Related gene-specific medical variations for Gene (Select 51023) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2391445	NM_016067.4(MRPS18C):c.250G>A (p.Val84Ile)	ABRAXAS1, MRPS18C (V84I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2338297	NM_016067.4(MRPS18C):c.416G>C (p.Arg139Thr)	ABRAXAS1, MRPS18C (R111T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321699	NM_016067.4(MRPS18C):c.350T>C (p.Met117Thr)	ABRAXAS1, MRPS18C (M117T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307521	NM_016067.4(MRPS18C):c.10G>T (p.Val4Leu)	LOC112997542, MRPS18C (V4L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2305937	NM_016067.4(MRPS18C):c.417A>T (p.Arg139Ser)	ABRAXAS1, MRPS18C (R139S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250704	NM_016067.4(MRPS18C):c.376G>A (p.Asp126Asn)	ABRAXAS1, MRPS18C (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1272768	NM_139076.3(ABRAXAS1):c.*249del	ABRAXAS1, MRPS18C	Deletion (3 prime UTR variant)	not provided	GBenign

ClinVar