C3150715[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679379	NM_144596.4(TTC8):c.94G>T (p.Glu32Ter)	TTC8 (E32*)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679375	NM_144596.4(TTC8):c.201_204del (p.Ile67fs)	TTC8 (I57fs +1 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679368	NM_144596.4(TTC8):c.214G>T (p.Glu72Ter)	TTC8 (E62* +1 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2428023	NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)	TTC8 (Q76* +1 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 51 +1 more	GPathogenic
Select item 2679381	NM_144596.4(TTC8):c.265+1del	TTC8	Deletion (splice donor variant)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 1443806	NM_144596.4(TTC8):c.293del (p.Gly98fs)	TTC8 (G98fs +1 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2530	NM_144596.4(TTC8):c.489G>A (p.Thr163=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome +6 more	GConflicting classifications of pathogenicity
Select item 2679383	NM_144596.4(TTC8):c.532_535del (p.Ser178fs)	TTC8 (S168fs +1 more)	Deletion (frameshift variant +3 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 3240666	NM_144596.4(TTC8):c.555T>G (p.Tyr185Ter)	TTC8 (Y175* +1 more)	Single nucleotide variant (nonsense +3 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 997900	NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)	TTC8 (Q177* +1 more)	Single nucleotide variant (nonsense +3 more)	Retinitis pigmentosa 51 +2 more	GPathogenic/Likely pathogenic
Select item 2679373	NM_144596.4(TTC8):c.600dup (p.His201fs)	TTC8 (H161fs +2 more)	Duplication (frameshift variant +3 more)	Retinitis pigmentosa 51 +1 more	GPathogenic/Likely pathogenic
Select item 2679369	NM_144596.4(TTC8):c.624+1_624+2del	TTC8	Deletion (intron variant +1 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 3240667	NM_144596.4(TTC8):c.625-1G>T	TTC8	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679376	NM_144596.4(TTC8):c.638dup (p.Ala214fs)	TTC8 (A16fs +4 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2415756	NM_144596.4(TTC8):c.677G>A (p.Trp226Ter)	TTC8 (W186* +4 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 51 +1 more	GPathogenic/Likely pathogenic
Select item 3240664	NM_144596.4(TTC8):c.681G>A (p.Trp227Ter)	TTC8 (W187* +4 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 3240665	NM_144596.4(TTC8):c.711-2A>G	TTC8	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 3240668	NM_144596.4(TTC8):c.739C>T (p.Gln247Ter)	TTC8 (Q207* +5 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2434312	NM_144596.4(TTC8):c.747del (p.Lys249fs)	TTC8 (K10fs +5 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1067170	NM_144596.4(TTC8):c.799-2A>G	TTC8	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 2679380	NM_144596.4(TTC8):c.823_839dup (p.Leu280_Phe281insTer)	TTC8	Duplication (nonsense +2 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679378	NM_144596.4(TTC8):c.851del (p.Gly284fs)	TTC8 (G244fs +5 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 930561	NM_144596.4(TTC8):c.915del (p.Met305fs)	TTC8 (M265fs +5 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2126790	NM_144596.4(TTC8):c.936del (p.Glu313fs)	TTC8 (E303fs +5 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679374	NM_144596.4(TTC8):c.949G>T (p.Glu317Ter)	TTC8 (E119* +5 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679372	NM_144596.4(TTC8):c.1132_1133del (p.Met378fs)	TTC8 (M139fs +5 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679384	NM_144596.4(TTC8):c.1131_1135delinsC (p.Met378fs)	TTC8 (M139fs +5 more)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679371	NM_144596.4(TTC8):c.1224+1G>C	TTC8	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679377	NM_144596.4(TTC8):c.1309dup (p.Leu437fs)	TTC8 (L198fs +5 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 51	GLikely pathogenic
Select item 2679370	NM_144596.4(TTC8):c.1348-1G>A	TTC8	Single nucleotide variant (splice acceptor variant +1 more)	Retinitis pigmentosa 51	GLikely pathogenic

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Items: 30