"GeneDx"[submitter] AND "IFT43"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 314462	NM_003239.5(TGFB3):c.-614C>T	IFT43, TGFB3	Single nucleotide variant (5 prime UTR variant)	Cranioectodermal dysplasia +2 more	GBenign/Likely benign
Select item 807149	NM_001102564.3(IFT43):c.16G>C (p.Asp6His)	IFT43 (D6H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	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 1216489	NM_001102564.3(IFT43):c.148-120C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292189	NM_001102564.3(IFT43):c.148-119A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189506	NM_001102564.3(IFT43):c.148-65A>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195138	NM_001102564.3(IFT43):c.215+134A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280189	NM_001102564.3(IFT43):c.215+215C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234630	NM_001102564.3(IFT43):c.216-192G>T	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217574	NM_001102564.3(IFT43):c.216-17T>G	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174900	NM_001102564.3(IFT43):c.216-4del	IFT43	Deletion (intron variant)	not provided	GBenign
Select item 1286076	NM_001102564.3(IFT43):c.249-155A>C	IFT43	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1221422	NM_001102564.3(IFT43):c.249-117A>G	IFT43	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1260378	NM_001102564.3(IFT43):c.296-5782A>G	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387708	NM_001102564.3(IFT43):c.296-5645C>T	IFT43 (T90M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 314470	NM_001102564.3(IFT43):c.296-5634G>A	IFT43 (D94N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 596041	NM_001102564.3(IFT43):c.296-5602T>C	IFT43	Single nucleotide variant (intron variant +1 more)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1240738	NM_001102564.3(IFT43):c.296-5363C>A	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217702	NM_001102564.3(IFT43):c.296-274G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1294034	NM_001102564.3(IFT43):c.368+29G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226545	NM_001102564.3(IFT43):c.368+76_368+81del	IFT43	Deletion (intron variant)	not provided	GBenign
Select item 1204476	NM_001102564.3(IFT43):c.369-107T>C	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1190966	NM_001102564.3(IFT43):c.444+56C>T	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266870	NM_001102564.3(IFT43):c.445-193G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224879	NM_001102564.3(IFT43):c.508-49G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204388	NM_001102564.3(IFT43):c.508-39G>A	IFT43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315238	NM_001102564.3(IFT43):c.531C>G (p.Asp177Glu)	IFT43 (D177E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1220037	NR_045664.2(IFT43):n.715G>A	IFT43	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign

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Items: 32