Related gene-specific medical variations for Gene (Select 6223) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248435	NC_000019.9:g.(?_42373081)_(42373843_?)del	RPS19	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 3065914	NM_001022.4(RPS19):c.186_187del (p.His63fs)	RPS19 (A67fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 2736899	NM_001022.4(RPS19):c.357-2A>G	MIR6797, RPS19	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia	GPathogenic
Select item 2716436	NM_001022.4(RPS19):c.357-3C>A	MIR6797, RPS19	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia	GUncertain significance
Select item 2690490	NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)	RPS19 (Q126* +1 more)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 1	GPathogenic
Select item 2435478	NM_001022.4(RPS19):c.124C>T (p.His42Tyr)	RPS19 (H42Y)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 1960938	NM_001022.4(RPS19):c.357-10C>T	MIR6797, RPS19	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1711089	NM_001022.4(RPS19):c.138_139dup (p.Pro47fs)	RPS19 (P47fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1711088	NM_001022.4(RPS19):c.134_135inv (p.Leu45Gln)	RPS19	Inversion (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1642265	NM_001022.4(RPS19):c.357-17C>T	MIR6797, RPS19	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1595351	NM_001022.4(RPS19):c.357-6C>T	MIR6797, RPS19	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia	GLikely benign
Select item 1323536	NM_001022.4(RPS19):c.403_404del (p.Ala135fs)	RPS19 (A135fs +1 more)	Deletion (frameshift variant)	Diamond-Blackfan anemia 1	GPathogenic
Select item 894444	NM_001022.4(RPS19):c.357-5C>G	MIR6797, RPS19	Single nucleotide variant (non-coding transcript variant +1 more)	Diamond-Blackfan anemia 1	GUncertain significance
Select item 871299	NM_001022.4(RPS19):c.131_132del (p.Glu44fs)	RPS19 (E44fs)	Microsatellite (frameshift variant)	not provided	GPathogenic