123016[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 645863	NC_000014.8:g.(?_88852143)_(89343774_?)dup	EML5, LOC129390658 +13 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 58333	GRCh38/hg38 14q31.3(chr14:88680251-89032671)x3	EML5, LOC126862017 +8 more	Copy number gain	See cases	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 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 262512	NM_144596.4(TTC8):c.-25G>A	TTC8	Single nucleotide variant (5 prime UTR variant +1 more)	TTC8-related disorder +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 disorder	GLikely benign
Select item 2162575	NM_144596.4(TTC8):c.1A>T (p.Met1Leu)	TTC8 (M1L)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1053246	NM_144596.4(TTC8):c.1A>G (p.Met1Val)	TTC8 (M1V)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1462648	NM_144596.4(TTC8):c.2T>C (p.Met1Thr)	TTC8 (M1T)	Single nucleotide variant (missense variant +3 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 937310	NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)	TTC8 (S2G)	Single nucleotide variant (missense variant +2 more)	TTC8-related disorder +4 more	GConflicting classifications of pathogenicity
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 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 1483015	NM_144596.4(TTC8):c.8C>T (p.Ser3Leu)	TTC8 (S3L)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1008575	NM_144596.4(TTC8):c.8C>G (p.Ser3Trp)	TTC8 (S3W)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1158804	NM_144596.4(TTC8):c.22C>T (p.Leu8=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1471826	NM_144596.4(TTC8):c.23T>A (p.Leu8Gln)	TTC8 (L8Q)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1366355	NM_144596.4(TTC8):c.34T>G (p.Trp12Gly)	TTC8 (W12G)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	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 2045942	NM_144596.4(TTC8):c.52A>C (p.Arg18=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
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 1494846	NM_144596.4(TTC8):c.62A>T (p.Gln21Leu)	TTC8 (Q21L)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1447657	NM_144596.4(TTC8):c.62A>G (p.Gln21Arg)	TTC8 (Q21R)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	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 1543305	NM_144596.4(TTC8):c.69C>T (p.Cys23=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
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 1435354	NM_144596.4(TTC8):c.73G>T (p.Asp25Tyr)	TTC8 (D25Y)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	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 1019909	NM_144596.4(TTC8):c.79T>C (p.Cys27Arg)	TTC8 (C27R)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
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 938356	NM_144596.4(TTC8):c.83C>A (p.Thr28Lys)	TTC8 (T28K)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1120930	NM_144596.4(TTC8):c.84G>A (p.Thr28=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	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 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 1910688	NM_144596.4(TTC8):c.96G>A (p.Glu32=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
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 1406534	NM_144596.4(TTC8):c.103C>T (p.Pro35Ser)	TTC8 (P35S)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	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 1431284	NM_144596.4(TTC8):c.106dup (p.Tyr36fs)	TTC8 (Y36fs)	Duplication (frameshift variant +2 more)	Bardet-Biedl syndrome	GPathogenic
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 970324	NM_144596.4(TTC8):c.113A>G (p.Gln38Arg)	TTC8 (Q38R)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1044048	NM_144596.4(TTC8):c.114G>T (p.Gln38His)	TTC8 (Q38H)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	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 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 2023120	NM_144596.4(TTC8):c.114+5C>T	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GUncertain significance
Select item 940976	NM_144596.4(TTC8):c.114+6G>C	TTC8	Single nucleotide variant (intron variant)	TTC8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2083362	NM_144596.4(TTC8):c.114+7G>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	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 1980694	NM_144596.4(TTC8):c.114+15C>G	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2834575	NM_144596.4(TTC8):c.114+19C>T	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1276664	NM_144596.4(TTC8):c.114+233T>C	TTC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031669	NM_144596.4(TTC8):c.115-5T>G	TTC8	Single nucleotide variant (intron variant)	TTC8-related disorder	GLikely benign
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 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 1170296	NM_144596.4(TTC8):c.145-7G>A	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
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 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 1136861	NM_144596.4(TTC8):c.156C>T (p.Ile52=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 807158	NM_144596.4(TTC8):c.158T>C (p.Leu53Ser)	TTC8 (L43S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2163280	NM_144596.4(TTC8):c.163G>A (p.Ala55Thr)	TTC8 (A45T +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
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 1563507	NM_144596.4(TTC8):c.171G>A (p.Ala57=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2106331	NM_144596.4(TTC8):c.172C>A (p.Leu58Ile)	TTC8 (L48I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1984687	NM_144596.4(TTC8):c.174A>G (p.Leu58=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1015198	NM_144596.4(TTC8):c.175A>G (p.Thr59Ala)	TTC8 (T49A +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2149768	NM_144596.4(TTC8):c.177A>G (p.Thr59=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2110254	NM_144596.4(TTC8):c.183G>A (p.Met61Ile)	TTC8 (M61I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2075898	NM_144596.4(TTC8):c.192A>G (p.Ile64Met)	TTC8 (I64M +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1008626	NM_144596.4(TTC8):c.193G>A (p.Asp65Asn)	TTC8 (D55N +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	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 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 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 1417046	NM_144596.4(TTC8):c.221T>C (p.Ile74Thr)	TTC8 (I64T +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1993681	NM_144596.4(TTC8):c.222T>C (p.Ile74=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1980986	NM_144596.4(TTC8):c.224C>A (p.Ala75Glu)	TTC8 (A65E +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1715240	NM_144596.4(TTC8):c.250A>G (p.Ile84Val)	TTC8 (I74V +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GUncertain significance
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 1402234	NM_144596.4(TTC8):c.265C>T (p.Arg89Cys)	TTC8 (R89C +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 2679381	NM_144596.4(TTC8):c.265+1del	TTC8	Deletion (splice donor variant)	Retinitis pigmentosa 51	GLikely 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 804470	NM_144596.4(TTC8):c.265+1_265+2del	TTC8	Deletion (splice donor variant)	Retinitis pigmentosa 51 +1 more	GLikely pathogenic
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 1544686	NM_144596.4(TTC8):c.265+8T>G	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 2104340	NM_144596.4(TTC8):c.265+19G>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1657163	NM_144596.4(TTC8):c.266-10del	TTC8	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1540859	NM_144596.4(TTC8):c.266-5C>G	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1951804	NM_144596.4(TTC8):c.266-4C>A	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 1458440	NM_144596.4(TTC8):c.266-2A>G	TTC8	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome	GPathogenic
Select item 196599	NM_144596.4(TTC8):c.267C>A (p.Arg89=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	not provided +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)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 1935482	NM_144596.4(TTC8):c.276G>A (p.Thr92=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome	GLikely benign
Select item 196600	NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)	TTC8 (K95R +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +4 more	GConflicting classifications of pathogenicity
Select item 1443806	NM_144596.4(TTC8):c.293del (p.Gly98fs)	TTC8 (G98fs +1 more)	Deletion (frameshift variant +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 942584	NM_144596.4(TTC8):c.293G>A (p.Gly98Glu)	TTC8 (G88E +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1466682	NM_144596.4(TTC8):c.298A>G (p.Asn100Asp)	TTC8 (N90D +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GUncertain significance

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