"SLC16A12-related disorder"[Disease/phenotype] AND "PreventionGenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060138	NM_213606.4(SLC16A12):c.1230G>A (p.Ala410=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 1652604	NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)	SLC16A12 (S406C)	Single nucleotide variant (missense variant)	SLC16A12-related disorder +2 more	GBenign/Likely benign
Select item 3054720	NM_213606.4(SLC16A12):c.837C>G (p.Leu279=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 3040917	NM_213606.4(SLC16A12):c.534C>T (p.Ile178=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 3040349	NM_213606.4(SLC16A12):c.252C>T (p.Tyr84=)	SLC16A12	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 3037067	NM_213606.4(SLC16A12):c.180C>A (p.Ile60=)	SLC16A12, SLC16A12-AS1	Single nucleotide variant (synonymous variant)	SLC16A12-related disorder	GLikely benign
Select item 2070348	NM_213606.4(SLC16A12):c.97A>G (p.Lys33Glu)	SLC16A12, SLC16A12-AS1 (K33E)	Single nucleotide variant (missense variant)	SLC16A12-related disorder +1 more	GBenign/Likely benign

ClinVar