"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRUNE1"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2065280	NM_021222.3(PRUNE1):c.30T>C (p.Ala10=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	PRUNE1-related disorder +1 more	GLikely benign
Select item 2050841	NM_021222.3(PRUNE1):c.44C>T (p.Ser15Phe)	PRUNE1 (S15F)	Single nucleotide variant (5 prime UTR variant +2 more)	PRUNE1-related disorder +1 more	GBenign
Select item 3029943	NM_021222.3(PRUNE1):c.382C>T (p.Arg128Ter)	PRUNE1 (R128*)	Single nucleotide variant (5 prime UTR variant +2 more)	PRUNE1-related disorder	GLikely pathogenic
Select item 767697	NM_021222.3(PRUNE1):c.404G>A (p.Cys135Tyr)	PRUNE1 (C135Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 2762701	NM_021222.3(PRUNE1):c.460G>A (p.Glu154Lys)	PRUNE1 (E154K)	Single nucleotide variant (5 prime UTR variant +2 more)	PRUNE1-related disorder +1 more	GBenign
Select item 265536	NM_021222.3(PRUNE1):c.521-2A>G	PRUNE1	Single nucleotide variant (splice acceptor variant +1 more)	PRUNE1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2002792	NM_021222.3(PRUNE1):c.708A>G (p.Lys236=)	PRUNE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2060094	NM_021222.3(PRUNE1):c.736G>A (p.Val246Ile)	PRUNE1 (V64I +2 more)	Single nucleotide variant (missense variant +1 more)	PRUNE1-related disorder +1 more	GBenign/Likely benign
Select item 2049102	NM_021222.3(PRUNE1):c.1058C>G (p.Pro353Arg)	PRUNE1 (P171R +3 more)	Single nucleotide variant (missense variant +1 more)	PRUNE1-related disorder +1 more	GBenign/Likely benign
Select item 2162615	NM_021222.3(PRUNE1):c.1191C>G (p.Gly397=)	PRUNE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2083106	NM_021222.3(PRUNE1):c.1227G>A (p.Pro409=)	PRUNE1	Single nucleotide variant (synonymous variant +1 more)	PRUNE1-related disorder +1 more	GLikely benign