Related gene-specific medical variations for Gene (Select 6185) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2993305	NM_002951.5(RPN2):c.13+12C>G	MROH8, RPN2	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2771311	NM_002951.5(RPN2):c.12G>C (p.Pro4=)	MROH8, RPN2 (R48G)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 2159331	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGCGGCCGGCACTCTT	MROH8, RPN2	Insertion (frameshift variant +2 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2120293	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCGGCGGCCGGCACTCTT	MROH8, RPN2 (G36fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 2041031	NM_002951.5(RPN2):c.13+21_13+22insATAGACGGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2 (L38fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1986160	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGACACTCTT	MROH8, RPN2 (A33fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1909002	NM_002951.5(RPN2):c.13+11G>T	MROH8, RPN2 (Q44K)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1148510	NM_002951.5(RPN2):c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2 (I40fs)	Insertion (frameshift variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 1115482	NM_002951.5(RPN2):c.13+21_13+22insATAGACAGGGCCCCGCGGCCGGCACTCTT	MROH8, RPN2	Duplication (frameshift variant +2 more)	Congenital disorder of glycosylation	GLikely benign
Select item 403105	NM_002951.5(RPN2):c.3_13+18dup	RPN2, MROH8 (H51fs)	Duplication (frameshift variant +2 more)	not specified	GBenign