ClinVar for MedGen (Select 481437) - ClinVar

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Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16740461.	NM_001102564.3(IFT43):c.445-15T>C GRCh37: Chr14:76549555 GRCh38: Chr14:76083212	IFT43		Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16436702.	NM_001102564.3(IFT43):c.368+17A>T GRCh37: Chr14:76548727 GRCh38: Chr14:76082384	IFT43		Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, not provided	Likely benign (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15105513.	NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys) GRCh37: Chr14:76452163 GRCh38: Chr14:75985820	IFT43	R12C	not provided, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81	Uncertain significance (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14915704.	NM_001102564.3(IFT43):c.444+5G>A GRCh37: Chr14:76549040 GRCh38: Chr14:76082697	IFT43		Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14867635.	NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe) GRCh37: Chr14:76452160 GRCh38: Chr14:75985817	IFT43	L11F	not provided, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14811316.	NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys) GRCh37: Chr14:76548664 GRCh38: Chr14:76082321	IFT43	E108K, E113K	Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Uncertain significance (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13917667.	NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln) GRCh37: Chr14:76488698 GRCh38: Chr14:76022355	IFT43	R59Q	Retinitis pigmentosa 81, Short-rib thoracic dysplasia 18 with polydactyly, Cranioectodermal dysplasia 3, not provided	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13708008.	NM_001102564.3(IFT43):c.485C>T (p.Ala162Val) GRCh37: Chr14:76549610 GRCh38: Chr14:76083267	IFT43	A162V, A167V	not provided, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13703149.	NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp) GRCh37: Chr14:76549627 GRCh38: Chr14:76083284	IFT43	R168W, R173W	not provided, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134741910.	NM_001102564.3(IFT43):c.587C>T (p.Thr196Met) GRCh37: Chr14:76549880 GRCh38: Chr14:76083537	IFT43	T201M, T196M	Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116568211.	NM_001102564.3(IFT43):c.55-17T>C GRCh37: Chr14:76455211 GRCh38: Chr14:75988868	IFT43		not provided, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116416312.	NM_001102564.3(IFT43):c.54+15G>T GRCh37: Chr14:76452198 GRCh38: Chr14:75985855	IFT43		not provided, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113389313.	NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln) GRCh37: Chr14:76548974 GRCh38: Chr14:76082631	IFT43	R128Q, R133Q	Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, not provided	Likely benign (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110554514.	NM_001102564.3(IFT43):c.369-18G>A GRCh37: Chr14:76548942 GRCh38: Chr14:76082599	IFT43		Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108944315.	NM_001102564.3(IFT43):c.201C>T (p.Ser67=) GRCh37: Chr14:76488723 GRCh38: Chr14:76022380	IFT43		not provided, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Connective tissue disorder	Conflicting interpretations of pathogenicity (Jul 26, 2022)	criteria provided, conflicting interpretations
Select item 102467916.	NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser) GRCh37: Chr14:76549810 GRCh38: Chr14:76083467	IFT43	G173S, G178S	Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102248317.	NM_001102564.3(IFT43):c.605C>T (p.Ala202Val) GRCh37: Chr14:76549898 GRCh38: Chr14:76083555	IFT43	A202V, A207V	not provided, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102127418.	NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile) GRCh37: Chr14:76549594 GRCh38: Chr14:76083251	IFT43	L157I, L162I	not provided, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100566519.	NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu) GRCh37: Chr14:76549833 GRCh38: Chr14:76083490	IFT43	F180L, F185L	Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99867820.	NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser) GRCh37: Chr14:76548703 GRCh38: Chr14:76082360	IFT43	P121S, P126S	Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95431221.	NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro) GRCh37: Chr14:76455264 GRCh38: Chr14:75988921	IFT43	A31P	Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93267522.	NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp) GRCh37: Chr14:76549623 GRCh38: Chr14:76083280	IFT43	E166D, E171D	not provided, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86437823.	NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu) GRCh37: Chr14:76549584 GRCh38: Chr14:76083241	IFT43	D153E, D158E	Cranioectodermal dysplasia 3, Retinitis pigmentosa 81, Short-rib thoracic dysplasia 18 with polydactyly, not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85794424.	NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter) GRCh37: Chr14:76549876 GRCh38: Chr14:76083533	IFT43	Q195, Q200	Short-rib thoracic dysplasia 18 with polydactyly, Cranioectodermal dysplasia 3, Retinitis pigmentosa 81, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85060825.	NM_001102564.3(IFT43):c.398G>A (p.Arg133His) GRCh37: Chr14:76548989 GRCh38: Chr14:76082646	IFT43	R133H, R138H	Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Inborn genetic diseases, not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84933626.	NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe) GRCh37: Chr14:76548986 GRCh38: Chr14:76082643	IFT43	Y132F, Y137F	Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, not provided	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 83639727.	NM_001102564.3(IFT43):c.296-5681A>G GRCh37: Chr14:76542957 GRCh38: Chr14:76076614	IFT43	K78R	Inborn genetic diseases, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80714928.	NM_001102564.3(IFT43):c.16G>C (p.Asp6His) GRCh37: Chr14:76452145 GRCh38: Chr14:75985802	IFT43	D6H	not provided, Short-rib thoracic dysplasia 18 with polydactyly, Cranioectodermal dysplasia 3, Retinitis pigmentosa 81, Connective tissue disorder	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77355729.	NM_001102564.3(IFT43):c.570G>A (p.Glu190=) GRCh37: Chr14:76549863 GRCh38: Chr14:76083520	IFT43		not provided, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74587530.	NM_001102564.3(IFT43):c.369-8del GRCh37: Chr14:76548950 GRCh38: Chr14:76082607	IFT43		Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73279931.	NM_001102564.3(IFT43):c.486G>A (p.Ala162=) GRCh37: Chr14:76549611 GRCh38: Chr14:76083268	IFT43		not provided, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72784532.	NM_001102564.3(IFT43):c.516C>T (p.Val172=) GRCh37: Chr14:76549809 GRCh38: Chr14:76083466	IFT43		Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72575733.	NM_001102564.3(IFT43):c.147+18dup GRCh37: Chr14:76455329-76455330 GRCh38: Chr14:75988986-75988987	IFT43		Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, not provided	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71657134.	NM_001102564.3(IFT43):c.501C>A (p.Val167=) GRCh37: Chr14:76549626 GRCh38: Chr14:76083283	IFT43		Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, not provided	Likely benign (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70895435.	NM_001102564.3(IFT43):c.195T>A (p.Gly65=) GRCh37: Chr14:76488717 GRCh38: Chr14:76022374	IFT43		not provided, Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63171736.	NM_001102564.3(IFT43):c.214_215+2del GRCh37: Chr14:76488736-76488739 GRCh38: Chr14:76022393-76022396	IFT43		Cranioectodermal dysplasia 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 31446837.	NM_001102564.3(IFT43):c.136C>T (p.Leu46=) GRCh37: Chr14:76455309 GRCh38: Chr14:75988966	IFT43		Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly, not provided	Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31446738.	NM_001102564.3(IFT43):c.92C>T (p.Ala31Val) GRCh37: Chr14:76455265 GRCh38: Chr14:75988922	IFT43	A31V	not provided, Retinitis pigmentosa 81, Cranioectodermal dysplasia 3, Short-rib thoracic dysplasia 18 with polydactyly	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3109839.	NM_001102564.3(IFT43):c.1A>G (p.Met1Val) GRCh37: Chr14:76452130 GRCh38: Chr14:75985787	IFT43	M1V	not provided	Pathogenic (May 20, 2022)	criteria provided, single submitter

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Items: 39