"Illumina Laboratory Services, Illumina"[submitter] AND "NRL"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312923	NM_001354768.3(NRL):c.*1127T>C	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312924	NM_001354768.3(NRL):c.*1118G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312925	NM_001354768.3(NRL):c.*1043G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312926	NM_001354768.3(NRL):c.*935C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 884148	NM_001354768.3(NRL):c.*864G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312927	NM_001354768.3(NRL):c.*834G>C	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312928	NM_001354768.3(NRL):c.*813G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312929	NM_001354768.3(NRL):c.*780G>C	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 880864	NM_001354768.3(NRL):c.*778C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 880865	NM_001354768.3(NRL):c.*673C>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312930	NM_001354768.3(NRL):c.*667C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312931	NM_001354768.3(NRL):c.*558C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312932	NM_001354768.3(NRL):c.*480A>G	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312933	NM_001354768.3(NRL):c.*472C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 882237	NM_001354768.3(NRL):c.*301A>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 312934	NM_001354768.3(NRL):c.*283del	NRL	Deletion (3 prime UTR variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 312935	NM_001354768.3(NRL):c.*221G>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312936	NM_001354768.3(NRL):c.*213C>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 312937	NM_001354768.3(NRL):c.*173A>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 312938	NM_001354768.3(NRL):c.*113C>A	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 312939	NM_001354768.3(NRL):c.*108C>T	NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 312940	NM_001354768.3(NRL):c.*56G>A	LOC130055387, NRL	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 167386	NM_001354768.3(NRL):c.711C>G (p.Leu237=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 882486	NM_001354768.3(NRL):c.645C>T (p.Tyr215=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312941	NM_001354768.3(NRL):c.441G>A (p.Arg147=)	NRL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 882487	NM_001354768.3(NRL):c.425T>C (p.Val142Ala)	NRL (V142A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 882488	NM_001354768.3(NRL):c.407C>T (p.Ala136Val)	NRL (A136V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 713521	NM_001354768.3(NRL):c.399C>T (p.Ser133=)	NRL	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 807100	NM_001354768.3(NRL):c.375C>G (p.His125Gln)	NRL (H125Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884209	NM_001354768.3(NRL):c.227C>G (p.Ala76Gly)	NRL (A76G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 882489	NM_001354768.3(NRL):c.227C>T (p.Ala76Val)	NRL (A76V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 631708	NM_001354768.3(NRL):c.16del (p.Ser6fs)	NRL (S6fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GUncertain significance
Select item 312942	NM_001354768.3(NRL):c.-25G>C	NRL	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 631709	NM_001354768.3(NRL):c.-27-2A>G	NRL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GUncertain significance
Select item 884210	NM_001354768.3(NRL):c.-27-1663C>T	NRL	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance

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Items: 35