ClinVar for MedGen (Select 347181) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075693	NM_144596.4(TTC8):c.1252C>T (p.Gln418Ter)	TTC8 (Q179* +5 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 8	GPathogenic
Select item 3065617	NM_144596.4(TTC8):c.946A>C (p.Lys316Gln)	TTC8 (K118Q +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 8	GUncertain significance
Select item 3065384	NM_144596.4(TTC8):c.79dup (p.Cys27fs)	TTC8 (C27fs)	Duplication (frameshift variant +2 more)	Bardet-Biedl syndrome 8	GLikely pathogenic
Select item 2584609	NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)	TTC8 (P132L +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8	GUncertain significance
Select item 2577456	NM_144596.4(TTC8):c.114+1G>T	TTC8	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 8	GPathogenic
Select item 2502219	NM_144596.4(TTC8):c.798+256T>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 8	GUncertain significance
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 1487906	NM_144596.4(TTC8):c.114+2T>C	TTC8	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
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 1465677	NM_144596.4(TTC8):c.104C>A (p.Pro35His)	TTC8 (P35H)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +1 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 1367817	NM_144596.4(TTC8):c.1420A>G (p.Ile474Val)	TTC8 (I464V +5 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1332849	NM_144596.4(TTC8):c.265+5G>A	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 8	GUncertain significance
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 974557	NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del	TTC8	Deletion	Bardet-Biedl syndrome 8	GPathogenic
Select item 974367	NM_144596.4(TTC8):c.69del (p.Cys23fs)	TTC8 (C23fs)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 8	GLikely 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 917966	NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr)	TTC8 (C194Y +4 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8	GLikely pathogenic
Select item 888138	NM_144596.4(TTC8):c.*45A>C	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 888137	NM_144596.4(TTC8):c.*17A>G	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 888085	NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)	TTC8 (A16T +4 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +2 more	GUncertain significance
Select item 886935	NM_144596.4(TTC8):c.*493T>C	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 886805	NM_144596.4(TTC8):c.417C>G (p.Ile139Met)	TTC8 (I139M +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +1 more	GUncertain significance
Select item 886804	NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)	TTC8 (T102I +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +1 more	GUncertain significance
Select item 885930	NM_144596.4(TTC8):c.*418G>A	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 885929	NM_144596.4(TTC8):c.*377C>T	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 885017	NM_144596.4(TTC8):c.*93G>A	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 885016	NM_144596.4(TTC8):c.*92C>T	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 885015	NM_144596.4(TTC8):c.*57C>T	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +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 884951	NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)	TTC8 (E317A +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
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 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 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 314809	NM_144596.4(TTC8):c.*472A>C	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 8 +1 more	GBenign
Select item 314808	NM_144596.4(TTC8):c.*247T>C	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 314807	NM_144596.4(TTC8):c.*238G>A	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GBenign
Select item 314806	NM_144596.4(TTC8):c.*83A>G	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 314805	NM_144596.4(TTC8):c.1491C>T (p.Asp497=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
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 314803	NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)	TTC8 (T473A +5 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +4 more	GUncertain significance
Select item 314802	NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)	TTC8 (A451V +5 more)	Single nucleotide variant (missense variant +2 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 314800	NM_144596.4(TTC8):c.799-11C>T	TTC8	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 314799	NM_144596.4(TTC8):c.330-15T>A	TTC8	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 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 314797	NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)	TTC8 (S2N)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 314796	NM_144596.4(TTC8):c.-38C>A	TTC8	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 314795	NM_144596.4(TTC8):c.-44C>T	TTC8	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
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 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 262514	NM_144596.4(TTC8):c.1432-12T>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +3 more	GBenign
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 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 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 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 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 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 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 2531	NM_144596.4(TTC8):c.624+1G>A	TTC8	Single nucleotide variant (intron variant +1 more)	not provided +1 more	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
Select item 2529	NM_144596.4(TTC8):c.1049+2_1049+4del	TTC8	Deletion (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 2528	NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del)	TTC8	Deletion (inframe_deletion +3 more)	Bardet-Biedl syndrome 8	GPathogenic

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Items: 91