C1533041[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335913	NM_000104.4(CYP1B1):c.*2333G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335914	NM_000104.4(CYP1B1):c.*2314dup	CYP1B1	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335917	NM_000104.4(CYP1B1):c.*2151T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335928	NM_000104.4(CYP1B1):c.*1173del	CYP1B1	Deletion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335933	NM_000104.4(CYP1B1):c.*1027del	CYP1B1	Deletion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335934	NM_000104.4(CYP1B1):c.*1005C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335937	NM_000104.4(CYP1B1):c.*879del	CYP1B1	Deletion (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 335938	NM_000104.4(CYP1B1):c.*867dup	CYP1B1	Duplication (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 335945	NM_000104.4(CYP1B1):c.*210dup	CYP1B1	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +2 more	GBenign
Select item 335952	NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	CYP1B1 (R390C)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +5 more	GConflicting classifications of pathogenicity
Select item 632362	NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)	CYP1B1 (G329S)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +4 more	GConflicting classifications of pathogenicity
Select item 335954	NM_000104.4(CYP1B1):c.763C>T (p.Arg255Cys)	CYP1B1 (R255C)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335956	NM_000104.4(CYP1B1):c.-1-10C>T	CYP1B1	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335960	NM_000104.4(CYP1B1):c.-97dup	CYP1B1	Duplication (5 prime UTR variant)	not provided +2 more	GBenign
Select item 335961	NM_000104.4(CYP1B1):c.-197C>G	CYP1B1	Single nucleotide variant (5 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 335962	NM_000104.4(CYP1B1):c.-360G>C	CYP1B1, LOC110599580	Single nucleotide variant (5 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 314247	NM_000428.3(LTBP2):c.*1743C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 314249	NM_000428.3(LTBP2):c.1518_1520dup	LTBP2	Duplication (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 314264	NM_000428.3(LTBP2):c.*10dup	LTBP2	Duplication (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 314280	NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=)	LTBP2	Single nucleotide variant (synonymous variant)	Primary congenital glaucoma +1 more	GUncertain significance

ClinVar

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Items: 20