Related gene-specific medical variations for Gene (Select 6509) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247511	NC_000002.11:g.(?_65216778)_(65248280_?)del	SLC1A4	Deletion	not provided	GPathogenic
Select item 2690000	NM_003038.5(SLC1A4):c.1040C>A (p.Ala347Glu)	SLC1A4 (A127E +2 more)	Single nucleotide variant (missense variant)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GUncertain significance
Select item 2435985	NM_003038.5(SLC1A4):c.442C>T (p.Leu148Phe)	SLC1A4 (L148F)	Single nucleotide variant (missense variant +1 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GUncertain significance
Select item 1288310	NM_003038.3(SLC1A4):c.-291T>C	LOC129933945, SLC1A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280863	NM_001193493.2(SLC1A4):c.-134+633_-134+644del	LOC129933945, SLC1A4	Deletion (intron variant)	not provided	GBenign
Select item 1259866	NM_001193493.2(SLC1A4):c.-134+691C>G	SLC1A4, LOC129933945	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182299	NM_001193493.2(SLC1A4):c.-134+630del	LOC129933945, SLC1A4	Deletion (intron variant)	not provided	GBenign
Select item 813663	NM_003038.5(SLC1A4):c.240G>C (p.Glu80Asp)	SLC1A4 (E80D)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance

ClinVar