"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRORP-PSM - ClinVar - NCBI

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Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327440	NM_017917.4(PPP2R3C):c.-9A>G	PRORP-PSMA6, LOC126861916 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	PPP2R3C-related disorder +2 more	GBenign
Select item 3043006	NM_014672.4(PRORP):c.686C>T (p.Ala229Val)	PRORP, PRORP-PSMA6 (A134V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3038940	NM_014672.4(PRORP):c.690G>A (p.Leu230=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +2 more)	PRORP-related disorder	GLikely benign
Select item 3041805	NM_014672.4(PRORP):c.1002A>G (p.Gln334=)	PRORP, PRORP-PSMA6	Single nucleotide variant (non-coding transcript variant +3 more)	PRORP-related disorder	GLikely benign
Select item 1292048	NM_014672.4(PRORP):c.1301C>A (p.Ala434Asp)	PRORP, PRORP-PSMA6 (A339D +3 more)	Single nucleotide variant (missense variant)	PRORP-related disorder	GBenign
Select item 3060555	NM_014672.4(PRORP):c.1310A>G (p.Asn437Ser)	PRORP, PRORP-PSMA6 (N342S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PRORP-related disorder	GBenign
Select item 3060375	NM_001282234.1(PSMA6):c.13C>T (p.Arg5Trp)	PRORP-PSMA6, PSMA6 (R5W)	Single nucleotide variant (non-coding transcript variant +1 more)	PSMA6-related disorder	GBenign
Select item 6796	NM_002791.3(PSMA6):c.-8C>G	PRORP-PSMA6, PSMA6	Single nucleotide variant (5 prime UTR variant +2 more)	PSMA6-related disorder	GBenign
Select item 3050747	NM_002791.3(PSMA6):c.172-10T>G	PRORP-PSMA6, PSMA6	Single nucleotide variant (intron variant)	PSMA6-related disorder	GLikely benign