"Illumina Laboratory Services, Illumina"[submitter] AND "LOC105371046" - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 884263	NM_014714.4(IFT140):c.1524+14C>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +1 more	GBenign/Likely benign
Select item 512128	NM_014714.4(IFT140):c.1524+3A>G	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 884264	NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)	IFT140, LOC105371046 (V494I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 886293	NM_014714.4(IFT140):c.1452G>A (p.Thr484=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 886294	NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys)	IFT140, LOC105371046 (E468K)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 886295	NM_014714.4(IFT140):c.1380C>T (p.Asn460=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318191	NM_014714.4(IFT140):c.1360-14G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318192	NM_014714.4(IFT140):c.1352C>T (p.Ala451Val)	IFT140, LOC105371046 (A451V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 193897	NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)	IFT140, LOC105371046 (I446V)	Single nucleotide variant (missense variant)	IFT140-related condition +3 more	GBenign/Likely benign
Select item 886296	NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)	IFT140, LOC105371046 (A437T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 886297	NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)	IFT140, LOC105371046 (V436F)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 887294	NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr)	IFT140, LOC105371046 (A419T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 318193	NM_014714.4(IFT140):c.1230G>A (p.Ser410=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 129257	NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)	IFT140, LOC105371046 (V398I)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GBenign
Select item 318194	NM_014714.4(IFT140):c.1155+15G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318195	NM_014714.4(IFT140):c.1083C>T (p.Pro361=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 80 +2 more	GBenign
Select item 887295	NM_014714.4(IFT140):c.1010-10C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	IFT140-related condition +1 more	GConflicting classifications of pathogenicity
Select item 318196	NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln)	IFT140, LOC105371046 (K336Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318197	NM_014714.4(IFT140):c.937C>G (p.Leu313Val)	IFT140, LOC105371046 (L313V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318198	NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)	IFT140, LOC105371046 (E309K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 450986	NM_014714.4(IFT140):c.903-5T>G	LOC105371046, IFT140	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome +2 more	GUncertain significance
Select item 318200	NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)	LOC105371046, IFT140 (S289R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 318199	NM_014714.4(IFT140):c.867C>T (p.Ser289=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 888542	NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)	IFT140, LOC105371046 (A284T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318201	NM_014714.4(IFT140):c.839G>A (p.Arg280Gln)	IFT140, LOC105371046 (R280Q)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GBenign
Select item 318202	NM_014714.4(IFT140):c.838C>T (p.Arg280Trp)	LOC105371046, IFT140 (R280W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 129262	NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)	IFT140, LOC105371046 (R279P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 318203	NM_014714.4(IFT140):c.810+9G>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318204	NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)	IFT140, LOC105371046 (P260S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 318205	NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)	IFT140, LOC105371046 (T258S)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 282935	NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)	LOC105371046, IFT140 (R253Q)	Single nucleotide variant (missense variant)	IFT140-related condition +3 more	GConflicting classifications of pathogenicity
Select item 318206	NM_014714.4(IFT140):c.754C>T (p.Leu252Phe)	IFT140, LOC105371046 (L252F)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 884329	NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)	IFT140, LOC105371046 (E243G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 80 +1 more	GConflicting classifications of pathogenicity
Select item 318207	NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)	IFT140, LOC105371046 (A229T)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 318208	NM_014714.4(IFT140):c.657G>A (p.Glu219=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318209	NM_014714.4(IFT140):c.635-12G>C	LOC105371046, IFT140	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 31683	NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	IFT140, LOC105371046 (G212R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +3 more	GPathogenic/Likely pathogenic
Select item 318210	NM_014714.4(IFT140):c.546C>T (p.Asp182=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	IFT140-related condition +2 more	GConflicting classifications of pathogenicity
Select item 318211	NM_014714.4(IFT140):c.492-14G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 318212	NM_014714.4(IFT140):c.491+7G>A	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GBenign/Likely benign
Select item 575615	NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)	IFT140, LOC105371046 (P161A)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318213	NM_014714.4(IFT140):c.459G>T (p.Thr153=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 318214	NM_014714.4(IFT140):c.422C>T (p.Thr141Met)	IFT140, LOC105371046 (T141M)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GUncertain significance
Select item 318215	NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)	IFT140, LOC105371046 (R137Q)	Single nucleotide variant (missense variant)	IFT140-related condition +2 more	GConflicting classifications of pathogenicity
Select item 886352	NM_014714.4(IFT140):c.369+12C>T	IFT140, LOC105371046	Single nucleotide variant (intron variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 465318	NM_014714.4(IFT140):c.322G>A (p.Val108Met)	LOC105371046, IFT140 (V108M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 318216	NM_014714.4(IFT140):c.298C>G (p.Leu100Val)	IFT140, LOC105371046 (L100V)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 318217	NM_014714.4(IFT140):c.181C>T (p.Pro61Ser)	IFT140, LOC105371046 (P61S)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318218	NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)	IFT140, LOC105371046 (C52R)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318219	NM_014714.4(IFT140):c.36G>A (p.Pro12=)	IFT140, LOC105371046	Single nucleotide variant (synonymous variant)	Saldino-Mainzer syndrome	GConflicting classifications of pathogenicity
Select item 318220	NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)	IFT140, LOC105371046 (Q8E)	Single nucleotide variant (missense variant)	Saldino-Mainzer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 318221	NM_014714.4(IFT140):c.-4C>T	IFT140, LOC105371046	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 318222	NM_014714.4(IFT140):c.-6T>A	IFT140, LOC105371046	Single nucleotide variant (5 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance
Select item 318223	NM_014714.4(IFT140):c.-17G>C	IFT140, LOC105371046	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa 80 +2 more	GBenign
Select item 887538	NM_014714.4(IFT140):c.-24C>G	IFT140, LOC105371046	Single nucleotide variant (5 prime UTR variant)	Saldino-Mainzer syndrome	GUncertain significance

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Items: 55