CN239307[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347970	NM_006017.3(PROM1):c.*84del	PROM1	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant +3 more	GLikely benign
Select item 95333	NM_006017.3(PROM1):c.2374-5dup	PROM1	Duplication (intron variant)	Retinitis Pigmentosa, Recessive +5 more	GBenign/Likely benign
Select item 347975	NM_006017.3(PROM1):c.2374-14dup	PROM1	Duplication (intron variant)	Cone-Rod Dystrophy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 348000	NM_006017.3(PROM1):c.785-11T>G	PROM1	Single nucleotide variant (intron variant)	Stargardt Disease, Dominant +3 more	GUncertain significance
Select item 348013	NM_006017.3(PROM1):c.-37C>T	PROM1	Single nucleotide variant (5 prime UTR variant)	Stargardt Disease, Dominant +3 more	GUncertain significance
Select item 358120	NM_022726.3(ELOVL4):c.*1795T>A	ELOVL4	Single nucleotide variant	Stargardt Disease, Dominant	GBenign
Select item 358123	NM_022726.4(ELOVL4):c.1549_1553del	ELOVL4	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant	GUncertain significance
Select item 358131	NM_022726.4(ELOVL4):c.794_795del	ELOVL4	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant	GBenign
Select item 358139	NM_022726.4(ELOVL4):c.238_242del	ELOVL4	Deletion (3 prime UTR variant)	Stargardt Disease, Dominant	GLikely benign
Select item 358163	NM_022726.3(ELOVL4):c.-292G>T	ELOVL4	Single nucleotide variant	Stargardt Disease, Dominant	GUncertain significance
Select item 358164	NM_022726.3(ELOVL4):c.-301A>C	ELOVL4	Single nucleotide variant	Stargardt Disease, Dominant	GUncertain significance
Select item 358165	NM_022726.3(ELOVL4):c.-311C>G	ELOVL4	Single nucleotide variant	Stargardt Disease, Dominant	GUncertain significance
Select item 358166	NM_022726.3(ELOVL4):c.-317G>T	ELOVL4	Single nucleotide variant	Stargardt Disease, Dominant	GUncertain significance