"GeneDx"[submitter] AND "RPL26"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 1320559	NC_000017.11:g.8377343TCT[2]	RPL26	Microsatellite	not provided	GLikely benign
Select item 1277419	NM_000987.5(RPL26):c.310-49T>G	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271802	NM_000987.5(RPL26):c.169-125G>C	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257185	NM_000987.5(RPL26):c.169-232C>G	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317724	NM_000987.5(RPL26):c.168+261A>G	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292754	NM_000987.5(RPL26):c.168+210_168+211del	RPL26	Deletion (intron variant)	not provided	GBenign
Select item 1246531	NM_000987.5(RPL26):c.168+211del	RPL26	Deletion (intron variant)	not provided	GBenign
Select item 1327308	NM_000987.5(RPL26):c.168+188A>T	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285769	NM_000987.5(RPL26):c.168+63A>G	RPL26	Single nucleotide variant (intron variant)	not provided	GBenign
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 1706867	NM_000987.5(RPL26):c.-5-164C>T	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706894	NM_000987.5(RPL26):c.-5-204A>G	RPL26	Single nucleotide variant (intron variant)	not provided	GLikely benign