"Ambry Genetics"[submitter] AND "MRPL23"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2558175	NM_021134.4(MRPL23):c.31C>T (p.Arg11Trp)	MRPL23 (R11W)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2262216	NM_021134.4(MRPL23):c.70T>G (p.Phe24Val)	MRPL23 (F24V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2372789	NM_021134.4(MRPL23):c.109G>A (p.Glu37Lys)	MRPL23 (E37K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2213238	NM_021134.4(MRPL23):c.196G>A (p.Ala66Thr)	MRPL23 (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387107	NM_021134.4(MRPL23):c.206G>A (p.Arg69Gln)	MRPL23 (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321398	NM_021134.4(MRPL23):c.211C>T (p.Arg71Trp)	MRPL23 (R26W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275568	NM_021134.4(MRPL23):c.215T>A (p.Val72Glu)	MRPL23 (V27E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552158	NM_021134.4(MRPL23):c.269C>T (p.Pro90Leu)	MRPL23 (P90L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366013	NM_021134.4(MRPL23):c.425C>T (p.Pro142Leu)	MRPL23 (P97L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2604325	NM_021134.4(MRPL23):c.428G>A (p.Arg143Gln)	MRPL23 (R143Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2365011	NM_021134.4(MRPL23):c.430C>T (p.Arg144Trp)	MRPL23 (R144W +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2341340	NM_021134.4(MRPL23):c.431G>A (p.Arg144Gln)	MRPL23 (R99Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance