"Illumina Laboratory Services, Illumina"[submitter] AND "SLC19A1"[gene - ClinVar

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Items: 78

	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 340255	NM_001379500.1(COL18A1):c.2694G>A (p.Pro898=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 895261	NM_001379500.1(COL18A1):c.2728-12T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	Knobloch syndrome	GUncertain significance
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 632383	NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs)	COL18A1, SLC19A1 (G1343fs +2 more)	Insertion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895262	NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GConflicting classifications of pathogenicity
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 447120	NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg)	COL18A1, SLC19A1 (G1108R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 340256	NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 340257	NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser)	COL18A1, SLC19A1 (G1110S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 447122	NM_001379500.1(COL18A1):c.2790C>T (p.Gly930=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +2 more	GBenign/Likely benign
Select item 340258	NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser)	COL18A1, SLC19A1 (G1119S +1 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +1 more	GConflicting classifications of pathogenicity
Select item 340259	NM_001379500.1(COL18A1):c.2823C>A (p.Pro941=)	SLC19A1, COL18A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome +1 more	GBenign/Likely benign
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 340261	NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser)	COL18A1, SLC19A1 (P1144S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 340262	NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser)	COL18A1, SLC19A1 (P1163S +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +2 more	GUncertain significance
Select item 340263	NM_001379500.1(COL18A1):c.3030C>T (p.Gly1010=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome	GUncertain significance
Select item 340264	NM_001379500.1(COL18A1):c.3240A>G (p.Pro1080=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome	GLikely benign
Select item 340265	NM_001379500.1(COL18A1):c.3367G>A (p.Ala1123Thr)	COL18A1, SLC19A1 (A1300T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 340266	NM_001379500.1(COL18A1):c.3547C>T (p.Arg1183Cys)	COL18A1, SLC19A1 (R1360C +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome +2 more	GUncertain significance
Select item 340267	NM_001379500.1(COL18A1):c.3548G>A (p.Arg1183His)	COL18A1, SLC19A1 (R1360H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 340268	NM_001379500.1(COL18A1):c.3558C>T (p.Asp1186=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome	GUncertain significance
Select item 340269	NM_001379500.1(COL18A1):c.3658G>A (p.Ala1220Thr)	COL18A1, SLC19A1 (A1397T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 340270	NM_001379500.1(COL18A1):c.3682G>A (p.Val1228Ile)	COL18A1, SLC19A1 (V1405I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 340271	NM_001379500.1(COL18A1):c.3690C>T (p.Leu1230=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome	GLikely benign
Select item 340272	NM_001379500.1(COL18A1):c.3765C>T (p.Arg1255=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	Knobloch syndrome	GUncertain significance
Select item 340273	NM_001379500.1(COL18A1):c.3787G>A (p.Asp1263Asn)	COL18A1, SLC19A1 (D1440N +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome	GLikely benign
Select item 340274	NM_001379500.1(COL18A1):c.3832G>T (p.Gly1278Cys)	COL18A1, SLC19A1 (G1455C +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome	GLikely benign
Select item 897302	NM_001379500.1(COL18A1):c.*6G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 898466	NM_001379500.1(COL18A1):c.*12A>T	SLC19A1, COL18A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 898467	NM_001379500.1(COL18A1):c.*13T>A	SLC19A1, COL18A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 261884	NM_001379500.1(COL18A1):c.*16G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign
Select item 340275	NM_001379500.1(COL18A1):c.*30G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340276	NM_001379500.1(COL18A1):c.*71G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome +1 more	GBenign
Select item 898468	NM_001379500.1(COL18A1):c.*95A>C	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 898469	NM_001379500.1(COL18A1):c.*126C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340277	NM_001379500.1(COL18A1):c.*133T>C	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340278	NM_001379500.1(COL18A1):c.*134G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340279	NM_001379500.1(COL18A1):c.*277T>C	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 895477	NM_001379500.1(COL18A1):c.*291G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340280	NM_001379500.1(COL18A1):c.*302C>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GLikely benign
Select item 340281	NM_001379500.1(COL18A1):c.*305C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340282	NM_001379500.1(COL18A1):c.*306G>C	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 340283	NM_001379500.1(COL18A1):c.*340G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 340284	NM_001379500.1(COL18A1):c.*342C>G	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340285	NM_001379500.1(COL18A1):c.*369C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340286	NM_001379500.1(COL18A1):c.*390G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 896879	NM_001379500.1(COL18A1):c.*431G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340287	NM_001379500.1(COL18A1):c.*484C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340288	NM_001379500.1(COL18A1):c.*498G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340289	NM_001379500.1(COL18A1):c.*505G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340290	NM_001379500.1(COL18A1):c.*532T>C	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GLikely benign
Select item 340291	NM_001379500.1(COL18A1):c.*550dup	COL18A1, SLC19A1	Duplication (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340292	NM_001379500.1(COL18A1):c.*584C>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340293	NM_001379500.1(COL18A1):c.*638G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 897378	NM_001379500.1(COL18A1):c.*718A>G	SLC19A1, COL18A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 897379	NM_001379500.1(COL18A1):c.*732C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 897380	NM_001379500.1(COL18A1):c.*824G>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340294	NM_001379500.1(COL18A1):c.*849A>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GLikely benign
Select item 340295	NM_001379500.1(COL18A1):c.*851C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340296	NM_001379500.1(COL18A1):c.*852G>C	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 340297	NM_001379500.1(COL18A1):c.*864C>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340298	NM_001379500.1(COL18A1):c.*866C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 898537	NM_001379500.1(COL18A1):c.*918C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 898538	NM_001379500.1(COL18A1):c.*954C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 898539	NM_001379500.1(COL18A1):c.*1000C>A	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 898540	NM_001379500.1(COL18A1):c.*1062C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340299	NM_001379500.1(COL18A1):c.*1088C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 898541	NM_001379500.1(COL18A1):c.*1107C>G	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340300	NM_001379500.1(COL18A1):c.*1129A>C	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 340301	NM_001379500.1(COL18A1):c.1148_1149insCA	COL18A1, SLC19A1	Insertion (3 prime UTR variant)	Knobloch syndrome	GBenign
Select item 340302	NM_001379500.1(COL18A1):c.*1157C>G	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340303	NM_001379500.1(COL18A1):c.*1203A>G	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 895549	NM_001379500.1(COL18A1):c.*1209C>T	SLC19A1, COL18A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 340304	NM_001379500.1(COL18A1):c.*1222C>T	COL18A1, SLC19A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 895550	NM_001379500.1(COL18A1):c.*1235T>C	SLC19A1, COL18A1	Single nucleotide variant (3 prime UTR variant)	Knobloch syndrome	GUncertain significance
Select item 1710511	GRCh37/hg19 21q22.3(chr21:45808650-47529568)x1	SUMO3, TRPM2 +32 more	Copy number loss	not provided	GPathogenic

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Items: 78