"PreventionGenetics, part of Exact Sciences"[submitter] AND "TTC8"[gen - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262512	NM_144596.4(TTC8):c.-25G>A	TTC8	Single nucleotide variant (5 prime UTR variant +1 more)	TTC8-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3048459	NM_144596.4(TTC8):c.-20C>A	TTC8	Single nucleotide variant (5 prime UTR variant +1 more)	TTC8-related condition	GLikely benign
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 3029970	NM_144596.4(TTC8):c.94G>A (p.Glu32Lys)	TTC8 (E32K)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition	GUncertain significance
Select item 3028296	NM_144596.4(TTC8):c.102C>T (p.Ser34=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	TTC8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 940976	NM_144596.4(TTC8):c.114+6G>C	TTC8	Single nucleotide variant (intron variant)	TTC8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3031669	NM_144596.4(TTC8):c.115-5T>G	TTC8	Single nucleotide variant (intron variant)	TTC8-related condition	GLikely benign
Select item 1170296	NM_144596.4(TTC8):c.145-7G>A	TTC8	Single nucleotide variant (intron variant)	TTC8-related condition +1 more	GBenign/Likely benign
Select item 3036120	NM_144596.4(TTC8):c.170C>T (p.Ala57Val)	TTC8 (A47V +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition	GUncertain significance
Select item 262515	NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)	TTC8 (D65G +1 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 196599	NM_144596.4(TTC8):c.267C>A (p.Arg89=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	TTC8-related condition +5 more	GConflicting classifications of pathogenicity
Select item 314798	NM_144596.4(TTC8):c.275C>T (p.Thr92Met)	TTC8 (T82M +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition +4 more	GUncertain significance
Select item 196600	NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)	TTC8 (K95R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 592323	NM_144596.4(TTC8):c.299A>G (p.Asn100Ser)	TTC8 (N100S +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GBenign/Likely benign
Select item 1487146	NM_144596.4(TTC8):c.322G>A (p.Ala108Thr)	TTC8 (A108T +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition +1 more	GUncertain significance
Select item 262516	NM_144596.4(TTC8):c.329+48T>C	TTC8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3049010	NM_144596.4(TTC8):c.337A>G (p.Thr113Ala)	TTC8 (T103A +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition	GUncertain significance
Select item 415628	NM_144596.4(TTC8):c.357T>C (p.Ile119=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	TTC8-related condition +1 more	GLikely benign
Select item 1641762	NM_144596.4(TTC8):c.372G>A (p.Arg124=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	TTC8-related condition +1 more	GLikely benign
Select item 1523817	NM_144596.4(TTC8):c.380C>T (p.Thr127Met)	TTC8 (T127M +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition +1 more	GUncertain significance
Select item 1368689	NM_144596.4(TTC8):c.401C>T (p.Thr134Ile)	TTC8 (T124I +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition +1 more	GUncertain significance
Select item 856237	NM_144596.4(TTC8):c.415A>G (p.Ile139Val)	TTC8 (I139V +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
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 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 2636552	NM_144596.4(TTC8):c.463T>C (p.Ser155Pro)	TTC8 (S145P +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition	GUncertain significance
Select item 188127	NM_144596.4(TTC8):c.484G>C (p.Gly162Arg)	TTC8 (G152R +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related condition +1 more	GUncertain significance
Select item 2530	NM_144596.4(TTC8):c.489G>A (p.Thr163=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	TTC8-related condition +7 more	GConflicting classifications of pathogenicity
Select item 3043087	NM_144596.4(TTC8):c.579+43C>T	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related condition	GLikely benign
Select item 3053033	NM_144596.4(TTC8):c.624+2739T>A	TTC8	Single nucleotide variant (intron variant)	TTC8-related condition	GUncertain significance
Select item 1049639	NM_144596.4(TTC8):c.624+2767T>C	TTC8 (V205A)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition	GUncertain significance
Select item 3032387	NM_144596.4(TTC8):c.624+2771A>G	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related condition	GLikely benign
Select item 2632412	NM_144596.4(TTC8):c.624+2824dup	TTC8 (N224fs)	Duplication (frameshift variant +1 more)	TTC8-related condition	GUncertain significance
Select item 100608	NM_144596.4(TTC8):c.625-5C>T	TTC8	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 262517	NM_144596.4(TTC8):c.669G>A (p.Lys223=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome 8 +4 more	GConflicting classifications of pathogenicity
Select item 1905169	NM_144596.4(TTC8):c.725G>A (p.Arg242His)	TTC8 (R258H +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +1 more	GUncertain significance
Select item 1100619	NM_144596.4(TTC8):c.777T>C (p.Asp259=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related condition +1 more	GLikely benign
Select item 2879424	NM_144596.4(TTC8):c.784C>T (p.Leu262=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related condition +1 more	GLikely benign
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 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 1496723	NM_144596.4(TTC8):c.923T>C (p.Met308Thr)	TTC8 (M298T +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3043679	NM_144596.4(TTC8):c.962A>G (p.Gln321Arg)	TTC8 (Q123R +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition	GUncertain significance
Select item 3029946	NM_144596.4(TTC8):c.1037T>C (p.Leu346Pro)	TTC8 (L107P +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition	GUncertain significance
Select item 2634121	NM_144596.4(TTC8):c.1039C>T (p.Arg347Trp)	TTC8 (R108W +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +1 more	GUncertain significance
Select item 884952	NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)	TTC8 (F150L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1408233	NM_144596.4(TTC8):c.1052G>A (p.Arg351Gln)	TTC8 (R351Q +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +1 more	GUncertain significance
Select item 215974	NM_144596.4(TTC8):c.1077C>T (p.Asn359=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
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 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 596386	NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg)	TTC8 (G411R +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +2 more	GConflicting classifications of pathogenicity
Select item 437079	NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)	TTC8 (Q408R +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
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 1441100	NM_144596.4(TTC8):c.1277A>T (p.Asn426Ile)	TTC8 (N187I +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +1 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 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 1039124	NM_144596.4(TTC8):c.1347+6T>G	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 262513	NM_144596.4(TTC8):c.1401G>A (p.Pro467=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	TTC8-related condition +4 more	GConflicting classifications of pathogenicity
Select item 262514	NM_144596.4(TTC8):c.1432-12T>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GBenign
Select item 314804	NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)	TTC8 (A478V +7 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +5 more	GConflicting classifications of pathogenicity
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 215548	NM_144596.4(TTC8):c.1464G>C (p.Ala488=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2203452	NM_144596.4(TTC8):c.1487C>T (p.Pro496Leu)	TTC8 (P456L +7 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +2 more	GUncertain significance
Select item 3035195	NM_144596.4(TTC8):c.1527G>A (p.Arg509=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related condition	GLikely benign
Select item 262511	NM_144596.4(TTC8):c.*16C>T	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign

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Items: 63