ClinVar for MedGen (Select 481437) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3576784	NM_001102564.3(IFT43):c.508-3C>T	IFT43	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576783	NM_001102564.3(IFT43):c.507+4C>G	IFT43	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576782	NM_001102564.3(IFT43):c.477del (p.Val160fs)	IFT43 (V165fs +1 more)	Deletion (frameshift variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GLikely pathogenic
Select item 3576781	NM_001102564.3(IFT43):c.368+1G>A	IFT43	Single nucleotide variant (splice donor variant)	Cranioectodermal dysplasia 3 +2 more	GLikely pathogenic
Select item 3576780	NM_001102564.3(IFT43):c.352G>A (p.Val118Met)	IFT43 (V123M +1 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576779	NM_001102564.3(IFT43):c.337G>C (p.Asp113His)	IFT43 (D113H +1 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576778	NM_001102564.3(IFT43):c.299T>C (p.Ile100Thr)	IFT43 (I105T +1 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576777	NM_001102564.3(IFT43):c.296-5654A>G	IFT43 (Y87C)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576776	NM_001102564.3(IFT43):c.296-5691_296-5687delinsAAAAA	IFT43	Indel (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576775	NM_001102564.3(IFT43):c.175C>T (p.Arg59Ter)	IFT43 (R59*)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 3 +2 more	GLikely pathogenic
Select item 3576774	NM_001102564.3(IFT43):c.164T>A (p.Leu55Ter)	IFT43 (L55*)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 3 +2 more	GLikely pathogenic
Select item 3576773	NM_001102564.3(IFT43):c.147+3G>A	IFT43	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576772	NM_001102564.3(IFT43):c.128C>G (p.Ser43Cys)	IFT43 (S43C)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576771	NM_001102564.3(IFT43):c.103A>G (p.Asn35Asp)	IFT43 (N35D)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576770	NM_001102564.3(IFT43):c.55del (p.Arg19fs)	IFT43 (R19fs)	Deletion (frameshift variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GLikely pathogenic
Select item 3576769	NM_001102564.3(IFT43):c.26A>G (p.Glu9Gly)	IFT43 (E9G)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 3576768	NM_001102564.3(IFT43):c.20T>A (p.Leu7Ter)	IFT43 (L7*)	Single nucleotide variant (nonsense +1 more)	Cranioectodermal dysplasia 3 +2 more	GLikely pathogenic
Select item 3576767	NM_001102564.3(IFT43):c.16G>A (p.Asp6Asn)	IFT43 (D6N)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +2 more	GUncertain significance
Select item 2958638	NM_001102564.3(IFT43):c.369-11C>A	IFT43	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 +3 more	GUncertain significance
Select item 1954624	NM_001102564.3(IFT43):c.296-5686_296-5685del	IFT43 (G77fs)	Deletion (frameshift variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GConflicting classifications of pathogenicity
Select item 1946149	NM_001102564.3(IFT43):c.215+18A>G	IFT43	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 3 +3 more	GLikely benign
Select item 1674046	NM_001102564.3(IFT43):c.445-15T>C	IFT43	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GLikely benign
Select item 1643670	NM_001102564.3(IFT43):c.368+17A>T	IFT43	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 3 +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)	Cranioectodermal dysplasia 3 +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)	not specified +4 more	GUncertain significance
Select item 1370658	NM_001102564.3(IFT43):c.592_594del (p.Lys198del)	IFT43 (K203del +1 more)	Deletion (inframe_deletion +1 more)	Cranioectodermal dysplasia 3 +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)	Cranioectodermal dysplasia 3 +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)	not provided +3 more	GUncertain significance
Select item 1328283	NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)	IFT43 (Q110* +1 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GPathogenic/Likely pathogenic
Select item 1165682	NM_001102564.3(IFT43):c.55-17T>C	IFT43	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1164163	NM_001102564.3(IFT43):c.54+15G>T	IFT43	Single nucleotide variant (intron variant)	not provided +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)	not provided +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 1047308	NM_001102564.3(IFT43):c.397C>T (p.Arg133Cys)	IFT43 (R138C +1 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +4 more	GUncertain significance
Select item 1035347	NM_001102564.3(IFT43):c.104A>G (p.Asn35Ser)	IFT43 (N35S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1024679	NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser)	IFT43 (G173S +1 more)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +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)	Short-rib thoracic dysplasia 18 with polydactyly +3 more	GUncertain significance
Select item 1021274	NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile)	IFT43 (L157I +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 18 with polydactyly +4 more	GUncertain significance
Select item 1016616	NM_001102564.3(IFT43):c.365C>T (p.Pro122Leu)	IFT43 (P122L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Cranioectodermal dysplasia 3 +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)	Cranioectodermal dysplasia 3 +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)	not provided +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)	not provided +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 857260	NM_001102564.3(IFT43):c.29A>G (p.Glu10Gly)	IFT43 (E10G)	Single nucleotide variant (missense variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GUncertain significance
Select item 852117	NM_001102564.3(IFT43):c.311C>T (p.Pro104Leu)	IFT43 (P104L +1 more)	Single nucleotide variant (missense variant +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)	Cranioectodermal dysplasia 3 +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)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 773557	NM_001102564.3(IFT43):c.570G>A (p.Glu190=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 3 +3 more	GLikely benign
Select item 749406	NM_001102564.3(IFT43):c.468C>T (p.Leu156=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 745875	NM_001102564.3(IFT43):c.369-8del	IFT43	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 732799	NM_001102564.3(IFT43):c.486G>A (p.Ala162=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Short-rib thoracic dysplasia 18 with polydactyly +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)	Cranioectodermal dysplasia 3 +3 more	GLikely benign
Select item 708954	NM_001102564.3(IFT43):c.195T>A (p.Gly65=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 631717	NM_001102564.3(IFT43):c.214_215+2del	IFT43	Deletion (splice donor variant)	Short-rib thoracic dysplasia 18 with polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 314468	NM_001102564.3(IFT43):c.136C>T (p.Leu46=)	IFT43	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 81 +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: 69