Related gene-specific medical variations for Gene (Select 6575) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2685308	GRCh37/hg19 8p11.21(chr8:42274264-42307548)x1	SLC20A2	Copy number loss	not provided	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 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 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 911529	NM_006749.5(SLC20A2):c.-372T>C	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910319	NM_006749.5(SLC20A2):c.-366T>G	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910318	NM_006749.5(SLC20A2):c.-350T>G	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 910317	NM_006749.5(SLC20A2):c.-279C>T	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 691908	NG_032161.2:g.(87059_102191)_(118197_128986)del	SLC20A2	Deletion	Idiopathic basal ganglia calcification 1	GPathogenic
Select item 563423	GRCh37/hg19 8p11.21(chr8:42301152-42354257)x1	SLC20A2	Copy number loss	not provided	GLikely pathogenic
Select item 363100	NM_006749.5(SLC20A2):c.-389G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363099	NM_006749.5(SLC20A2):c.-305G>A	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1 +1 more	GBenign
Select item 363098	NM_006749.5(SLC20A2):c.-288G>C	LOC130000303, SLC20A2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363097	NM_006749.5(SLC20A2):c.-265+5dup	LOC130000303, SLC20A2 +1 more	Duplication (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 363096	NM_006749.5(SLC20A2):c.-265+8dup	LOC130000303, SLC20A2 +1 more	Duplication (5 prime UTR variant +1 more)	Idiopathic basal ganglia calcification 1	GUncertain significance
Select item 100856	NM_001257180.2(SLC20A2):c.353T>C (p.Ile118Thr)	SLC20A2 (I118T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 21