SLC19A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 59035	GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3	ADARB1, BNAT1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 2652795	NC_000021.9:g.45498389GGGTCCCCTCTCGCCGCCA[1]	COL18A1, SLC19A1	Microsatellite (intron variant)	not provided	GBenign
Select item 3250536	NC_000021.9:g.45498480G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252580	NM_001379500.1(COL18A1):c.2684-51G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261904	NM_001379500.1(COL18A1):c.2684-28C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1640721	NM_001379500.1(COL18A1):c.2684-20C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168262	NM_001379500.1(COL18A1):c.2684-19G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2037430	NM_001379500.1(COL18A1):c.2684-15_2684-12del	COL18A1, SLC19A1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1603851	NM_001379500.1(COL18A1):c.2684-17C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2135267	NM_001379500.1(COL18A1):c.2684-15G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1672592	NM_001379500.1(COL18A1):c.2684-14TC[5]	COL18A1, SLC19A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1664795	NM_001379500.1(COL18A1):c.2684-15G>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959115	NM_001379500.1(COL18A1):c.2684-14T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655776	NM_001379500.1(COL18A1):c.2684-14TC[3]	COL18A1, SLC19A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 445701	NM_001379500.1(COL18A1):c.2684-14TC[2]	COL18A1, SLC19A1	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 1897919	NM_001379500.1(COL18A1):c.2684-12T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103575	NM_001379500.1(COL18A1):c.2684-11C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550279	NM_001379500.1(COL18A1):c.2684-11C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100303	NM_001379500.1(COL18A1):c.2684-10T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818814	NM_001379500.1(COL18A1):c.2684-9C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 447119	NM_001379500.1(COL18A1):c.2684-9C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1643771	NM_001379500.1(COL18A1):c.2684-7C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2190929	NM_001379500.1(COL18A1):c.2684-5T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 340254	NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu)	COL18A1, SLC19A1 (P1078L +1 more)	Single nucleotide variant (missense variant)	not provided +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 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 1429645	NM_001379500.1(COL18A1):c.2707C>T (p.Gln903Ter)	COL18A1, SLC19A1 (Q1318* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1614125	NM_001379500.1(COL18A1):c.2710T>C (p.Leu904=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519663	NM_001379500.1(COL18A1):c.2717C>G (p.Ala906Gly)	COL18A1, SLC19A1 (A906G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378453	NM_001379500.1(COL18A1):c.2717C>T (p.Ala906Val)	SLC19A1, COL18A1 (A1321V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362662	NM_001379500.1(COL18A1):c.2719G>A (p.Glu907Lys)	SLC19A1, COL18A1 (E1087K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898425	NM_001379500.1(COL18A1):c.2723T>G (p.Met908Arg)	COL18A1, SLC19A1 (M908R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066695	NM_001379500.1(COL18A1):c.2727G>C (p.Lys909Asn)	COL18A1, SLC19A1 (K1089N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403938	NM_001379500.1(COL18A1):c.2727G>A (p.Lys909=)	COL18A1, SLC19A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2018313	NM_001379500.1(COL18A1):c.2727+2T>C	COL18A1, SLC19A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1623067	NM_001379500.1(COL18A1):c.2727+7G>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548774	NM_001379500.1(COL18A1):c.2727+8A>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983575	NM_001379500.1(COL18A1):c.2727+10C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837277	NM_001379500.1(COL18A1):c.2727+14del	COL18A1, SLC19A1	Deletion (intron variant)	not provided	GLikely benign
Select item 2018518	NM_001379500.1(COL18A1):c.2727+14C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707965	NM_001379500.1(COL18A1):c.2727+16G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835533	NM_001379500.1(COL18A1):c.2727+20G>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272671	NM_001379500.1(COL18A1):c.2728-121C>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2127741	NM_001379500.1(COL18A1):c.2728-19C>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039000	NM_001379500.1(COL18A1):c.2728-17A>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561707	NM_001379500.1(COL18A1):c.2728-15T>C	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868326	NM_001379500.1(COL18A1):c.2728-14G>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely 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 2759868	NM_001379500.1(COL18A1):c.2728-9C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614306	NM_001379500.1(COL18A1):c.2728-9C>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628688	NM_001379500.1(COL18A1):c.2728-8G>T	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1515577	NM_001379500.1(COL18A1):c.2728-6C>A	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1950614	NM_001379500.1(COL18A1):c.2728-5C>G	COL18A1, SLC19A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025396	NM_001379500.1(COL18A1):c.2728-2_2728-1del	COL18A1, SLC19A1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1489699	NM_001379500.1(COL18A1):c.2728-2del	COL18A1, SLC19A1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1505525	NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)	COL18A1, SLC19A1 (G1090R +2 more)	Single nucleotide variant (missense variant)	Knobloch syndrome 1 +1 more	GConflicting classifications of pathogenicity

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