	MRPS14	Duplication (intron variant)	Combined oxidative phosphorylation deficiency 38	GUncertain significance
Select item 3296071	NM_022100.3(MRPS14):c.8C>T (p.Ala3Val)	LOC129931958, MRPS14 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208645	NM_022100.3(MRPS14):c.43C>G (p.Gln15Glu)	LOC129931958, MRPS14 (Q15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208619	NM_022100.3(MRPS14):c.14T>C (p.Met5Thr)	LOC129931958, MRPS14 (M5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049231	NM_022100.3(MRPS14):c.39C>T (p.Phe13=)	LOC129931958, MRPS14	Single nucleotide variant (synonymous variant +1 more)	MRPS14-related disorder	GLikely benign
Select item 2790358	NM_022100.3(MRPS14):c.25C>T (p.Leu9=)	LOC129931958, MRPS14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2300325	NM_022100.3(MRPS14):c.20G>T (p.Gly7Val)	LOC129931958, MRPS14 (G7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2191900	NM_022100.3(MRPS14):c.13A>G (p.Met5Val)	LOC129931958, MRPS14 (M5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2017535	NM_022100.3(MRPS14):c.45+4A>G	LOC129931958, MRPS14	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance