ClinVar for MedGen (Select 766956) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627100	NM_000987.5(RPL26):c.87del (p.Met30fs)	RPL26 (M30fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 11	GPathogenic
Select item 2627099	NM_000987.5(RPL26):c.-5-2A>G	RPL26	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia 11	GLikely pathogenic
Select item 2627098	NM_000987.5(RPL26):c.-6+3_-6+25del	RPL26	Deletion (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 11	GLikely pathogenic
Select item 2500079	NM_000987.5(RPL26):c.168+6T>G	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 11	GUncertain significance
Select item 1634626	NM_000987.5(RPL26):c.168+17G>A	RPL26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 11 +1 more	GBenign/Likely benign
Select item 1339822	NM_000987.5(RPL26):c.341del (p.Asp114fs)	RPL26 (D114fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 11	Gnot provided
Select item 1164657	NM_000987.5(RPL26):c.327A>G (p.Leu109=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 11 +1 more	GBenign/Likely benign
Select item 945300	NM_000987.5(RPL26):c.377G>A (p.Arg126His)	RPL26 (R126H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 11 +2 more	GUncertain significance
Select item 704376	NM_000987.5(RPL26):c.342C>T (p.Asp114=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 11 +1 more	GLikely benign
Select item 514617	NM_000987.5(RPL26):c.-5-16_-5-15del	RPL26	Deletion (intron variant)	Diamond-Blackfan anemia 11 +1 more	GBenign/Likely benign
Select item 463369	NM_000987.5(RPL26):c.96C>T (p.Ser32=)	RPL26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 11 +1 more	GBenign/Likely benign
Select item 39740	NM_000987.5(RPL26):c.120_121del (p.Lys41fs)	RPL26 (K41fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 11	GPathogenic