"GeneDx"[submitter] AND "IFT74"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1295135	NM_025103.4(IFT74):c.-19-111C>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260983	NM_025103.4(IFT74):c.120+85C>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267150	NM_025103.4(IFT74):c.120+320C>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256755	NM_025103.4(IFT74):c.121-324A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247882	NM_025103.4(IFT74):c.165A>G (p.Ile55Met)	IFT74 (I55M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1265179	NM_025103.4(IFT74):c.254A>G (p.Lys85Arg)	IFT74 (K85R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1228785	NM_025103.4(IFT74):c.256+289T>C	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273472	NM_025103.4(IFT74):c.257-156A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284007	NM_025103.4(IFT74):c.305+262C>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233528	NM_025103.4(IFT74):c.465+186A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277414	NM_025103.4(IFT74):c.466-96A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221353	NM_025103.4(IFT74):c.525+57G>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278857	NM_025103.4(IFT74):c.670T>C (p.Phe224Leu)	IFT74 (F224L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1295152	NM_025103.4(IFT74):c.726+83C>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288156	NM_025103.4(IFT74):c.726+149C>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270862	NM_025103.4(IFT74):c.726+188C>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246528	NM_025103.4(IFT74):c.727-244_727-243del	IFT74	Deletion (intron variant)	not provided	GBenign
Select item 1223037	NM_025103.4(IFT74):c.727-243del	IFT74	Deletion (intron variant)	not provided	GBenign
Select item 1290118	NM_025103.4(IFT74):c.790-255C>G	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231581	NM_025103.4(IFT74):c.934-270C>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178383	NM_025103.4(IFT74):c.975-76A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238186	NM_025103.4(IFT74):c.1055-176A>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280019	NM_025103.4(IFT74):c.1055-153G>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286435	NM_025103.4(IFT74):c.1109-266G>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259951	NM_025103.4(IFT74):c.1109-31A>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264939	NM_025103.4(IFT74):c.1109-26T>C	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507326	NM_025103.4(IFT74):c.1206+4A>G	IFT74	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1245964	NM_025103.4(IFT74):c.1206+91T>C	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246690	NM_025103.4(IFT74):c.1333+39A>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262768	NM_025103.4(IFT74):c.1333+259T>A	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295111	NM_025103.4(IFT74):c.1334-41A>T	IFT74	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246135	NM_025103.4(IFT74):c.1790C>T (p.Thr597Ile)	IFT74 (T597I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 36