"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC19A1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 340254	NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu)	COL18A1, SLC19A1 (P1078L +1 more)	Single nucleotide variant (missense variant)	Glaucoma, primary closed-angle +3 more	GUncertain significance
Select item 445973	NM_001379500.1(COL18A1):c.2702TTC[1] (p.Leu902del)	COL18A1, SLC19A1 (L1082del +1 more)	Microsatellite (inframe_deletion)	Glaucoma, primary closed-angle +3 more	GBenign/Likely benign
Select item 1635424	NM_001379500.1(COL18A1):c.2869-11G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	Glaucoma, primary closed-angle +2 more	GLikely benign
Select item 1395895	NM_001379500.1(COL18A1):c.2929G>A (p.Gly977Ser)	COL18A1, SLC19A1 (G977S +2 more)	Single nucleotide variant (missense variant)	Glaucoma, primary closed-angle +2 more	GUncertain significance
Select item 1001754	NM_001379500.1(COL18A1):c.2947C>T (p.Arg983Cys)	COL18A1, SLC19A1 (R1160C +2 more)	Single nucleotide variant (missense variant)	Glaucoma, primary closed-angle +2 more	GUncertain significance
Select item 1040700	NM_001379500.1(COL18A1):c.2948G>A (p.Arg983His)	COL18A1, SLC19A1 (R1160H +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome 1 +2 more	GUncertain significance
Select item 447125	NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1119343	NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp)	COL18A1, SLC19A1 (R1106W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1661788	NM_001379500.1(COL18A1):c.3336C>T (p.Thr1112=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome 1 +2 more	GLikely benign
Select item 1511225	NM_001379500.1(COL18A1):c.3446C>T (p.Ala1149Val)	COL18A1, SLC19A1 (A1149V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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)	not provided +4 more	GPathogenic
Select item 1043254	NM_001379500.1(COL18A1):c.3757G>A (p.Gly1253Arg)	COL18A1, SLC19A1 (G1430R +2 more)	Single nucleotide variant (missense variant)	Glaucoma, primary closed-angle +2 more	GUncertain significance
Select item 1354496	NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val)	SLC19A1, COL18A1 (A1431V +2 more)	Single nucleotide variant (missense variant)	Glaucoma, primary closed-angle +3 more	GUncertain significance