Related gene-specific medical variations for Gene (Select 65080) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2800989	NM_022915.5(MRPL44):c.6G>A (p.Ala2=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592751	NM_022915.5(MRPL44):c.19A>G (p.Arg7Gly)	LOC129935704, MRPL44 (R7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422037	NM_022915.5(MRPL44):c.30G>C (p.Gln10His)	LOC129935704, MRPL44 (Q10H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166475	NM_022915.5(MRPL44):c.62C>T (p.Ala21Val)	LOC129935704, MRPL44 (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079032	NM_022915.5(MRPL44):c.53C>A (p.Ala18Asp)	LOC129935704, MRPL44 (A18D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060213	NM_022915.5(MRPL44):c.51G>A (p.Leu17=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018739	NM_022915.5(MRPL44):c.27G>T (p.Leu9=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956033	NM_022915.5(MRPL44):c.6G>T (p.Ala2=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400248	NM_022915.5(MRPL44):c.47T>G (p.Leu16Arg)	LOC129935704, MRPL44 (L16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343008	NM_022915.5(MRPL44):c.34G>A (p.Gly12Arg)	LOC129935704, MRPL44 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1246226	NC_000002.12:g.223957389G>T	LOC129935704, MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1223261	NC_000002.12:g.223957267T>G	LOC129935703, MRPL44	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1196100	NM_022915.5(MRPL44):c.40C>T (p.Arg14Cys)	LOC129935704, MRPL44 (R14C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 381827	NM_022915.5(MRPL44):c.30G>A (p.Gln10=)	LOC129935704, MRPL44	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214666	NM_022915.5(MRPL44):c.38A>G (p.His13Arg)	LOC129935704, MRPL44 (H13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance