ClinVar for MedGen (Select 481437) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1674046	NM_001102564.3(IFT43):c.445-15T>C	IFT43	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1643670	NM_001102564.3(IFT43):c.368+17A>T	IFT43	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1510551	NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys)	IFT43 (R12C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1491570	NM_001102564.3(IFT43):c.444+5G>A	IFT43	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1486763	NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe)	IFT43 (L11F)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 1481131	NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys)	IFT43 (E108K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1391766	NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln)	IFT43 (R59Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1370800	NM_001102564.3(IFT43):c.485C>T (p.Ala162Val)	IFT43 (A162V +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 1370314	NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp)	IFT43 (R168W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1347419	NM_001102564.3(IFT43):c.587C>T (p.Thr196Met)	IFT43 (T201M +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 1165682	NM_001102564.3(IFT43):c.55-17T>C	IFT43	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GBenign
Select item 1164163	NM_001102564.3(IFT43):c.54+15G>T	IFT43	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GBenign
Select item 1133893	NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)	IFT43 (R128Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 1105545	NM_001102564.3(IFT43):c.369-18G>A	IFT43	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GLikely benign
Select item 1089443	NM_001102564.3(IFT43):c.201C>T (p.Ser67=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1024679	NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser)	IFT43 (G173S +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 1022483	NM_001102564.3(IFT43):c.605C>T (p.Ala202Val)	IFT43 (A202V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1021274	NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile)	IFT43 (L157I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GUncertain significance
Select item 1005665	NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu)	IFT43 (F180L +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 998678	NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser)	IFT43 (P121S +1 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GUncertain significance
Select item 954312	NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro)	IFT43 (A31P)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 932675	NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp)	IFT43 (E166D +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 864378	NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu)	IFT43 (D153E +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 857944	NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter)	IFT43 (Q195* +1 more)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 3 +3 more	GUncertain significance
Select item 850608	NM_001102564.3(IFT43):c.398G>A (p.Arg133His)	IFT43 (R133H +1 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +4 more	GUncertain significance
Select item 849336	NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)	IFT43 (Y132F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 836397	NM_001102564.3(IFT43):c.296-5681A>G	IFT43 (K78R)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +4 more	GUncertain significance
Select item 807149	NM_001102564.3(IFT43):c.16G>C (p.Asp6His)	IFT43 (D6H)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +5 more	GUncertain significance
Select item 773557	NM_001102564.3(IFT43):c.570G>A (p.Glu190=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 745875	NM_001102564.3(IFT43):c.369-8del	IFT43	Deletion (intron variant)	IFT43-related disorder +4 more	GBenign/Likely benign
Select item 732799	NM_001102564.3(IFT43):c.486G>A (p.Ala162=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GBenign
Select item 727845	NM_001102564.3(IFT43):c.516C>T (p.Val172=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GLikely benign
Select item 725757	NM_001102564.3(IFT43):c.147+18dup	IFT43	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 716571	NM_001102564.3(IFT43):c.501C>A (p.Val167=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GLikely benign
Select item 708954	NM_001102564.3(IFT43):c.195T>A (p.Gly65=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GLikely benign
Select item 631717	NM_001102564.3(IFT43):c.214_215+2del	IFT43	Deletion (splice donor variant)	Cranioectodermal dysplasia 3	GUncertain significance
Select item 314468	NM_001102564.3(IFT43):c.136C>T (p.Leu46=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 314467	NM_001102564.3(IFT43):c.92C>T (p.Ala31Val)	IFT43 (A31V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 31098	NM_001102564.3(IFT43):c.1A>G (p.Met1Val)	IFT43 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic

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Items: 39