"Blueprint Genetics"[submitter] AND "IFT140"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 719195	NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)	IFT140	Microsatellite (inframe_insertion)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 866334	NM_014714.4(IFT140):c.4040+1G>A	IFT140	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 489108	NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)	IFT140 (C1313*)	Single nucleotide variant (nonsense)	Saldino-Mainzer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 866196	NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe)	IFT140 (S1256F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866750	NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val)	IFT140 (A1238V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866425	NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)	IFT140 (Q1194R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GUncertain significance
Select item 867006	NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)	IFT140, LOC126862260 (A973T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 867101	NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys)	IFT140, LOC126862260 (E966K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 533864	NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys)	IFT140, LOC126862260 (E933K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 863072	NM_014714.4(IFT140):c.2767_2768+2del	IFT140	Deletion (splice donor variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 865925	NM_014714.4(IFT140):c.2655del (p.Trp885fs)	IFT140 (W885fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 866487	NM_014714.4(IFT140):c.2607C>G (p.Cys869Trp)	IFT140 (C869W)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 31680	NM_014714.4(IFT140):c.2399+1G>T	IFT140	Single nucleotide variant (splice donor variant)	Autosomal dominant polycystic kidney disease +6 more	GPathogenic
Select item 867029	NM_014714.4(IFT140):c.2243A>G (p.His748Arg)	IFT140 (H748R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866550	NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)	IFT140 (V662I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +2 more	GConflicting classifications of pathogenicity
Select item 866705	NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs)	IFT140 (R621fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 766901	NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)	IFT140 (C525S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 97054	NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	IFT140 (G522E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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

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Items: 32