"Illumina Laboratory Services, Illumina"[submitter] AND "ITGA4"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369320	NM_000885.6(ITGA4):c.*1134C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 332978	NM_201548.5(CERKL):c.1414_1417dup	CERKL, ITGA4	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 898731	NM_201548.5(CERKL):c.*1371C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332979	NM_201548.5(CERKL):c.*1345G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 895763	NM_201548.5(CERKL):c.*1324G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332980	NM_201548.5(CERKL):c.*1216G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895764	NM_201548.5(CERKL):c.*1212A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895765	NM_201548.5(CERKL):c.*1207C>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332981	NM_201548.5(CERKL):c.*1159C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332982	NM_201548.5(CERKL):c.*1058T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332983	NM_201548.5(CERKL):c.*1045G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332984	NM_201548.5(CERKL):c.*1044C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 896046	NM_201548.5(CERKL):c.*1023G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 896047	NM_201548.5(CERKL):c.*979C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332985	NM_201548.5(CERKL):c.*954C>A	ITGA4, CERKL	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332986	NM_201548.5(CERKL):c.*915C>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 332987	NM_201548.5(CERKL):c.*880G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332988	NM_201548.5(CERKL):c.*869C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332989	NM_201548.5(CERKL):c.*780T>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332990	NM_201548.5(CERKL):c.*743G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332991	NM_201548.5(CERKL):c.*694dup	CERKL, ITGA4	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 897632	NM_201548.5(CERKL):c.*573A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332992	NM_201548.5(CERKL):c.*567T>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332993	NM_201548.5(CERKL):c.*473del	CERKL, ITGA4	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 332994	NM_201548.5(CERKL):c.*472A>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 332995	NM_201548.5(CERKL):c.*452G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332996	NM_201548.5(CERKL):c.*420G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 897633	NM_201548.5(CERKL):c.*347A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332997	NM_201548.5(CERKL):c.*330C>T	ITGA4, CERKL	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898798	NM_201548.5(CERKL):c.*306C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332998	NM_201548.5(CERKL):c.*295G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332999	NM_000885.6(ITGA4):c.*2381C>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 898799	NM_201548.5(CERKL):c.*237G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898800	NM_201548.5(CERKL):c.*160T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 333001	NM_201548.5(CERKL):c.*121C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 333000	NM_201548.5(CERKL):c.*121delinsTGATTTTTCT	CERKL, ITGA4	Indel (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 333002	NM_201548.5(CERKL):c.*114A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 333003	NM_201548.5(CERKL):c.*92G>C	ITGA4, CERKL	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895833	NM_201548.5(CERKL):c.*77G>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895834	NM_201548.5(CERKL):c.*25G>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895835	NM_201548.5(CERKL):c.1596G>A (p.Lys532=)	CERKL, ITGA4	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 333004	NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr)	CERKL, ITGA4 (I406T +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 895836	NM_201548.5(CERKL):c.1548A>C (p.Pro516=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 895837	NM_201548.5(CERKL):c.1543C>T (p.His515Tyr)	CERKL, ITGA4 (H402Y +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 895838	NM_201548.5(CERKL):c.1539-5T>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2671616	Single allele	CERKL, ITGA4 +2 more	Deletion	not provided	GUncertain significance

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Items: 46