10947[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 57237	GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3	ADAM18, ADAM2 +591 more	Copy number gain	See cases	GPathogenic
Select item 57312	GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3	LOC126860374, LOC126860375 +417 more	Copy number gain	See cases	GPathogenic
Select item 57114	GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1	ADAM18, ADAM2 +276 more	Copy number loss	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC130000227, LOC130000228 +541 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 154596	GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3	ANK1, AP3M2 +122 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	LOC130000302, LOC130000303 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	ANK1, AP3M2 +86 more	Copy number gain	See cases	GPathogenic
Select item 153159	GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1	CHRNA6, CHRNB3 +22 more	Copy number loss	See cases	GLikely pathogenic
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 363052	NM_001257180.2(SLC20A2):c.*1069G>C	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363053	NM_001257180.2(SLC20A2):c.*1057C>G	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363054	NM_001257180.2(SLC20A2):c.*926C>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GBenign
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 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 363055	NM_001257180.2(SLC20A2):c.*660T>C	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363056	NM_001257180.2(SLC20A2):c.*570G>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GBenign
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 363057	NM_001257180.2(SLC20A2):c.*538C>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	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 363058	NM_001257180.2(SLC20A2):c.*409A>G	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363059	NM_001257180.2(SLC20A2):c.*380C>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363060	NM_001257180.2(SLC20A2):c.*361A>G	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363061	NM_001257180.2(SLC20A2):c.*289A>C	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363062	NM_001257180.2(SLC20A2):c.*263A>C	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GBenign
Select item 363063	NM_001257180.2(SLC20A2):c.*171G>A	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363064	NM_001257180.2(SLC20A2):c.*124G>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
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 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 363067	NM_001257180.2(SLC20A2):c.*70C>T	SLC20A2	Single nucleotide variant (3 prime UTR variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 634890	NC_000008.10:g.(?_42275320)_(42297172_42302163)del	SLC20A2	Deletion	Idiopathic basal ganglia calcification 1	GLikely pathogenic
Select item 2989605	NM_001257180.2(SLC20A2):c.1950A>G (p.Pro650=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 708041	NM_001257180.2(SLC20A2):c.1934T>A (p.Met645Lys)	SLC20A2 (M645K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 363068	NM_001257180.2(SLC20A2):c.1911C>T (p.Ser637=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1 +1 more	GBenign/Likely benign
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 1450476	NM_001257180.2(SLC20A2):c.1895T>C (p.Val632Ala)	SLC20A2 (V632A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461032	NM_001257180.2(SLC20A2):c.1872G>A (p.Val624=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792829	NM_001257180.2(SLC20A2):c.1869C>T (p.Phe623=)	SLC20A2	Single nucleotide variant (synonymous 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 1301531	NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp)	SLC20A2 (R620W)	Single nucleotide variant (missense variant)	Vascular dementia	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 1253805	NM_001257180.2(SLC20A2):c.1822_1848del (p.Ile608_Trp616del)	SLC20A2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 2019872	NM_001257180.2(SLC20A2):c.1847G>A (p.Trp616Ter)	SLC20A2 (W616*)	Single nucleotide variant (nonsense)	not provided	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 75231	NM_001257180.2(SLC20A2):c.1828_1831del (p.Ser610fs)	SLC20A2 (S610fs)	Deletion (frameshift variant)	Idiopathic basal ganglia calcification 1	GPathogenic
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 363069	NM_001257180.2(SLC20A2):c.1803G>A (p.Ser601=)	SLC20A2	Single nucleotide variant (synonymous variant)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 29795	NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)	SLC20A2 (S601L)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 29794	NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)	SLC20A2 (S601W)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GPathogenic
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 1639728	NM_001257180.2(SLC20A2):c.1795-9C>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608174	NM_001257180.2(SLC20A2):c.1795-15T>C	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1646383	NM_001257180.2(SLC20A2):c.1794+18G>A	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915816	NM_001257180.2(SLC20A2):c.1794+17C>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658585	NM_001257180.2(SLC20A2):c.1794+1del	SLC20A2	Deletion (splice donor variant)	not provided	GLikely pathogenic
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 2695553	NM_001257180.2(SLC20A2):c.1762A>G (p.Ile588Val)	SLC20A2 (I588V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 29796	NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)	SLC20A2 (E575K)	Single nucleotide variant (missense variant)	Idiopathic basal ganglia calcification 1	GLikely pathogenic
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 1351044	NM_001257180.2(SLC20A2):c.1710C>T (p.Ser570=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 493479	NM_001257180.2(SLC20A2):c.1710-1G>A	SLC20A2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1982311	NM_001257180.2(SLC20A2):c.1710-7C>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896033	NM_001257180.2(SLC20A2):c.1710-16C>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2018358	NM_001257180.2(SLC20A2):c.1709+5G>T	SLC20A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 735360	NM_001257180.2(SLC20A2):c.1704G>A (p.Pro568=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 909279	NM_001257180.2(SLC20A2):c.1701G>A (p.Thr567=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2583065	NM_001257180.2(SLC20A2):c.1681A>T (p.Lys561Ter)	SLC20A2 (K561*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2984817	NM_001257180.2(SLC20A2):c.1656G>A (p.Gly552=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735161	NM_001257180.2(SLC20A2):c.1652G>A (p.Trp551Ter)	SLC20A2 (W551*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2143839	NM_001257180.2(SLC20A2):c.1641C>T (p.Gly547=)	SLC20A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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