"Genome-Nilou Lab"[submitter] AND "SLC36A1"[gene] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220679	NM_001447.3(FAT2):c.12507C>T (p.Ser4169=)	SLC36A1, FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1249251	NM_001447.3(FAT2):c.12350C>T (p.Pro4117Leu)	FAT2, SLC36A1 (P4117L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1285256	NM_001447.3(FAT2):c.12060-13_12060-11dup	FAT2, SLC36A1	Duplication (intron variant)	Spinocerebellar ataxia 45	GBenign
Select item 1227963	NM_001447.3(FAT2):c.11898T>C (p.His3966=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1226257	NM_001447.3(FAT2):c.11043T>C (p.Asp3681=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1285257	NM_001447.3(FAT2):c.10893G>A (p.Met3631Ile)	FAT2, SLC36A1 (M3631I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1225536	NM_001447.3(FAT2):c.10854C>T (p.Tyr3618=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1232448	NM_001447.3(FAT2):c.10541T>C (p.Leu3514Ser)	FAT2, LOC132089193 +1 more (L3514S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1252863	NM_001447.3(FAT2):c.10350G>A (p.Leu3450=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1178412	NM_001447.3(FAT2):c.9213T>A (p.Thr3071=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1269573	NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser)	FAT2, SLC36A1 (F2428S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1237177	NM_001447.3(FAT2):c.5544T>C (p.Pro1848=)	FAT2, SLC36A1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign