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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_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 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 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_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	LOC130000303, SLC20A2 +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	SMIM19, LOC130000303 +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	SMIM19, LOC130000303 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 20