ClinVar for MedGen (Select 934593) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338286	NM_138393.4(REEP6):c.276C>A (p.Tyr92Ter)	REEP6 (Y92*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 77	GLikely pathogenic
Select item 1213893	NM_138393.4(REEP6):c.349-1G>A	REEP6	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 77	GPathogenic
Select item 1185531	NM_138393.4(REEP6):c.518-29C>T	REEP6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185482	NM_138393.4(REEP6):c.518-52G>T	REEP6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185481	NM_138393.4(REEP6):c.518-113C>T	REEP6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 77 +1 more	GBenign
Select item 1185480	NM_138393.4(REEP6):c.517+265GC[6]	REEP6	Microsatellite (intron variant)	Retinitis pigmentosa 77	GBenign
Select item 1185479	NM_138393.4(REEP6):c.349-21A>G	REEP6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185478	NM_138393.4(REEP6):c.348+28G>A	REEP6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 77 +1 more	GBenign
Select item 1164954	NM_138393.4(REEP6):c.116-16C>T	REEP6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1019378	NM_138393.4(REEP6):c.349-4G>T	REEP6	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 860344	NM_138393.4(REEP6):c.223G>A (p.Glu75Lys)	REEP6 (E75K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 77 +1 more	GConflicting classifications of pathogenicity
Select item 375312	NM_138393.4(REEP6):c.448del (p.Ala150fs)	REEP6 (A150fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 374992	NM_138393.4(REEP6):c.383C>T (p.Pro128Leu)	REEP6 (P128L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 77	GPathogenic
Select item 374991	NM_001329556.3(REEP6):c.557dup (p.Val187fs)	REEP6 (V187fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 77	GPathogenic
Select item 374989	NM_138393.4(REEP6):c.404T>C (p.Leu135Pro)	REEP6 (L135P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic