"Ambry Genetics"[submitter] AND "MRPL14"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2264927	NM_032111.4(MRPL14):c.426G>C (p.Gln142His)	MRPL14, POLR1C (Q142H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354125	NM_032111.4(MRPL14):c.422C>T (p.Ala141Val)	MRPL14, POLR1C (A107V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246137	NM_032111.4(MRPL14):c.418A>G (p.Ile140Val)	MRPL14, POLR1C (I106V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409186	NM_032111.4(MRPL14):c.397G>A (p.Glu133Lys)	MRPL14, POLR1C (E186K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400954	NM_032111.4(MRPL14):c.389G>A (p.Arg130Gln)	MRPL14, POLR1C (R96Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232753	NM_032111.4(MRPL14):c.386A>T (p.Lys129Met)	MRPL14, POLR1C (K140M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293320	NM_032111.4(MRPL14):c.323T>C (p.Ile108Thr)	MRPL14, POLR1C (I161T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471027	NM_032111.4(MRPL14):c.109C>T (p.Arg37Trp)	MRPL14, POLR1C (R37W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477593	NM_032111.4(MRPL14):c.80G>A (p.Gly27Glu)	MRPL14, POLR1C (G38E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance