SLC5A3[gene] - ClinVar

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

Search results

Items: 81

	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 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	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 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 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 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 2273877	NM_006933.7(SLC5A3):c.106G>A (p.Val36Met)	MRPS6, SLC5A3 (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165243	NM_006933.7(SLC5A3):c.223A>G (p.Ser75Gly)	MRPS6, SLC5A3 (S75G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340747	NM_006933.7(SLC5A3):c.274C>T (p.Leu92Phe)	MRPS6, SLC5A3 (L92F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309422	NM_006933.7(SLC5A3):c.554A>G (p.Asp185Gly)	MRPS6, SLC5A3 (D185G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165239	NM_006933.7(SLC5A3):c.1187A>C (p.Lys396Thr)	MRPS6, SLC5A3 (K396T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556828	NM_006933.7(SLC5A3):c.1195C>T (p.Arg399Cys)	MRPS6, SLC5A3 (R399C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 756704	NM_006933.7(SLC5A3):c.1203C>T (p.Ser401=)	MRPS6, SLC5A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2342135	NM_006933.7(SLC5A3):c.1249T>G (p.Phe417Val)	MRPS6, SLC5A3 (F417V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211552	NM_006933.7(SLC5A3):c.1282A>G (p.Ile428Val)	MRPS6, SLC5A3 (I428V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165240	NM_006933.7(SLC5A3):c.1636T>C (p.Phe546Leu)	MRPS6, SLC5A3 (F546L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224716	NM_006933.7(SLC5A3):c.1792C>T (p.Leu598Phe)	MRPS6, SLC5A3 (L598F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165241	NM_006933.7(SLC5A3):c.1804G>T (p.Asp602Tyr)	MRPS6, SLC5A3 (D602Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517974	NM_006933.7(SLC5A3):c.1928A>C (p.Glu643Ala)	MRPS6, SLC5A3 (E643A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367728	NM_006933.7(SLC5A3):c.2005C>A (p.Leu669Ile)	MRPS6, SLC5A3 (L669I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320048	NM_006933.7(SLC5A3):c.2033T>A (p.Met678Lys)	MRPS6, SLC5A3 (M678K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165242	NM_006933.7(SLC5A3):c.2055A>C (p.Leu685Phe)	MRPS6, SLC5A3 (L685F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320049	NM_006933.7(SLC5A3):c.2059A>T (p.Met687Leu)	MRPS6, SLC5A3 (M687L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1526716	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)	CLIC6, KCNE1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526710	GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)	KRTAP20-1, KRTAP20-2 +91 more	Copy number gain	not specified	GPathogenic
Select item 1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)	KRTAP20-4, KRTAP21-1 +77 more	Copy number loss	not specified	GUncertain significance
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1409651	NC_000021.8:g.(?_32439271)_(39212984_?)dup	CHAF1B, IFNGR2 +48 more	Duplication	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 +3 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1035906	NC_000021.8:g.(?_32439271)_(37133458_?)dup	ATP5PO, CFAP298 +33 more	Duplication	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980231	GRCh37/hg19 21q22.11(chr21:34379096-35572731)x1	ATP5PO, CRYZL1 +14 more	Copy number loss	not provided	GPathogenic
Select item 872829	GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022)	CFAP298, ATP5PO +28 more	Copy number loss	21q22.11q22.12 microdeletion syndrome	GPathogenic
Select item 812914	NC_000021.8:g.35304355_36865958del	KCNE1, KCNE2 +6 more	Deletion	Thrombocytopenia	GLikely pathogenic
Select item 812913	NC_000021.8:g.35304341_36865875del	CLIC6, KCNE1 +6 more	Deletion	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GPathogenic FDA Recognized database
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 685844	GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1	CLIC6, KCNE1 +6 more	Copy number loss	not provided	GPathogenic
Select item 585231	GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1	ATP5PO, CRYZL1 +16 more	Copy number loss	not provided	Gnot provided
Select item 564677	GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3	ATP5PO, B3GALT5 +56 more	Copy number gain	not provided	GPathogenic
Select item 564670	GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3	RCAN1, CLIC6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 153076	GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1	ATP5PO, BACH1 +75 more	Copy number loss	See cases	GPathogenic
Select item 147666	GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3	ATP5PO, CLIC6 +8 more	Copy number gain	See cases	GPathogenic
Select item 59248	GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3	CLIC6, KCNE1 +6 more	Copy number gain	See cases	GPathogenic

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: 81