ClinVar for Gene (Select 112752) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285430	NM_001102564.3(IFT43):c.523G>T (p.Asp175Tyr)	IFT43 (D180Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285429	NM_001102564.3(IFT43):c.313G>T (p.Asp105Tyr)	IFT43 (D110Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3244033	NC_000014.8:g.(?_76349008)_(76967064_?)dup	ESRRB, GPATCH2L +3 more	Duplication	Rienhoff syndrome	GUncertain significance
Select item 3052484	NM_001102564.3(IFT43):c.254G>A (p.Arg85His)	IFT43 (R85H)	Single nucleotide variant (missense variant +2 more)	IFT43-related disorder	GBenign
Select item 3045783	NM_001102564.3(IFT43):c.271C>G (p.Leu91Val)	IFT43 (L91V)	Single nucleotide variant (missense variant +2 more)	IFT43-related disorder	GLikely benign
Select item 3012352	NM_001102564.3(IFT43):c.15C>T (p.Leu5=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011045	NM_001102564.3(IFT43):c.162A>G (p.Lys54=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999696	NM_001102564.3(IFT43):c.296-5699G>T	IFT43	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2985974	NM_001102564.3(IFT43):c.55-4A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983760	NM_001102564.3(IFT43):c.537G>A (p.Leu179=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980467	NM_001102564.3(IFT43):c.483C>A (p.Leu161=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972518	NM_001102564.3(IFT43):c.368+19G>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958638	NM_001102564.3(IFT43):c.369-11C>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957966	NM_001102564.3(IFT43):c.215+9C>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911946	NM_001102564.3(IFT43):c.296-5707C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879460	NM_001102564.3(IFT43):c.296-5584T>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876916	NM_001102564.3(IFT43):c.202G>A (p.Val68Met)	IFT43 (V68M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873832	NM_001102564.3(IFT43):c.445-14del	IFT43	Deletion (intron variant)	not provided	GLikely benign
Select item 2851448	NM_001102564.3(IFT43):c.296-5707C>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836177	NM_001102564.3(IFT43):c.296-5671G>A	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2829572	NM_001102564.3(IFT43):c.296-5613del	IFT43 (E101fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2825097	NM_001102564.3(IFT43):c.507+16dup	IFT43	Duplication (intron variant)	not provided	GLikely benign
Select item 2809946	NM_001102564.3(IFT43):c.296-5680A>G	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802456	NM_001102564.3(IFT43):c.147+7G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800472	NM_001102564.3(IFT43):c.174C>T (p.Cys58=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786138	NM_001102564.3(IFT43):c.296-5626G>A	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781685	NM_001102564.3(IFT43):c.54+16G>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781280	NM_001102564.3(IFT43):c.449G>A (p.Gly150Glu)	IFT43 (G155E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2773224	NM_001102564.3(IFT43):c.54+19G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705806	NM_001102564.3(IFT43):c.296-5718G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695696	NM_001102564.3(IFT43):c.180G>A (p.Gln60=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2695673	NM_001102564.3(IFT43):c.296-1G>C	IFT43	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2694198	NM_001102564.3(IFT43):c.215+12C>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644376	NM_001102564.3(IFT43):c.253C>T (p.Arg85Cys)	IFT43 (R85C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2427155	NC_000014.8:g.(?_76542999)_(76544540_?)del	IFT43	Deletion	not provided	GLikely pathogenic
Select item 2427154	NC_000014.8:g.(?_76429639)_(76455340_?)dup	IFT43, TGFB3	Duplication	not provided	GUncertain significance
Select item 2427153	NC_000014.8:g.(?_76420747)_(76455340_?)del	IFT43, TGFB3 +1 more	Deletion	not provided	GPathogenic
Select item 2413811	NM_001102564.3(IFT43):c.184G>T (p.Gly62Cys)	IFT43 (G62C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2306421	NM_001102564.3(IFT43):c.305T>C (p.Ile102Thr)	IFT43 (I107T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256224	NM_001102564.3(IFT43):c.533A>G (p.His178Arg)	IFT43 (H178R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2190373	NM_001102564.3(IFT43):c.457G>A (p.Asp153Asn)	IFT43 (D158N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166533	NM_001102564.3(IFT43):c.503G>A (p.Arg168Gln)	IFT43 (R168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135504	NM_001102564.3(IFT43):c.136_137del (p.Leu46fs)	IFT43 (L46fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2132706	NM_001102564.3(IFT43):c.22G>T (p.Asp8Tyr)	IFT43 (D8Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2127277	NM_001102564.3(IFT43):c.112A>G (p.Asn38Asp)	IFT43 (N38D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125247	NM_001102564.3(IFT43):c.444+13G>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121397	NM_001102564.3(IFT43):c.19T>A (p.Leu7Met)	IFT43 (L7M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121353	NM_001102564.3(IFT43):c.459C>T (p.Asp153=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2109768	NM_001102564.3(IFT43):c.507+12G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105047	NM_001102564.3(IFT43):c.315T>A (p.Asp105Glu)	IFT43 (D110E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103037	NM_001102564.3(IFT43):c.349C>A (p.Gln117Lys)	IFT43 (Q117K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086913	NM_001102564.3(IFT43):c.508-6T>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083190	NM_001102564.3(IFT43):c.579A>G (p.Pro193=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2081019	NM_001102564.3(IFT43):c.444G>A (p.Leu148=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2079123	NM_001102564.3(IFT43):c.296-1G>T	IFT43	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2070174	NM_001102564.3(IFT43):c.54+2T>A	IFT43	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2061215	NM_001102564.3(IFT43):c.523G>C (p.Asp175His)	IFT43 (D175H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2057100	NM_001102564.3(IFT43):c.507+15G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030636	NM_001102564.3(IFT43):c.296-5591C>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027191	NM_001102564.3(IFT43):c.296-5712A>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021320	NM_001102564.3(IFT43):c.444+19G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015140	NM_001102564.3(IFT43):c.526T>C (p.Trp176Arg)	IFT43 (W176R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2001980	NM_001102564.3(IFT43):c.125C>T (p.Ser42Phe)	IFT43 (S42F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1997154	NM_001102564.3(IFT43):c.348G>A (p.Leu116=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1995872	NM_001102564.3(IFT43):c.600C>T (p.Asp200=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1994409	NM_001102564.3(IFT43):c.93G>C (p.Ala31=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1973324	NM_001102564.3(IFT43):c.444+14C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969468	NM_001102564.3(IFT43):c.606G>A (p.Ala202=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1964917	NM_001102564.3(IFT43):c.30G>T (p.Glu10Asp)	IFT43 (E10D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962329	NM_001102564.3(IFT43):c.170G>T (p.Arg57Leu)	IFT43 (R57L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1960272	NM_001102564.3(IFT43):c.296-5608G>A	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1957018	NM_001102564.3(IFT43):c.36C>T (p.Arg12=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1954624	NM_001102564.3(IFT43):c.296-5686_296-5685del	IFT43 (G77fs)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1953782	NM_001102564.3(IFT43):c.296-18C>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952763	NM_001102564.3(IFT43):c.296-5683C>A	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1950260	NM_001102564.3(IFT43):c.508-18C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946149	NM_001102564.3(IFT43):c.215+18A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945112	NM_001102564.3(IFT43):c.215+20A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944265	NM_001102564.3(IFT43):c.16G>T (p.Asp6Tyr)	IFT43 (D6Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943521	NM_001102564.3(IFT43):c.296-6T>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941104	NM_001102564.3(IFT43):c.445-18T>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933403	NM_001102564.3(IFT43):c.484G>A (p.Ala162Thr)	IFT43 (A162T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1929657	NM_001102564.3(IFT43):c.507+16C>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923321	NM_001102564.3(IFT43):c.341_342del (p.Phe114fs)	IFT43 (F119fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1911375	NM_001102564.3(IFT43):c.514G>A (p.Val172Ile)	IFT43 (V172I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910711	NM_001102564.3(IFT43):c.296-3C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1910350	NM_001102564.3(IFT43):c.369-15C>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908518	NM_001102564.3(IFT43):c.214A>C (p.Lys72Gln)	IFT43 (N72H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902898	NM_001102564.3(IFT43):c.368+17A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902732	NM_001102564.3(IFT43):c.588G>A (p.Thr196=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900384	NM_001102564.3(IFT43):c.296-5644G>A	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1717372	NM_001102564.3(IFT43):c.208G>C (p.Ala70Pro)	IFT43 (A70P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1714089	NM_001102564.3(IFT43):c.296-5693C>T	IFT43 (T74I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1707309	NM_001102564.3(IFT43):c.364C>T (p.Pro122Ser)	IFT43 (P122S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674737	NM_001102564.3(IFT43):c.618G>A (p.Arg206=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1674568	NM_001102564.3(IFT43):c.54+14C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign

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