"Illumina Laboratory Services, Illumina"[submitter] AND "MIP"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309861	NM_012064.4(MIP):c.*1777dup	MIP	Duplication (3 prime UTR variant)	Cataract	GUncertain significance
Select item 880560	NM_012064.4(MIP):c.*1495T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309862	NM_012064.4(MIP):c.*1373A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 880561	NM_012064.4(MIP):c.*1262C>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309864	NM_012064.4(MIP):c.1237_1238dup	MIP	Duplication (3 prime UTR variant)	Cataract	GUncertain significance
Select item 309863	NM_012064.4(MIP):c.*1238dup	MIP	Duplication (3 prime UTR variant)	Cataract	GBenign
Select item 309865	NM_012064.4(MIP):c.*1201ATT[2]	MIP	Microsatellite (3 prime UTR variant)	Cataract	GLikely benign
Select item 309866	NM_012064.4(MIP):c.*1171C>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 880562	NM_012064.4(MIP):c.*1104T>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309867	NM_012064.4(MIP):c.*1103C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 880563	NM_012064.4(MIP):c.*969G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 880564	NM_012064.4(MIP):c.*957G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 881982	NM_012064.4(MIP):c.*955G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309868	NM_012064.4(MIP):c.*799A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 881983	NM_012064.4(MIP):c.*793C>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309869	NM_012064.4(MIP):c.*774G>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GLikely benign
Select item 309870	NM_012064.4(MIP):c.762_763del	MIP	Deletion (3 prime UTR variant)	Cataract	GBenign
Select item 309871	NM_012064.4(MIP):c.*715G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309872	NM_012064.4(MIP):c.*674G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 881984	NM_012064.4(MIP):c.*661C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309873	NM_012064.4(MIP):c.*615A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309874	NM_012064.4(MIP):c.*601G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 883145	NM_012064.4(MIP):c.*542C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309875	NM_012064.4(MIP):c.*505T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309876	NM_012064.4(MIP):c.*491A>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309877	NM_012064.4(MIP):c.*407A>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 309878	NM_012064.4(MIP):c.*342C>T	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309879	NM_012064.4(MIP):c.*284T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types +1 more	GLikely benign
Select item 309881	NM_012064.4(MIP):c.*148dup	MIP	Duplication (3 prime UTR variant)	Cataract +1 more	GConflicting classifications of pathogenicity
Select item 309880	NM_012064.4(MIP):c.*148del	MIP	Deletion (3 prime UTR variant)	Cataract +1 more	GBenign
Select item 883921	NM_012064.4(MIP):c.*136T>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GUncertain significance
Select item 309882	NM_012064.4(MIP):c.*132del	MIP	Deletion (3 prime UTR variant)	Cataract	GUncertain significance
Select item 309883	NM_012064.4(MIP):c.*94T>G	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types +1 more	GBenign
Select item 883922	NM_012064.4(MIP):c.*49G>A	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GLikely benign
Select item 883923	NM_012064.4(MIP):c.*32T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types	GBenign
Select item 474239	NM_012064.4(MIP):c.516C>T (p.His172=)	MIP	Single nucleotide variant (synonymous variant)	Cataract 15 multiple types	GBenign
Select item 309884	NM_012064.4(MIP):c.493G>A (p.Gly165Ser)	MIP (G165S)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GUncertain significance
Select item 883924	NM_012064.4(MIP):c.490G>A (p.Val164Ile)	MIP (V164I)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GLikely benign
Select item 880642	NM_012064.4(MIP):c.424G>A (p.Val142Met)	MIP (V142M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 309885	NM_012064.4(MIP):c.378C>T (p.Ser126=)	MIP	Single nucleotide variant (synonymous variant)	Cataract 15 multiple types	GBenign/Likely benign
Select item 309886	NM_012064.4(MIP):c.361-10C>T	MIP	Single nucleotide variant (intron variant)	Cataract 15 multiple types	GUncertain significance
Select item 260169	NM_012064.4(MIP):c.319G>A (p.Val107Ile)	MIP (V107I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 702547	NM_012064.4(MIP):c.199G>A (p.Val67Ile)	MIP (V67I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309887	NM_012064.4(MIP):c.98G>A (p.Arg33His)	MIP (R33H)	Single nucleotide variant (missense variant)	Cataract 15 multiple types	GLikely benign
Select item 309888	NM_012064.4(MIP):c.-4T>C	MIP	Single nucleotide variant (5 prime UTR variant)	Cataract 15 multiple types	GLikely benign
Select item 309889	NM_012064.4(MIP):c.-10C>A	MIP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 882055	NM_012064.4(MIP):c.-26C>A	MIP	Single nucleotide variant (5 prime UTR variant)	Cataract 15 multiple types	GUncertain significance

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Items: 47