ClinVar for MedGen (Select 816218) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502338	NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)	NKIRAS1, RPL15 (K153T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 2502337	NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)	NKIRAS1, RPL15 (L10P)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 2502336	NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)	NKIRAS1, RPL15 (Q29*)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 2502335	NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)	NKIRAS1, RPL15 (Y81*)	Duplication (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1709989	NM_002948.5(RPL15):c.130del (p.Arg44fs)	NKIRAS1, RPL15 (R44fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 1391914	NM_002948.5(RPL15):c.458A>G (p.Lys153Arg)	NKIRAS1, RPL15 (K153R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1030605	NM_002948.5(RPL15):c.536A>G (p.Lys179Arg)	NKIRAS1, RPL15 (K179R)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 12 +1 more	GUncertain significance
Select item 870411	NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)	NKIRAS1, RPL15 (R105L)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 12	GLikely pathogenic
Select item 626158	NM_002948.5(RPL15):c.172+5G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 88980	NG_033850.2(RPL15):g.7123_9515del	NKIRAS1, RPL15	Deletion (intron variant +2 more)	Diamond-Blackfan anemia 12	GPathogenic