"PRPF6-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1159262	NM_012469.4(PRPF6):c.417A>G (p.Gln139=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3032197	NM_012469.4(PRPF6):c.438+7C>T	PRPF6	Single nucleotide variant (intron variant)	PRPF6-related condition	GLikely benign
Select item 1615576	NM_012469.4(PRPF6):c.798C>T (p.Thr266=)	PRPF6	Single nucleotide variant (synonymous variant)	PRPF6-related condition +1 more	GLikely benign
Select item 778898	NM_012469.4(PRPF6):c.1023+8_1023+21del	PRPF6	Deletion (intron variant)	not provided +1 more	GBenign
Select item 739388	NM_012469.4(PRPF6):c.1039C>T (p.Leu347=)	PRPF6	Single nucleotide variant (synonymous variant)	PRPF6-related condition +1 more	GLikely benign
Select item 339470	NM_012469.4(PRPF6):c.1164A>G (p.Ala388=)	PRPF6	Single nucleotide variant (synonymous variant)	PRPF6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3033889	NM_012469.4(PRPF6):c.1376A>G (p.Asn459Ser)	PRPF6 (N459S)	Single nucleotide variant (missense variant)	PRPF6-related condition	GUncertain significance
Select item 1169462	NM_012469.4(PRPF6):c.1695C>T (p.Tyr565=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign/Likely benign
Select item 743761	NM_012469.4(PRPF6):c.1974C>T (p.Tyr658=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 749069	NM_012469.4(PRPF6):c.2205+5G>C	PRPF6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 339481	NM_012469.4(PRPF6):c.2328C>T (p.Asn776=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 729366	NM_012469.4(PRPF6):c.2484C>G (p.Thr828=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1152390	NM_012469.4(PRPF6):c.2490C>T (p.Ser830=)	PRPF6	Single nucleotide variant (synonymous variant)	PRPF6-related condition +1 more	GLikely benign
Select item 708849	NM_012469.4(PRPF6):c.2616G>A (p.Ser872=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1542015	NM_012469.4(PRPF6):c.2691G>A (p.Val897=)	PRPF6	Single nucleotide variant (synonymous variant)	PRPF6-related condition +1 more	GLikely benign