"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRPF31"[g - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195310	NM_015629.4(PRPF31):c.138T>C (p.Asp46=)	PRPF31	Single nucleotide variant (synonymous variant)	PRPF31-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3040994	NM_015629.4(PRPF31):c.178-8T>C	PRPF31	Single nucleotide variant (intron variant)	PRPF31-related condition	GLikely benign
Select item 330097	NM_015629.4(PRPF31):c.420+7G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 11 +3 more	GBenign/Likely benign
Select item 1637369	NM_015629.4(PRPF31):c.552G>A (p.Leu184=)	PRPF31	Single nucleotide variant (synonymous variant)	PRPF31-related condition +1 more	GLikely benign
Select item 893467	NM_015629.4(PRPF31):c.582G>A (p.Ala194=)	PRPF31	Single nucleotide variant (synonymous variant)	PRPF31-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2095693	NM_015629.4(PRPF31):c.660C>T (p.Ser220=)	PRPF31	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1633614	NM_015629.4(PRPF31):c.684C>T (p.Ala228=)	PRPF31	Single nucleotide variant (synonymous variant)	PRPF31-related condition +2 more	GLikely benign
Select item 1654263	NM_015629.4(PRPF31):c.708C>T (p.Gly236=)	PRPF31	Single nucleotide variant (synonymous variant)	PRPF31-related condition +1 more	GLikely benign
Select item 865976	NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	PRPF31 (C299R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11 +4 more	GPathogenic/Likely pathogenic
Select item 1634714	NM_015629.4(PRPF31):c.954C>T (p.Tyr318=)	PRPF31	Single nucleotide variant (synonymous variant)	PRPF31-related condition +1 more	GLikely benign
Select item 1900814	NM_015629.4(PRPF31):c.1073+9C>T	PRPF31	Single nucleotide variant (intron variant)	PRPF31-related condition +1 more	GLikely benign
Select item 2024341	NM_015629.4(PRPF31):c.1263dup (p.Lys422fs)	PRPF31 (K422fs)	Duplication (frameshift variant)	PRPF31-related condition +1 more	GPathogenic
Select item 3039633	NM_015629.4(PRPF31):c.*7G>A	PRPF31	Single nucleotide variant (3 prime UTR variant)	PRPF31-related condition	GLikely benign