"GeneDx"[submitter] AND "RPL27"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1270607	NM_000988.5(RPL27):c.-25del	LOC126862570, RPL27	Deletion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1240832	NM_000988.5(RPL27):c.-20G>C	LOC126862570, RPL27	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1182827	NM_000988.5(RPL27):c.-3+33C>T	LOC126862570, RPL27	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1251530	NM_000988.5(RPL27):c.81+101G>A	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292753	NM_000988.5(RPL27):c.81+135T>C	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263870	NM_000988.5(RPL27):c.82-207G>A	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292743	NM_000988.5(RPL27):c.252-226C>G	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221528	NM_000988.5(RPL27):c.252-200G>C	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290197	NM_000988.5(RPL27):c.252-90C>T	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243778	NM_000988.5(RPL27):c.362+17A>C	RPL27	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 16 +1 more	GBenign
Select item 1272232	NC_000017.11:g.43003227C>T	RPL27	Single nucleotide variant	not provided	GBenign