"Eurofins Ntd Llc (ga)"[submitter] AND "PRPF8"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197470	NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 197011	NM_006445.4(PRPF8):c.5943G>C (p.Val1981=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 197012	NM_006445.4(PRPF8):c.5794-3C>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +1 more	GUncertain significance
Select item 286517	NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 596322	NM_006445.4(PRPF8):c.5376+6T>C	PRPF8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 196868	NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 196787	NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 498291	NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 196132	NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)	PRPF8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 593128	NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 499585	NM_006445.4(PRPF8):c.2619C>T (p.Asn873=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 167540	NM_006445.4(PRPF8):c.2235C>G (p.Ala745=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 281811	NM_006445.4(PRPF8):c.1929C>T (p.Gly643=)	PRPF8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 281806	NM_006445.4(PRPF8):c.1666C>T (p.Leu556=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 497896	NM_006445.4(PRPF8):c.306C>T (p.Leu102=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 196436	NM_006445.4(PRPF8):c.101-3C>T	PRPF8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 596539	NM_006445.4(PRPF8):c.56C>T (p.Ala19Val)	PRPF8 (A19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167541	NM_006445.4(PRPF8):c.52C>T (p.Leu18=)	PRPF8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign