ClinVar for Gene (Select 123016) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 499

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3240667	NM_144596.4(TTC8):c.625-1G>T	TTC8	Single nucleotide variant (splice acceptor variant)	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 3240665	NM_144596.4(TTC8):c.711-2A>G	TTC8	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 51	GLikely 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 3236396	NM_144596.4(TTC8):c.462_465del (p.Ser155fs)	TTC8 (S145fs +1 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome 8	GPathogenic
Select item 3184401	NM_144596.4(TTC8):c.1507C>T (p.His503Tyr)	TTC8 (H463Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3053033	NM_144596.4(TTC8):c.624+2739T>A	TTC8	Single nucleotide variant (intron variant)	TTC8-related disorder	GUncertain significance
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 disorder	GUncertain significance
Select item 3048459	NM_144596.4(TTC8):c.-20C>A	TTC8	Single nucleotide variant (5 prime UTR variant +1 more)	TTC8-related disorder	GLikely benign
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 disorder	GUncertain significance
Select item 3043087	NM_144596.4(TTC8):c.579+43C>T	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related disorder	GLikely 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 disorder	GUncertain significance
Select item 3035195	NM_144596.4(TTC8):c.1527G>A (p.Arg509=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related disorder	GLikely benign
Select item 3032387	NM_144596.4(TTC8):c.624+2771A>G	TTC8	Single nucleotide variant (synonymous variant +1 more)	TTC8-related disorder	GLikely benign
Select item 3031669	NM_144596.4(TTC8):c.115-5T>G	TTC8	Single nucleotide variant (intron variant)	TTC8-related disorder	GLikely benign
Select item 3029970	NM_144596.4(TTC8):c.94G>A (p.Glu32Lys)	TTC8 (E32K)	Single nucleotide variant (missense variant +2 more)	TTC8-related disorder	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 disorder	GUncertain significance
Select item 3028309	NM_144596.4(TTC8):c.1493A>T (p.His498Leu)	TTC8 (H259L +7 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028308	NM_144596.4(TTC8):c.1296G>T (p.Glu432Asp)	TTC8 (E193D +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028307	NM_144596.4(TTC8):c.1261A>C (p.Arg421=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028306	NM_144596.4(TTC8):c.1199G>C (p.Trp400Ser)	TTC8 (W161S +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028305	NM_144596.4(TTC8):c.958A>G (p.Lys320Glu)	TTC8 (K122E +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028303	NM_144596.4(TTC8):c.935C>T (p.Ala312Val)	TTC8 (A114V +5 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028302	NM_144596.4(TTC8):c.536G>A (p.Arg179Lys)	TTC8 (R169K +1 more)	Single nucleotide variant (missense variant +3 more)	Retinal dystrophy	GUncertain significance
Select item 3028301	NM_144596.4(TTC8):c.476T>C (p.Val159Ala)	TTC8 (V149A +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028300	NM_144596.4(TTC8):c.423A>G (p.Thr141=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028299	NM_144596.4(TTC8):c.358A>G (p.Thr120Ala)	TTC8 (T110A +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028297	NM_144596.4(TTC8):c.151T>C (p.Trp51Arg)	TTC8 (W41R +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028296	NM_144596.4(TTC8):c.102C>T (p.Ser34=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	TTC8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3028295	NM_144596.4(TTC8):c.80G>A (p.Cys27Tyr)	TTC8 (C27Y)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028294	NM_144596.4(TTC8):c.63G>A (p.Gln21=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3023346	NM_144596.4(TTC8):c.1224+15T>G	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3021299	NM_144596.4(TTC8):c.729A>G (p.Glu243=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3001709	NM_144596.4(TTC8):c.1071T>A (p.Ile357=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2906222	NM_144596.4(TTC8):c.390A>G (p.Gly130=)	TTC8	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2879424	NM_144596.4(TTC8):c.784C>T (p.Leu262=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2852122	NM_144596.4(TTC8):c.1281C>T (p.Asn427=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2835458	NM_144596.4(TTC8):c.799-1G>T	TTC8	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2834575	NM_144596.4(TTC8):c.114+19C>T	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2825560	NM_144596.4(TTC8):c.864T>C (p.Phe288=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2825116	NM_144596.4(TTC8):c.1225-12T>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2820340	NM_144596.4(TTC8):c.1449A>G (p.Arg483=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2791122	NM_144596.4(TTC8):c.1224+8G>T	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2775875	NM_144596.4(TTC8):c.1224+20T>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2757338	NM_144596.4(TTC8):c.507T>C (p.Ser169=)	TTC8	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2740930	NM_144596.4(TTC8):c.579+19T>G	TTC8 (I2M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2739224	NM_144596.4(TTC8):c.738A>G (p.Lys246=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2729078	NM_144596.4(TTC8):c.1050-20G>A	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2725692	NM_144596.4(TTC8):c.789C>T (p.Tyr263=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2724823	NM_144596.4(TTC8):c.112C>T (p.Gln38Ter)	TTC8 (Q38*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2719007	NM_144596.4(TTC8):c.910-6G>A	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 2713323	NM_144596.4(TTC8):c.585G>A (p.Leu195=)	TTC8	Single nucleotide variant (intron variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2703349	NM_144596.4(TTC8):c.1401G>T (p.Pro467=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2700583	NM_144596.4(TTC8):c.329+11C>G	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
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 2636552	NM_144596.4(TTC8):c.463T>C (p.Ser155Pro)	TTC8 (S145P +1 more)	Single nucleotide variant (missense variant +2 more)	TTC8-related disorder	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 disorder +1 more	GUncertain significance
Select item 2632412	NM_144596.4(TTC8):c.624+2824dup	TTC8 (N224fs)	Duplication (frameshift variant +1 more)	TTC8-related disorder	GUncertain significance
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 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2517438	NM_144596.4(TTC8):c.437A>G (p.Tyr146Cys)	TTC8 (Y146C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2498313	NM_144596.4(TTC8):c.699del (p.Lys233fs)	TTC8 (K193fs +4 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2498294	NM_144596.4(TTC8):c.572del (p.Leu191fs)	TTC8 (L181fs +1 more)	Deletion (frameshift variant +3 more)	Bardet-Biedl syndrome	GPathogenic
Select item 2462202	NM_144596.4(TTC8):c.146C>A (p.Ala49Glu)	TTC8 (A39E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2437395	NM_144596.4(TTC8):c.1400C>T (p.Pro467Leu)	TTC8 (P228L +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2434309	NM_144596.4(TTC8):c.466G>T (p.Gly156Ter)	TTC8 (G146* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	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 2427649	NC_000014.8:g.(?_89319295)_(89319420_?)del	TTC8	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 2420505	NM_144596.4(TTC8):c.5G>T (p.Ser2Ile)	TTC8 (S2I)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
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 2414078	NM_144596.4(TTC8):c.398G>A (p.Gly133Asp)	TTC8 (G123D +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2284901	NM_144596.4(TTC8):c.433G>T (p.Ala145Ser)	TTC8 (A135S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2255676	NM_144596.4(TTC8):c.214G>A (p.Glu72Lys)	TTC8 (E62K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2243300	NM_144596.4(TTC8):c.1492C>T (p.His498Tyr)	TTC8 (H488Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242226	NM_144596.4(TTC8):c.1063A>G (p.Met355Val)	TTC8 (M116V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 5