"IFT74-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054820	NM_025103.4(IFT74):c.7A>G (p.Ser3Gly)	IFT74 (S3G)	Single nucleotide variant (missense variant)	IFT74-related condition	GUncertain significance
Select item 1919430	NM_025103.4(IFT74):c.17A>G (p.Lys6Arg)	IFT74 (K6R)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 2164189	NM_025103.4(IFT74):c.106C>T (p.Arg36Ter)	IFT74 (R36*)	Single nucleotide variant (nonsense)	IFT74-related condition +1 more	GPathogenic/Likely pathogenic
Select item 446698	NM_025103.4(IFT74):c.120+2dup	IFT74	Duplication (splice donor variant)	not provided +1 more	GUncertain significance
Select item 3053665	NM_025103.4(IFT74):c.131G>T (p.Gly44Val)	IFT74 (G44V)	Single nucleotide variant (missense variant)	IFT74-related condition	GUncertain significance
Select item 1415312	NM_025103.4(IFT74):c.152G>A (p.Arg51His)	IFT74 (R51H)	Single nucleotide variant (missense variant)	IFT74-related condition +3 more	GUncertain significance
Select item 684551	NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)	IFT74 (I55L)	Single nucleotide variant (missense variant)	IFT74-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1247882	NM_025103.4(IFT74):c.165A>G (p.Ile55Met)	IFT74 (I55M)	Single nucleotide variant (missense variant)	IFT74-related condition +2 more	GBenign
Select item 2192950	NM_025103.4(IFT74):c.173G>A (p.Gly58Asp)	IFT74 (G58D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1986849	NM_025103.4(IFT74):c.181C>T (p.Leu61=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 2182291	NM_025103.4(IFT74):c.201T>G (p.Val67=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 1503154	NM_025103.4(IFT74):c.251C>T (p.Thr84Met)	IFT74 (T84M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 720134	NM_025103.4(IFT74):c.252G>A (p.Thr84=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 1265179	NM_025103.4(IFT74):c.254A>G (p.Lys85Arg)	IFT74 (K85R)	Single nucleotide variant (missense variant)	IFT74-related condition +2 more	GBenign
Select item 2414213	NM_025103.4(IFT74):c.256+1G>C	IFT74	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 768287	NM_025103.4(IFT74):c.257-3T>C	IFT74	Single nucleotide variant (intron variant)	IFT74-related condition +1 more	GBenign
Select item 1636603	NM_025103.4(IFT74):c.303T>A (p.Leu101=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GBenign/Likely benign
Select item 1448842	NM_025103.4(IFT74):c.304A>C (p.Arg102=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1627232	NM_025103.4(IFT74):c.306-5A>G	IFT74	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2072598	NM_025103.4(IFT74):c.326C>A (p.Thr109Lys)	IFT74 (T109K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1510435	NM_025103.4(IFT74):c.354A>T (p.Gly118=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 2974672	NM_025103.4(IFT74):c.393A>G (p.Ser131=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 773781	NM_025103.4(IFT74):c.405-3C>T	IFT74	Single nucleotide variant (intron variant)	IFT74-related condition +1 more	GBenign
Select item 2199855	NM_025103.4(IFT74):c.480T>G (p.Leu160=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 1641197	NM_025103.4(IFT74):c.648T>C (p.Asp216=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 1558040	NM_025103.4(IFT74):c.665T>C (p.Met222Thr)	IFT74 (M222T)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GLikely benign
Select item 2017972	NM_025103.4(IFT74):c.679C>G (p.Gln227Glu)	IFT74 (Q227E)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 1925527	NM_025103.4(IFT74):c.726+9A>G	IFT74	Single nucleotide variant (intron variant)	IFT74-related condition +1 more	GLikely benign
Select item 3042213	NM_025103.4(IFT74):c.727-10_727-9del	IFT74	Deletion (intron variant)	IFT74-related condition	GLikely benign
Select item 1594324	NM_025103.4(IFT74):c.727G>C (p.Glu243Gln)	IFT74 (E243Q)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GBenign/Likely benign
Select item 1370227	NM_025103.4(IFT74):c.740T>A (p.Leu247His)	IFT74 (L247H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1435057	NM_025103.4(IFT74):c.748C>G (p.Gln250Glu)	IFT74 (Q250E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428285	NM_025103.4(IFT74):c.751T>C (p.Leu251=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 1906485	NM_025103.4(IFT74):c.807G>A (p.Gln269=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 1380253	NM_025103.4(IFT74):c.863G>A (p.Arg288Gln)	IFT74 (R288Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2634194	NM_025103.4(IFT74):c.880G>A (p.Glu294Lys)	IFT74 (E294K)	Single nucleotide variant (missense variant)	IFT74-related condition	GUncertain significance
Select item 1401716	NM_025103.4(IFT74):c.902C>T (p.Pro301Leu)	IFT74 (P301L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 3043932	NM_025103.4(IFT74):c.904A>G (p.Met302Val)	IFT74 (M302V)	Single nucleotide variant (missense variant)	IFT74-related condition	GUncertain significance
Select item 3061626	NM_025103.4(IFT74):c.950A>G (p.Gln317Arg)	IFT74 (Q317R)	Single nucleotide variant (missense variant)	IFT74-related condition	GUncertain significance
Select item 1299797	NM_025103.4(IFT74):c.968A>G (p.Glu323Gly)	IFT74 (E323G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1898523	NM_025103.4(IFT74):c.980C>A (p.Thr327Lys)	IFT74 (T327K)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 1454954	NM_025103.4(IFT74):c.1024C>T (p.Gln342Ter)	IFT74 (Q342*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2416752	NM_025103.4(IFT74):c.1032C>T (p.Asp344=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 776416	NM_025103.4(IFT74):c.1054+3A>T	IFT74	Single nucleotide variant (intron variant)	IFT74-related condition +1 more	GBenign
Select item 3060791	NM_025103.4(IFT74):c.1054+7371A>G	IFT74 (I360M)	Single nucleotide variant (missense variant +1 more)	IFT74-related condition	GBenign
Select item 3058441	NM_025103.4(IFT74):c.1054+7400A>C	IFT74 (K370T)	Single nucleotide variant (missense variant +1 more)	IFT74-related condition	GUncertain significance
Select item 3034846	NM_025103.4(IFT74):c.1054+7415G>C	IFT74	Single nucleotide variant (3 prime UTR variant +1 more)	IFT74-related condition	GLikely benign
Select item 1602834	NM_025103.4(IFT74):c.1055-9C>T	IFT74	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2628497	NM_025103.4(IFT74):c.1153C>G (p.Arg385Gly)	IFT74 (R385G)	Single nucleotide variant (missense variant)	IFT74-related condition	GUncertain significance
Select item 3056404	NM_025103.4(IFT74):c.1158G>A (p.Lys386=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition	GLikely benign
Select item 1950521	NM_025103.4(IFT74):c.1194G>T (p.Glu398Asp)	IFT74 (E398D)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 3029249	NM_025103.4(IFT74):c.1227G>A (p.Gln409=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition	GLikely benign
Select item 2086390	NM_025103.4(IFT74):c.1235C>G (p.Ser412Cys)	IFT74 (S412C)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 1673992	NM_025103.4(IFT74):c.1242C>A (p.Thr414=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 739332	NM_025103.4(IFT74):c.1276A>G (p.Asn426Asp)	IFT74 (N426D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2170750	NM_025103.4(IFT74):c.1343G>A (p.Arg448His)	IFT74 (R448H)	Single nucleotide variant (missense variant)	IFT74-related condition +4 more	GUncertain significance
Select item 2193926	NM_025103.4(IFT74):c.1390A>G (p.Thr464Ala)	IFT74 (T464A)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 1336246	NM_025103.4(IFT74):c.1398A>C (p.Glu466Asp)	IFT74 (E466D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2891029	NM_025103.4(IFT74):c.1407T>C (p.Ser469=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 2144892	NM_025103.4(IFT74):c.1463C>T (p.Pro488Leu)	IFT74 (P488L)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GLikely benign
Select item 2628984	NM_025103.4(IFT74):c.1497G>C (p.Lys499Asn)	IFT74 (K499N)	Single nucleotide variant (missense variant)	IFT74-related condition	GUncertain significance
Select item 2041407	NM_025103.4(IFT74):c.1497+3A>G	IFT74	Single nucleotide variant (intron variant)	IFT74-related condition +1 more	GLikely benign
Select item 813564	NM_025103.4(IFT74):c.1525_1527del (p.Ser509del)	IFT74 (S509del)	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1572720	NM_025103.4(IFT74):c.1542C>T (p.Ala514=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GBenign
Select item 1444360	NM_025103.4(IFT74):c.1573G>A (p.Glu525Lys)	IFT74 (E525K)	Single nucleotide variant (missense variant)	IFT74-related condition +2 more	GUncertain significance
Select item 2169283	NM_025103.4(IFT74):c.1576T>C (p.Tyr526His)	IFT74 (Y526H)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 2045847	NM_025103.4(IFT74):c.1581G>A (p.Glu527=)	IFT74	Single nucleotide variant (synonymous variant)	IFT74-related condition +1 more	GLikely benign
Select item 722655	NM_025103.4(IFT74):c.1623+7A>C	IFT74	Single nucleotide variant (intron variant)	IFT74-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1378612	NM_025103.4(IFT74):c.1643A>G (p.Lys548Arg)	IFT74 (K548R)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 1573151	NM_025103.4(IFT74):c.1651C>T (p.His551Tyr)	IFT74 (H551Y)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GLikely benign
Select item 2044825	NM_025103.4(IFT74):c.1673C>T (p.Ala558Val)	IFT74 (A558V)	Single nucleotide variant (missense variant)	IFT74-related condition +1 more	GUncertain significance
Select item 3059945	NM_025103.4(IFT74):c.1685-617C>G	IFT74	Single nucleotide variant (3 prime UTR variant +1 more)	IFT74-related condition	GLikely benign
Select item 254276	NM_025103.4(IFT74):c.1685-1G>T	IFT74	Single nucleotide variant (3 prime UTR variant +1 more)	IFT74-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1486475	NM_025103.4(IFT74):c.1700G>T (p.Ser567Ile)	IFT74 (S567I)	Single nucleotide variant (missense variant +1 more)	IFT74-related condition +1 more	GUncertain significance
Select item 2191230	NM_025103.4(IFT74):c.1770C>T (p.Ile590=)	IFT74	Single nucleotide variant (synonymous variant +1 more)	IFT74-related condition +1 more	GLikely benign
Select item 3039450	NM_025103.4(IFT74):c.1791C>T (p.Thr597=)	IFT74	Single nucleotide variant (synonymous variant +1 more)	IFT74-related condition	GLikely benign
Select item 1594050	NM_025103.4(IFT74):c.1794C>T (p.Ser598=)	IFT74	Single nucleotide variant (synonymous variant +1 more)	IFT74-related condition +1 more	GLikely benign

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Items: 77