ClinVar for MedGen (Select 462065) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2679381	NM_144596.4(TTC8):c.265+1del	TTC8	Deletion (splice donor variant)	Retinitis pigmentosa 51	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 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 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 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 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 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 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 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 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 2679371	NM_144596.4(TTC8):c.1224+1G>C	TTC8	Single nucleotide variant (splice donor variant)	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
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 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 2434312	NM_144596.4(TTC8):c.747del (p.Lys249fs)	TTC8 (K10fs +5 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2428023	NM_144596.4(TTC8):c.256C>T (p.Gln86Ter)	TTC8 (Q76* +1 more)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome +1 more	GPathogenic
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 2126790	NM_144596.4(TTC8):c.936del (p.Glu313fs)	TTC8 (E303fs +5 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 51 +1 more	GPathogenic/Likely pathogenic
Select item 1694464	NM_144596.4(TTC8):c.265+1G>A	TTC8	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1638195	NM_144596.4(TTC8):c.54G>A (p.Arg18=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1627334	NM_144596.4(TTC8):c.1464G>A (p.Ala488=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 51 +3 more	GLikely benign
Select item 1626295	NM_144596.4(TTC8):c.1347+18G>A	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 8 +2 more	GLikely benign
Select item 1614615	NM_144596.4(TTC8):c.114+12C>A	TTC8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 51 +2 more	GLikely benign
Select item 1505027	NM_144596.4(TTC8):c.1402C>T (p.His468Tyr)	TTC8 (H270Y +5 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1478629	NM_144596.4(TTC8):c.983C>T (p.Ala328Val)	TTC8 (A130V +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 8 +2 more	GUncertain significance
Select item 1439351	NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)	TTC8 (I151N +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition +4 more	GUncertain significance
Select item 1436521	NM_144596.4(TTC8):c.308G>T (p.Gly103Val)	TTC8 (G103V +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1420078	NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys)	TTC8 (Q216K +5 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1416630	NM_144596.4(TTC8):c.145-10T>C	TTC8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 51 +2 more	GConflicting classifications of pathogenicity
Select item 1415185	NM_144596.4(TTC8):c.913A>G (p.Met305Val)	TTC8 (M265V +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 8 +2 more	GUncertain significance
Select item 1385950	NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)	TTC8 (F15L)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome 8 +2 more	GUncertain significance
Select item 1213931	NM_144596.4(TTC8):c.1343_1347+17del	TTC8	Deletion (splice donor variant)	Retinitis pigmentosa 51	GPathogenic
Select item 1166815	NM_144596.4(TTC8):c.909+18T>C	TTC8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 51 +2 more	GBenign/Likely benign
Select item 1124179	NM_144596.4(TTC8):c.324C>T (p.Ala108=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +3 more	GLikely benign
Select item 1104906	NM_144596.4(TTC8):c.910-16T>G	TTC8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 51 +2 more	GLikely benign
Select item 1021106	NM_144596.4(TTC8):c.1133T>C (p.Met378Thr)	TTC8 (M139T +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51 +2 more	GUncertain significance
Select item 1007641	NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser)	TTC8 (G121S +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +3 more	GUncertain significance
Select item 1006376	NM_144596.4(TTC8):c.980A>G (p.Glu327Gly)	TTC8 (E129G +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51 +2 more	GUncertain significance
Select item 997900	NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)	TTC8 (Q177* +1 more)	Single nucleotide variant (nonsense +3 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 971451	NM_144596.4(TTC8):c.874G>A (p.Val292Ile)	TTC8 (V252I +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51 +2 more	GUncertain significance
Select item 968395	NM_144596.4(TTC8):c.1215T>G (p.His405Gln)	TTC8 (H365Q +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 942431	NM_144596.4(TTC8):c.488C>T (p.Thr163Met)	TTC8 (T153M +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +3 more	GUncertain significance
Select item 937310	NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)	TTC8 (S2G)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 51 +4 more	GConflicting classifications of pathogenicity
Select item 933395	NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)	TTC8 (L46F +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51 +2 more	GUncertain significance
Select item 930561	NM_144596.4(TTC8):c.915del (p.Met305fs)	TTC8 (M265fs +5 more)	Deletion (frameshift variant +1 more)	TTC8-related condition +2 more	GPathogenic/Likely pathogenic
Select item 884950	NM_144596.4(TTC8):c.800T>A (p.Val267Asp)	TTC8 (V283D +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 857791	NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)	TTC8 (A330T +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 849460	NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)	TTC8 (E193K +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51 +4 more	GUncertain significance
Select item 846493	NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)	TTC8 (E163K +2 more)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 844875	NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)	TTC8 (R411T +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51 +4 more	GUncertain significance
Select item 811307	NM_144596.4(TTC8):c.711-16A>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 8 +3 more	GLikely benign
Select item 804470	NM_144596.4(TTC8):c.265+1_265+2del	TTC8	Deletion (splice donor variant)	Retinitis pigmentosa 51 +1 more	GLikely pathogenic
Select item 636206	NM_144596.4(TTC8):c.433G>A (p.Ala145Thr)	TTC8 (A135T +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +4 more	GUncertain significance
Select item 531831	NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)	TTC8 (R443W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 423070	NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)	TTC8 (R341W +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 8 +3 more	GUncertain significance
Select item 314801	NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)	TTC8 (Y292C +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +4 more	GUncertain significance
Select item 235131	NM_144596.4(TTC8):c.1347G>C (p.Gln449His)	TTC8 (Q449H +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51	GPathogenic
Select item 2532	NM_144596.4(TTC8):c.115-2A>G	TTC8	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 51	GPathogenic
Select item 2530	NM_144596.4(TTC8):c.489G>A (p.Thr163=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy +7 more	GConflicting classifications of pathogenicity

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Items: 61