"GeneDx"[submitter] AND "SLC20A2"[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 363065	NM_001257180.2(SLC20A2):c.*113A>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 363066	NM_001257180.2(SLC20A2):c.*112G>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 1253805	NM_001257180.2(SLC20A2):c.1822_1848del (p.Ile608_Trp616del)	SLC20A2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 3369669	NM_001257180.2(SLC20A2):c.1832G>A (p.Arg611His)	SLC20A2 (R611H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267011	NM_001257180.2(SLC20A2):c.1825C>T (p.Arg609Cys)	SLC20A2 (R609C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 284842	NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)	SLC20A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2446690	NM_001257180.2(SLC20A2):c.1807G>A (p.Val603Met)	SLC20A2 (V603M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237109	NM_001257180.2(SLC20A2):c.1795-32C>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262853	NM_001257180.2(SLC20A2):c.1794+159T>C	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200827	NM_001257180.2(SLC20A2):c.1794+150T>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582091	NM_001257180.2(SLC20A2):c.1794+1G>A	SLC20A2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1339721	NM_001257180.2(SLC20A2):c.1794+1G>C	SLC20A2	Single nucleotide variant (splice donor variant)	Idiopathic basal ganglia calcification 1 +2 more	GPathogenic/Likely pathogenic
Select item 29797	NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met)	SLC20A2 (T595M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1308480	NM_001257180.2(SLC20A2):c.1765G>A (p.Gly589Arg)	SLC20A2 (G589R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193950	NM_001257180.2(SLC20A2):c.1710-141T>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193050	NM_001257180.2(SLC20A2):c.1710-148C>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297861	NM_001257180.2(SLC20A2):c.1709+275G>C	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1064453	NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)	SLC20A2 (P568L)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +1 more	GConflicting classifications of pathogenicity
Select item 3370161	NM_001257180.2(SLC20A2):c.1616A>G (p.Tyr539Cys)	SLC20A2 (Y539C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489160	NM_001257180.2(SLC20A2):c.1604G>A (p.Trp535Ter)	SLC20A2 (W535*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1308807	NM_001257180.2(SLC20A2):c.1568A>G (p.Gln523Arg)	SLC20A2 (Q523R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500585	NM_001257180.2(SLC20A2):c.1555C>G (p.Leu519Val)	SLC20A2 (L519V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188085	NM_001257180.2(SLC20A2):c.1524-35A>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223863	NM_001257180.2(SLC20A2):c.1524-131dup	SLC20A2	Duplication (intron variant)	not provided	GLikely benign
Select item 1263485	NM_001257180.2(SLC20A2):c.1524-176A>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216612	NM_001257180.2(SLC20A2):c.1523+42C>A	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218997	NM_001257180.2(SLC20A2):c.1523+41G>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296967	NM_001257180.2(SLC20A2):c.1523+24C>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 363072	NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)	SLC20A2 (A480T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1800679	NM_001257180.2(SLC20A2):c.1419GGAGAAGGA[3] (p.Lys478_Asp479insGluGluLys)	SLC20A2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2136169	NM_001257180.2(SLC20A2):c.1399C>G (p.Arg467Gly)	SLC20A2 (R467G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620147	NM_001257180.2(SLC20A2):c.1399C>T (p.Arg467Ter)	SLC20A2 (R467*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 422286	NM_001257180.2(SLC20A2):c.1308C>G (p.Tyr436Ter)	SLC20A2 (Y436*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3371807	NM_001257180.2(SLC20A2):c.1304G>A (p.Ser435Asn)	SLC20A2 (S435N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147974	NM_001257180.2(SLC20A2):c.1288T>A (p.Tyr430Asn)	SLC20A2 (Y430N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 363074	NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 734004	NM_001257180.2(SLC20A2):c.1198G>A (p.Ala400Thr)	SLC20A2 (A400T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 985994	NM_001257180.2(SLC20A2):c.1067A>T (p.Asp356Val)	SLC20A2 (D356V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3319045	NM_001257180.2(SLC20A2):c.1045A>G (p.Lys349Glu)	SLC20A2 (K349E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 363077	NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363078	NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 280572	NM_001257180.2(SLC20A2):c.971C>A (p.Ser324Ter)	SLC20A2 (S324*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3372481	NM_001257180.2(SLC20A2):c.962C>A (p.Ser321Tyr)	SLC20A2 (S321Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1252317	NM_001257180.2(SLC20A2):c.935-49dup	SLC20A2	Duplication (intron variant)	not provided	GBenign
Select item 1229124	NM_001257180.2(SLC20A2):c.935-36del	SLC20A2	Deletion (intron variant)	not provided	GBenign
Select item 1271161	NM_001257180.2(SLC20A2):c.935-45A>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 363079	NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 363080	NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)	SLC20A2 (G304S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 363081	NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 363083	NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 363084	NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3370880	NM_001257180.2(SLC20A2):c.838A>G (p.Asn280Asp)	SLC20A2 (N280D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504440	NM_001257180.2(SLC20A2):c.835G>A (p.Ala279Thr)	SLC20A2 (A279T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363087	NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln)	SLC20A2 (R254Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1253533	NM_001257180.2(SLC20A2):c.730+173T>C	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662756	NM_001257180.2(SLC20A2):c.707C>T (p.Pro236Leu)	SLC20A2 (P236L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693379	NM_001257180.2(SLC20A2):c.638G>C (p.Trp213Ser)	SLC20A2 (W213S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373373	NM_001257180.2(SLC20A2):c.623T>A (p.Leu208His)	SLC20A2 (L208H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 75233	NM_001257180.2(SLC20A2):c.583_584del (p.Val195fs)	SLC20A2 (V195fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1291973	NM_001257180.2(SLC20A2):c.517-25A>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231576	NM_001257180.2(SLC20A2):c.517-250G>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 280118	NM_001257180.2(SLC20A2):c.509del (p.Ile169_Leu170insTer)	SLC20A2	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 452417	NM_001257180.2(SLC20A2):c.458dup (p.Leu153fs)	SLC20A2 (L153fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 816984	NM_001257180.2(SLC20A2):c.458T>A (p.Leu153Ter)	SLC20A2 (L153*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1803671	NM_001257180.2(SLC20A2):c.452C>A (p.Pro151Gln)	SLC20A2 (P151Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187793	NM_001257180.2(SLC20A2):c.430+132A>G	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257256	NM_001257180.2(SLC20A2):c.430+21C>A	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423173	NM_001257180.2(SLC20A2):c.394A>G (p.Thr132Ala)	SLC20A2 (T132A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363090	NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 280122	NM_001257180.2(SLC20A2):c.338C>G (p.Ser113Ter)	SLC20A2 (S113*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1698061	NM_001257180.2(SLC20A2):c.295G>A (p.Ala99Thr)	SLC20A2 (A99T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 363092	NM_001257180.2(SLC20A2):c.290-13C>A	SLC20A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1313919	NM_001257180.2(SLC20A2):c.176C>T (p.Ser59Phe)	SLC20A2 (S59F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505871	NM_001257180.2(SLC20A2):c.172G>A (p.Gly58Ser)	SLC20A2 (G58S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311707	NM_001257180.2(SLC20A2):c.136C>G (p.Gln46Glu)	SLC20A2 (Q46E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522849	NM_001257180.2(SLC20A2):c.136C>T (p.Gln46Ter)	SLC20A2 (Q46*)	Single nucleotide variant (nonsense)	Idiopathic basal ganglia calcification 1 +1 more	GPathogenic
Select item 3371266	NM_001257180.2(SLC20A2):c.97T>C (p.Phe33Leu)	SLC20A2 (F33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372804	NM_001257180.2(SLC20A2):c.82G>A (p.Asp28Asn)	SLC20A2 (D28N)	Single nucleotide variant (missense variant)	SLC20A2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2431014	NM_001257180.2(SLC20A2):c.73G>C (p.Gly25Arg)	SLC20A2 (G25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286393	NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)	SLC20A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1329822	NM_001257180.2(SLC20A2):c.56T>C (p.Ile19Thr)	SLC20A2 (I19T)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +1 more	GUncertain significance
Select item 1312151	NM_001257180.2(SLC20A2):c.38G>A (p.Gly13Asp)	SLC20A2 (G13D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 3359447	NM_001257180.2(SLC20A2):c.958G>A (p.Gly320Ser)	SLC20A2 (G320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 89