"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126806174"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 938752	NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp)	IFT172, LOC126806174 (R940W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +2 more	GUncertain significance
Select item 731206	NM_015662.3(IFT172):c.2796G>A (p.Glu932=)	IFT172, LOC126806174	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 1116775	NM_015662.3(IFT172):c.2787+20C>T	LOC126806174, IFT172	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 20 +2 more	GLikely benign
Select item 389686	NM_015662.3(IFT172):c.2787+6G>A	IFT172, LOC126806174	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 446697	NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)	IFT172, LOC126806174 (Y922*)	Duplication (nonsense)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GPathogenic/Likely pathogenic
Select item 972067	NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys)	IFT172, LOC126806174 (Y915C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 847729	NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)	IFT172, LOC126806174 (R908W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1062309	NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)	IFT172, LOC126806174 (A899T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 863878	NM_015662.3(IFT172):c.2681G>A (p.Arg894His)	IFT172, LOC126806174 (R894H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 838270	NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)	IFT172, LOC126806174 (A890T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 521057	NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)	IFT172, LOC126806174 (Q866R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GConflicting classifications of pathogenicity
Select item 1456416	NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)	IFT172, LOC126806174 (R846*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 20 +2 more	GPathogenic/Likely pathogenic
Select item 860905	NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)	IFT172, LOC126806174 (A841V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 71 +4 more	GUncertain significance