"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COL18A1"[g - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652790	NM_001379500.1(COL18A1):c.-6del	BNAT1, COL18A1	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 1166528	NM_001379500.1(COL18A1):c.107-12541A>G	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1474381	NM_001379500.1(COL18A1):c.107-12198C>T	COL18A1 (R172C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 447131	NM_001379500.1(COL18A1):c.107-12197G>A	COL18A1 (R172H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 218803	NM_001379500.1(COL18A1):c.107-12195G>A	COL18A1 (G173S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1537761	NM_001379500.1(COL18A1):c.107-12193C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1169109	NM_001379500.1(COL18A1):c.107-12174G>A	COL18A1 (A180T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2652791	NM_001379500.1(COL18A1):c.107-11979G>A	COL18A1 (A245T)	Single nucleotide variant (missense variant +1 more)	COL18A1-related condition +1 more	GLikely benign
Select item 1176434	NM_001379500.1(COL18A1):c.107-11671G>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related condition +1 more	GLikely benign
Select item 2652792	NM_001379500.1(COL18A1):c.107-11608C>T	COL18A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652793	NM_001379500.1(COL18A1):c.107-11506G>C	COL18A1	Single nucleotide variant (synonymous variant +1 more)	COL18A1-related condition +1 more	GLikely benign
Select item 2652794	NM_001379500.1(COL18A1):c.107-11502G>A	COL18A1 (A404T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3026396	NM_001379500.1(COL18A1):c.107-11421G>T	COL18A1 (A431S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 898069	NM_001379500.1(COL18A1):c.496G>A (p.Ala166Thr)	COL18A1 (A346T +2 more)	Single nucleotide variant (missense variant)	COL18A1-related condition +2 more	GLikely benign
Select item 340207	NM_001379500.1(COL18A1):c.801C>T (p.Gly267=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1366287	NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs)	COL18A1 (P581fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1394102	NM_001379500.1(COL18A1):c.1248G>A (p.Pro416=)	COL18A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1432075	NM_001379500.1(COL18A1):c.1588C>T (p.Pro530Ser)	COL18A1 (P530S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1155321	NM_001379500.1(COL18A1):c.1851C>T (p.Ser617=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770010	NM_001379500.1(COL18A1):c.1905C>T (p.Pro635=)	COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GConflicting classifications of pathogenicity
Select item 623970	NM_001379500.1(COL18A1):c.2057G>A (p.Arg686Gln)	COL18A1 (R866Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623971	NM_001379500.1(COL18A1):c.2214C>T (p.Pro738=)	COL18A1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 340243	NM_001379500.1(COL18A1):c.2379+7C>T	COL18A1	Single nucleotide variant (intron variant)	Knobloch syndrome +1 more	GBenign/Likely benign
Select item 1004572	NM_001379500.1(COL18A1):c.2464G>C (p.Glu822Gln)	COL18A1 (E1002Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2652795	NM_001379500.1(COL18A1):c.2683+747_2683+765del	COL18A1, SLC19A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1643771	NM_001379500.1(COL18A1):c.2684-7C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 191317	NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter)	COL18A1, SLC19A1 (R1095* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 340260	NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +2 more	GLikely benign
Select item 1560756	NM_001379500.1(COL18A1):c.2869-8G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1013194	NM_001379500.1(COL18A1):c.2917C>T (p.Gln973Ter)	COL18A1, SLC19A1 (Q1150* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1125191	NM_001379500.1(COL18A1):c.2970A>C (p.Pro990=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 377047	NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr)	COL18A1, SLC19A1 (A1295T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1673327	NM_001379500.1(COL18A1):c.3402C>T (p.Tyr1134=)	SLC19A1, COL18A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809299	NM_001379500.1(COL18A1):c.3407G>A (p.Gly1136Glu)	COL18A1, SLC19A1 (G1548E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1601171	NM_001379500.1(COL18A1):c.3531C>T (p.Gly1177=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1628554	NM_001379500.1(COL18A1):c.3585C>T (p.Ala1195=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1593861	NM_001379500.1(COL18A1):c.3656G>A (p.Arg1219His)	COL18A1, SLC19A1 (R1219H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1619274	NM_001379500.1(COL18A1):c.3702G>A (p.Leu1234=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 809300	NM_001379500.1(COL18A1):c.3735C>T (p.Gly1245=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43