"Blueprint Genetics"[submitter] AND "LOC105371046"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 850163	NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)	IFT140, LOC105371046 (T496M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GUncertain significance
Select item 446314	NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)	IFT140, LOC105371046 (T484M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 866936	NM_014714.4(IFT140):c.1390G>T (p.Val464Leu)	IFT140, LOC105371046 (V464L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866079	NM_014714.4(IFT140):c.1359+1G>A	IFT140, LOC105371046	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 867198	NM_014714.4(IFT140):c.1250_1271dup (p.Ser425fs)	IFT140, LOC105371046 (S425fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866335	NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)	IFT140, LOC105371046 (A418P)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 318198	NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)	IFT140, LOC105371046 (E309K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 865908	NM_014714.4(IFT140):c.920G>A (p.Arg307Gln)	IFT140, LOC105371046 (R307Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 865910	NM_014714.4(IFT140):c.635-11T>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866080	NM_014714.4(IFT140):c.634+5G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 867028	NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)	IFT140, LOC105371046 (R137*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 865848	NM_014714.4(IFT140):c.217_218del (p.Arg73fs)	IFT140, LOC105371046 (R73fs)	Microsatellite (frameshift variant)	Saldino-Mainzer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 867197	NM_014714.4(IFT140):c.56C>T (p.Ser19Leu)	IFT140, LOC105371046 (S19L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 318220	NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)	IFT140, LOC105371046 (Q8E)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity