"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261905	NM_001379500.1(COL18A1):c.2728-8G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 261906	NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 447121	NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg)	COL18A1, SLC19A1 (G1108R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 518321	NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])	COL18A1, SLC19A1	Deletion (inframe_deletion +1 more)	Knobloch syndrome	GBenign/Likely benign
Select item 283501	NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His)	COL18A1, SLC19A1 (R1127H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 261907	NM_001379500.1(COL18A1):c.3087+9_3087+10del	COL18A1, SLC19A1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 261908	NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261909	NM_001379500.1(COL18A1):c.3250-15G>A	SLC19A1, COL18A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1036690	NM_001379500.1(COL18A1):c.3380G>A (p.Arg1127His)	COL18A1, SLC19A1 (R1127H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261910	NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Glaucoma, primary closed-angle +3 more	GBenign
Select item 1114794	NM_001379500.1(COL18A1):c.3480C>T (p.Arg1160=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 518322	NM_001379500.1(COL18A1):c.3495+14del	SLC19A1, COL18A1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1168719	NM_001379500.1(COL18A1):c.3495+14C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	Knobloch syndrome 1 +2 more	GBenign/Likely benign
Select item 65410	NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	COL18A1, SLC19A1 (L1352fs +2 more)	Deletion (frameshift variant)	Glaucoma, primary closed-angle +4 more	GPathogenic
Select item 261914	NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr)	COL18A1, SLC19A1 (A1381T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 522315	NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign
Select item 261915	NM_001379500.1(COL18A1):c.3694-20AC[4]	COL18A1, SLC19A1	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 17118	NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	COL18A1, SLC19A1 (D1437N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 261918	NM_001379500.1(COL18A1):c.3810-20C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 445580	NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu)	COL18A1, SLC19A1 (V1452L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 447130	NM_001379500.1(COL18A1):c.3837G>A (p.Ser1279=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 261884	NM_001379500.1(COL18A1):c.*16G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign

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Items: 22