"GeneDx"[submitter] AND "RMND5B"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 151624	GRCh38/hg38 5q35.3(chr5:178021540-178160440)x3	LOC116158535, LOC121740634 +12 more	Copy number gain	See cases	GLikely benign
Select item 1699894	NM_017838.4(NHP2):c.*226G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 260940	NM_017838.4(NHP2):c.*11T>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 416618	NM_017838.4(NHP2):c.352G>A (p.Ala118Thr)	NHP2, RMND5B (A118T)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 241214	NM_017838.4(NHP2):c.351C>T (p.Ala117=)	NHP2, RMND5B (P82L +1 more)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita, autosomal recessive 1 +3 more	GBenign/Likely benign
Select item 1219884	NM_017838.4(NHP2):c.337-29del	RMND5B, NHP2	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1201611	NM_017838.4(NHP2):c.337-133G>A	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1260088	NM_017838.4(NHP2):c.337-299A>G	NHP2, RMND5B	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign