"Eurofins Ntd Llc (ga)"[submitter] AND "RP1L1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425431	NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)	RP1L1 (Q1987*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499361	NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)	RP1L1	Insertion (inframe_insertion)	Occult macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 283503	NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala)	RP1L1 (G1067A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 96555	NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu)	RP1L1 (S300L)	Single nucleotide variant (missense variant)	RP1L1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 96554	NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)	RP1L1 (V218L)	Single nucleotide variant (missense variant)	RP1L1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 444739	NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile)	RP1L1 (T150I)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GUncertain significance
Select item 284261	NM_178857.6(RP1L1):c.329C>T (p.Pro110Leu)	RP1L1 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193	NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	RP1L1 (R45W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GConflicting classifications of pathogenicity