ClinVar for MedGen (Select 393906) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579211	GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1	AP3B2, CPEB1 +19 more	Copy number loss	Diamond-Blackfan anemia 4	GPathogenic
Select item 2428499	NM_001021.6(RPS17):c.156-1G>A	RPS17	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia 4	GLikely pathogenic
Select item 1223515	NM_001021.6(RPS17):c.312A>G (p.Glu104=)	RPS17	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 506484	NM_001021.6(RPS17):c.328-7G>A	RPS17	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 4 +1 more	GLikely benign
Select item 100625	NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)	RPS17 (Y53*)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 4	GPathogenic
Select item 88976	NG_009890.2:g.(5565_6559)_(8796_9460)del	RPS17	Deletion	Diamond-Blackfan anemia 4	GPathogenic
Select item 13000	NM_001021.6(RPS17):c.201_202del (p.Gly68fs)	RPS17 (G68fs)	Microsatellite (frameshift variant +1 more)	Diamond-Blackfan anemia 4	GPathogenic
Select item 12999	NM_001021.6(RPS17):c.2T>G (p.Met1Arg)	RPS17 (M1R)	Single nucleotide variant (missense variant +2 more)	Diamond-Blackfan anemia	GPathogenic

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