ClinVar for MedGen (Select 1637664) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340043	NM_001257180.2(SLC20A2):c.649del (p.Leu217fs)	SLC20A2 (L217fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 3147974	NM_001257180.2(SLC20A2):c.1288T>A (p.Tyr430Asn)	SLC20A2 (Y430N)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 3065782	NM_001257180.2(SLC20A2):c.613+1G>A	SLC20A2	Single nucleotide variant (splice donor variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 2910218	NM_001257180.2(SLC20A2):c.290-8A>G	SLC20A2	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 2585196	NM_002608.4(PDGFB):c.434A>C (p.Gln145Pro)	PDGFB (Q130P +1 more)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 2575891	NM_001257180.2(SLC20A2):c.58_62del (p.Ala21fs)	SLC20A2 (A21fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 2441711	NM_001257180.2(SLC20A2):c.1158C>G (p.Tyr386Ter)	SLC20A2 (Y386*)	Single nucleotide variant (nonsense)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 2435986	NM_001257180.2(SLC20A2):c.1274AGA[1] (p.Lys426del)	SLC20A2 (K426del)	Microsatellite (inframe_deletion)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 2428501	NM_001257180.2(SLC20A2):c.185T>C (p.Leu62Pro)	SLC20A2 (L62P)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 1805858	NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)	SLC20A2 (M645V)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 1805266	NM_001257180.2(SLC20A2):c.1438_1439del (p.Ala480fs)	SLC20A2 (A480fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 1804782	NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)	SLC20A2 (I285fs)	Deletion (frameshift variant)	SLC20A2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1802173	NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)	SLC20A2 (T115K)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 1708974	NM_001257180.2(SLC20A2):c.601A>G (p.Thr201Ala)	SLC20A2 (T201A)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 1705290	NM_001257180.2(SLC20A2):c.1637_1638del (p.Thr546fs)	SLC20A2 (T546fs)	Microsatellite (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 1702969	NM_001257180.2(SLC20A2):c.731-18_738del	SLC20A2	Deletion (splice acceptor variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 1691845	NM_001257180.2(SLC20A2):c.80_92del (p.Asn27fs)	SLC20A2 (N27fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 1676262	NM_001257180.2(SLC20A2):c.1144C>T (p.Arg382Ter)	SLC20A2 (R382*)	Single nucleotide variant (nonsense)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 1343824	NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu)	SLC20A2 (D615E)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
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 1333834	NM_001257180.2(SLC20A2):c.218G>T (p.Gly73Val)	SLC20A2 (G73V)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
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 1325508	NM_001363711.2(DUOX2):c.3596T>C (p.Leu1199Pro)	DUOX2 (L1199P)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 1325507	NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser)	SLC20A2 (A633S)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +1 more	GUncertain significance
Select item 1325077	NM_001257180.2(SLC20A2):c.290-1G>A	SLC20A2	Single nucleotide variant (splice acceptor variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 1325076	NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs)	SLC20A2 (E55fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 1304805	NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)	PDGFRB (T140M +1 more)	Single nucleotide variant (missense variant +1 more)	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1209907	NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln)	SLC20A2 (R181Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 930919	NM_001257180.2(SLC20A2):c.568A>G (p.Thr190Ala)	SLC20A2 (T190A)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 930597	NM_001257180.2(SLC20A2):c.99del (p.Phe33fs)	SLC20A2 (F33fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 911532	NM_001135674.2(SMIM19):c.-407C>T	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911531	NM_001135674.2(SMIM19):c.-411G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911530	NM_001135674.2(SMIM19):c.-412G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911529	NM_001135674.2(SMIM19):c.-450A>G	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911476	NM_001257180.2(SLC20A2):c.935-12A>C	SLC20A2	Single nucleotide variant (intron variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 911475	NM_001257180.2(SLC20A2):c.971C>T (p.Ser324Leu)	SLC20A2 (S324L)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +1 more	GUncertain significance
Select item 911408	NM_001257180.2(SLC20A2):c.*482T>C	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911407	NM_001257180.2(SLC20A2):c.*539G>A	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911277	NM_001257180.2(SLC20A2):c.1101C>G (p.Pro367=)	SLC20A2	Single nucleotide variant (synonymous variant)	SLC20A2-related disorder +2 more	GBenign/Likely benign
Select item 911276	NM_001257180.2(SLC20A2):c.1197C>T (p.His399=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911275	NM_001257180.2(SLC20A2):c.1338G>C (p.Glu446Asp)	SLC20A2 (E446D)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +1 more	GConflicting classifications of pathogenicity
Select item 911215	NM_001257180.2(SLC20A2):c.*798G>A	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911214	NM_001257180.2(SLC20A2):c.*925G>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 911213	NM_001257180.2(SLC20A2):c.*1320C>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910319	NM_001135674.2(SMIM19):c.-456A>C	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910318	NM_001135674.2(SMIM19):c.-472A>C	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910317	NM_001135674.2(SMIM19):c.-543G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910316	NM_001257180.2(SLC20A2):c.-264-4A>G	SLC20A2	Single nucleotide variant (intron variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910315	NM_001257180.2(SLC20A2):c.-181T>A	SLC20A2	Single nucleotide variant (5 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 909352	NM_001257180.2(SLC20A2):c.69T>A (p.Ser23=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 909351	NM_001257180.2(SLC20A2):c.119G>A (p.Gly40Asp)	SLC20A2 (G40D)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 909281	NM_001257180.2(SLC20A2):c.1439C>T (p.Ala480Val)	SLC20A2 (A480V)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +2 more	GUncertain significance
Select item 909280	NM_001257180.2(SLC20A2):c.1580C>T (p.Thr527Met)	SLC20A2 (T527M)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +2 more	GConflicting classifications of pathogenicity
Select item 909279	NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 908503	NM_001257180.2(SLC20A2):c.679G>A (p.Ala227Thr)	SLC20A2 (A227T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 908433	NM_001257180.2(SLC20A2):c.1849C>T (p.Arg617Cys)	SLC20A2 (R617C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908432	NM_001257180.2(SLC20A2):c.*120C>G	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GBenign
Select item 856453	NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg)	SLC20A2 (P286R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 721332	NM_001257180.2(SLC20A2):c.1282C>T (p.Leu428=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 691908	NG_032161.2:g.(87059_102191)_(118197_128986)del	SLC20A2	Deletion	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 636249	NM_001257180.2(SLC20A2):c.935-2A>G	SLC20A2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 634898	NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)	SLC20A2 (L7fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 634897	NM_001257180.2(SLC20A2):c.1795-1G>A	SLC20A2	Single nucleotide variant (splice acceptor variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 634896	NM_001257180.2(SLC20A2):c.303del (p.Trp101fs)	SLC20A2 (W101fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 634895	NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del	SLC20A2	Deletion	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 634894	NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro)	SLC20A2 (H399P)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 634893	NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser)	SLC20A2 (G63S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 634892	NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp)	SLC20A2 (G63D)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 634891	NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs)	SLC20A2 (V507fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 634890	NC_000008.10:g.(?_42275320)_(42297172_42302163)del	SLC20A2	Deletion	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 584447	NM_001257180.2(SLC20A2):c.1375G>T (p.Glu459Ter)	SLC20A2 (E459*)	Single nucleotide variant (nonsense)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 522850	NM_001257180.2(SLC20A2):c.1723G>T (p.Glu575Ter)	SLC20A2 (E575*)	Single nucleotide variant (nonsense)	Idiopathic basal ganglia calcification 1	GPathogenic
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 363105	NM_001135674.2(SMIM19):c.-230G>A	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363104	NM_001135674.2(SMIM19):c.-254G>T	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363103	NM_001135674.2(SMIM19):c.-288T>A	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363102	NM_001135674.2(SMIM19):c.-365C>A	SLC20A2, SMIM19	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363101	NM_001135674.2(SMIM19):c.-386G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363100	NM_001135674.2(SMIM19):c.-433C>T	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363099	NM_001135674.2(SMIM19):c.-517C>T	SLC20A2, SMIM19 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363098	NM_001135674.2(SMIM19):c.-534C>G	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363097	NM_001135674.2(SMIM19):c.-560dup	LOC130000303, SLC20A2 +1 more	Duplication (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363096	NM_001135674.2(SMIM19):c.-564dup	LOC130000303, SLC20A2 +1 more	Duplication (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363095	NM_001257180.2(SLC20A2):c.-89A>G	SLC20A2	Single nucleotide variant (5 prime UTR variant)	Idiopathic basal ganglia calcification 1 +1 more	GConflicting classifications of pathogenicity
Select item 363094	NM_001257180.2(SLC20A2):c.138G>A (p.Gln46=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 363093	NM_001257180.2(SLC20A2):c.186A>G (p.Leu62=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +2 more	GBenign/Likely benign
Select item 363092	NM_001257180.2(SLC20A2):c.290-13C>A	SLC20A2	Single nucleotide variant (intron variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363091	NM_001257180.2(SLC20A2):c.290-5T>C	SLC20A2	Single nucleotide variant (intron variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363090	NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
Select item 363089	NM_001257180.2(SLC20A2):c.553G>C (p.Val185Leu)	SLC20A2 (V185L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 363088	NM_001257180.2(SLC20A2):c.678C>T (p.Phe226=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GLikely benign
Select item 363087	NM_001257180.2(SLC20A2):c.761G>A (p.Arg254Gln)	SLC20A2 (R254Q)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1 +2 more	GBenign/Likely benign
Select item 363086	NM_001257180.2(SLC20A2):c.787G>A (p.Val263Ile)	SLC20A2 (V263I)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363085	NM_001257180.2(SLC20A2):c.834G>A (p.Lys278=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363084	NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GConflicting classifications of pathogenicity
Select item 363083	NM_001257180.2(SLC20A2):c.849C>T (p.Ser283=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363082	NM_001257180.2(SLC20A2):c.883C>T (p.Leu295=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GConflicting classifications of pathogenicity
Select item 363081	NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363080	NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)	SLC20A2 (G304S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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