C1859566[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 884950	NM_144596.4(TTC8):c.800T>A (p.Val267Asp)	TTC8 (V283D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 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 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 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 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 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 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 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 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 314803	NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)	TTC8 (T473A +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

ClinVar

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Items: 42