"PreventionGenetics, part of Exact Sciences"[submitter] AND "IFT88"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1591717	NM_006531.5(IFT88):c.86T>C (p.Ile29Thr)	IFT88 (I29T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1593767	NM_006531.5(IFT88):c.250A>G (p.Thr84Ala)	IFT88 (T65A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1630764	NM_006531.5(IFT88):c.264+9A>G	IFT88	Single nucleotide variant (intron variant)	IFT88-related disorder +1 more	GLikely benign
Select item 1581747	NM_006531.5(IFT88):c.346C>T (p.Leu116Phe)	IFT88 (L116F +2 more)	Single nucleotide variant (missense variant +2 more)	IFT88-related disorder +1 more	GBenign
Select item 1657986	NM_006531.5(IFT88):c.522A>G (p.Lys174=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	IFT88-related disorder +1 more	GLikely benign
Select item 3052318	NM_006531.5(IFT88):c.660T>C (p.Tyr220=)	IFT88	Single nucleotide variant (synonymous variant +1 more)	IFT88-related disorder	GLikely benign
Select item 1606554	NM_006531.5(IFT88):c.698-7A>T	IFT88	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1576163	NM_006531.5(IFT88):c.770G>A (p.Arg257Gln)	IFT88 (R238Q +3 more)	Single nucleotide variant (missense variant +1 more)	IFT88-related disorder +1 more	GLikely benign
Select item 1438114	NM_006531.5(IFT88):c.1203C>T (p.Cys401=)	IFT88	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1935210	NM_006531.5(IFT88):c.1593A>G (p.Leu531=)	IFT88	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 730872	NM_006531.5(IFT88):c.1604A>T (p.Asp535Val)	IFT88 (D487V +7 more)	Single nucleotide variant (missense variant +1 more)	IFT88-related disorder +1 more	GLikely benign
Select item 3036334	NM_006531.5(IFT88):c.1902A>G (p.Gln634=)	IFT88	Single nucleotide variant (synonymous variant +1 more)	IFT88-related disorder	GLikely benign
Select item 2043653	NM_006531.5(IFT88):c.1950-4A>G	IFT88	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2048498	NM_006531.5(IFT88):c.2064C>T (p.Val688=)	IFT88	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3032658	NM_006531.5(IFT88):c.2175+8A>C	IFT88	Single nucleotide variant (intron variant)	IFT88-related disorder	GLikely benign
Select item 1981205	NM_006531.5(IFT88):c.2175+10A>G	IFT88	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1552904	NM_006531.5(IFT88):c.2238C>T (p.Ser746=)	IFT88	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign