ClinVar for Gene (Select 6575) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3369669	NM_001257180.2(SLC20A2):c.1832G>A (p.Arg611His)	SLC20A2 (R611H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359447	NM_001257180.2(SLC20A2):c.958G>A (p.Gly320Ser)	SLC20A2 (G320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352295	NM_001257180.2(SLC20A2):c.1600G>A (p.Val534Ile)	SLC20A2 (V534I)	Single nucleotide variant (missense variant)	SLC20A2-related disorder	GLikely benign
Select item 3351233	NM_001257180.2(SLC20A2):c.1016G>A (p.Ser339Asn)	SLC20A2 (S339N)	Single nucleotide variant (missense variant)	SLC20A2-related disorder	GUncertain significance
Select item 3347016	NM_001257180.2(SLC20A2):c.289+5G>C	SLC20A2	Single nucleotide variant (intron variant)	SLC20A2-related disorder	GUncertain significance
Select item 3345384	NM_001257180.2(SLC20A2):c.1290C>G (p.Tyr430Ter)	SLC20A2 (Y430*)	Single nucleotide variant (nonsense)	SLC20A2-related disorder	GLikely pathogenic
Select item 3344669	NM_001257180.2(SLC20A2):c.260_261del (p.Leu87fs)	SLC20A2 (L87fs)	Microsatellite (frameshift variant)	SLC20A2-related disorder	GPathogenic
Select item 3340043	NM_001257180.2(SLC20A2):c.649del (p.Leu217fs)	SLC20A2 (L217fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 3339200	NM_001257180.2(SLC20A2):c.993C>A (p.Phe331Leu)	SLC20A2 (F331L)	Single nucleotide variant (missense variant)	not specified	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 3257450	NM_001257180.2(SLC20A2):c.1519G>A (p.Val507Met)	SLC20A2 (V507M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251694	NM_001257180.2(SLC20A2):c.581A>G (p.Asn194Ser)	SLC20A2 (N194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245574	NC_000008.10:g.(?_42129619)_(42329908_?)del	DKK4, IKBKB +3 more	Deletion	not provided	GPathogenic
Select item 3245546	NC_000008.10:g.(?_41518984)_(42329908_?)dup	ANK1, AP3M2 +7 more	Duplication	not provided	GUncertain significance
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 3234792	NM_001257180.2(SLC20A2):c.431-2A>T	SLC20A2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3163312	NM_001257180.2(SLC20A2):c.923G>A (p.Arg308Gln)	SLC20A2 (R308Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163311	NM_001257180.2(SLC20A2):c.411G>A (p.Trp137Ter)	SLC20A2 (W137*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3163310	NM_001257180.2(SLC20A2):c.391G>C (p.Gly131Arg)	SLC20A2 (G131R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163309	NM_001257180.2(SLC20A2):c.1778G>T (p.Ser593Ile)	SLC20A2 (S593I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163308	NM_001257180.2(SLC20A2):c.1764C>G (p.Ile588Met)	SLC20A2 (I588M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163307	NM_001257180.2(SLC20A2):c.1534G>A (p.Gly512Ser)	SLC20A2 (G512S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3069059	NM_001257180.2(SLC20A2):c.614-4C>T	SLC20A2	Single nucleotide variant (intron variant)	not specified	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 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063032	GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063030	GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3	ADAM18, ADAM2 +44 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063014	GRCh37/hg19 8p11.21(chr8:42274263-42690522)x3	CHRNA6, CHRNB3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3052730	NM_001257180.2(SLC20A2):c.517-3C>T	SLC20A2	Single nucleotide variant (intron variant)	SLC20A2-related disorder	GLikely benign
Select item 3029245	NM_001257180.2(SLC20A2):c.176C>A (p.Ser59Tyr)	SLC20A2 (S59Y)	Single nucleotide variant (missense variant)	SLC20A2-related disorder	GUncertain significance
Select item 3014963	NM_001257180.2(SLC20A2):c.731-3T>C	SLC20A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014572	NM_001257180.2(SLC20A2):c.261C>T (p.Leu87=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008141	NM_001257180.2(SLC20A2):c.1407C>T (p.Asp469=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989605	NM_001257180.2(SLC20A2):c.1950A>G (p.Pro650=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2984817	NM_001257180.2(SLC20A2):c.1656G>A (p.Gly552=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981735	NM_001257180.2(SLC20A2):c.345G>T (p.Thr115=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979811	NM_001257180.2(SLC20A2):c.929C>T (p.Ala310Val)	SLC20A2 (A310V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965498	NM_001257180.2(SLC20A2):c.1387C>A (p.Pro463Thr)	SLC20A2 (P463T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963368	NM_001257180.2(SLC20A2):c.640G>C (p.Ala214Pro)	SLC20A2 (A214P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2959757	NM_001257180.2(SLC20A2):c.1859G>A (p.Arg620Gln)	SLC20A2 (R620Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918664	NM_001257180.2(SLC20A2):c.1215G>T (p.Ala405=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910218	NM_001257180.2(SLC20A2):c.290-8A>G	SLC20A2	Single nucleotide variant (intron variant)	Idiopathic basal ganglia calcification 1 +1 more	GPathogenic
Select item 2884014	NM_001257180.2(SLC20A2):c.1157dup (p.Tyr386Ter)	SLC20A2 (Y386*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2851818	NM_001257180.2(SLC20A2):c.486T>G (p.Phe162Leu)	SLC20A2 (F162L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851759	NM_001257180.2(SLC20A2):c.711G>C (p.Trp237Cys)	SLC20A2 (W237C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837422	NM_001257180.2(SLC20A2):c.1292A>G (p.Asp431Gly)	SLC20A2 (D431G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821960	NM_001257180.2(SLC20A2):c.783_786del (p.Ser261fs)	SLC20A2 (S261fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2819388	NM_001257180.2(SLC20A2):c.1426GAG[1] (p.Glu477del)	SLC20A2 (E477del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2790118	NM_001257180.2(SLC20A2):c.693G>C (p.Trp231Cys)	SLC20A2 (W231C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770332	NM_001257180.2(SLC20A2):c.1504C>T (p.His502Tyr)	SLC20A2 (H502Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735163	NM_001257180.2(SLC20A2):c.344C>T (p.Thr115Met)	SLC20A2 (T115M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2735162	NM_001257180.2(SLC20A2):c.935-1G>A	SLC20A2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2735161	NM_001257180.2(SLC20A2):c.1652G>A (p.Trp551Ter)	SLC20A2 (W551*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2708801	NM_001257180.2(SLC20A2):c.1194G>A (p.Val398=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695553	NM_001257180.2(SLC20A2):c.1762A>G (p.Ile588Val)	SLC20A2 (I588V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2685308	GRCh37/hg19 8p11.21(chr8:42274264-42307548)x1	SLC20A2	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
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 2658585	NM_001257180.2(SLC20A2):c.1794+1del	SLC20A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2583065	NM_001257180.2(SLC20A2):c.1681A>T (p.Lys561Ter)	SLC20A2 (K561*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2582091	NM_001257180.2(SLC20A2):c.1794+1G>A	SLC20A2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2580355	GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3	NKX6-3, PPDPFL +64 more	Copy number gain	See cases	GPathogenic
Select item 2577073	NM_001257180.2(SLC20A2):c.811T>C (p.Phe271Leu)	SLC20A2 (F271L)	Single nucleotide variant (missense variant)	not specified	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 2505871	NM_001257180.2(SLC20A2):c.172G>A (p.Gly58Ser)	SLC20A2 (G58S)	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 2500585	NM_001257180.2(SLC20A2):c.1555C>G (p.Leu519Val)	SLC20A2 (L519V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499074	NM_001257180.2(SLC20A2):c.730_730+1del	SLC20A2	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2494220	NM_001257180.2(SLC20A2):c.385G>A (p.Ala129Thr)	SLC20A2 (A129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2431014	NM_001257180.2(SLC20A2):c.73G>C (p.Gly25Arg)	SLC20A2 (G25R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429026	NM_001257180.2(SLC20A2):c.211C>T (p.Arg71Cys)	SLC20A2 (R71C)	Single nucleotide variant (missense variant)	not provided	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 2425642	NC_000008.10:g.(?_41518984)_(43054712_?)dup	ANK1, AP3M2 +16 more	Duplication	Torsion dystonia 6	GUncertain significance
Select item 2424198	NC_000008.10:g.(?_41518984)_(42698237_?)dup	ANK1, AP3M2 +11 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance
Select item 2419883	NM_001257180.2(SLC20A2):c.1419GGAGAAGGA[1] (p.473EEK[1])	SLC20A2	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2373799	NM_001257180.2(SLC20A2):c.1223C>T (p.Ser408Leu)	SLC20A2 (S408L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345858	NM_001257180.2(SLC20A2):c.716G>A (p.Arg239Gln)	SLC20A2 (R239Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305131	NM_001257180.2(SLC20A2):c.1450C>T (p.His484Tyr)	SLC20A2 (H484Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293492	NM_001257180.2(SLC20A2):c.944T>C (p.Leu315Pro)	SLC20A2 (L315P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292283	NM_001257180.2(SLC20A2):c.1331A>T (p.Glu444Val)	SLC20A2 (E444V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290519	NM_001257180.2(SLC20A2):c.892T>C (p.Ser298Pro)	SLC20A2 (S298P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176635	NM_001257180.2(SLC20A2):c.575C>T (p.Ala192Val)	SLC20A2 (A192V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169831	NM_001257180.2(SLC20A2):c.987C>T (p.Gly329=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2169534	NM_001257180.2(SLC20A2):c.613G>A (p.Val205Met)	SLC20A2 (V205M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165615	NM_001257180.2(SLC20A2):c.178G>A (p.Val60Met)	SLC20A2 (V60M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2143839	NM_001257180.2(SLC20A2):c.1641C>T (p.Gly547=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136663	NM_001257180.2(SLC20A2):c.1711G>A (p.Gly571Ser)	SLC20A2 (G571S)	Single nucleotide variant (missense variant)	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 2121490	NM_001257180.2(SLC20A2):c.1000G>C (p.Asp334His)	SLC20A2 (D334H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121489	NM_001257180.2(SLC20A2):c.1239_1242del (p.Ser413fs)	SLC20A2 (S413fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2118110	NM_001257180.2(SLC20A2):c.943_944del (p.Leu315fs)	SLC20A2 (L315fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2110001	NM_001257180.2(SLC20A2):c.796G>A (p.Ala266Thr)	SLC20A2 (A266T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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