"Genome-Nilou Lab"[submitter] AND "FAT2"[gene] - ClinVar

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Items: 24

	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
Select item 1273017	NM_001447.3(FAT2):c.3541T>C (p.Tyr1181His)	FAT2 (Y1181H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1220803	NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu)	FAT2 (P1164L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1226726	NM_001447.3(FAT2):c.3375C>T (p.Ile1125=)	FAT2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1257608	NM_001447.3(FAT2):c.3010G>A (p.Gly1004Ser)	FAT2 (G1004S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1239472	NM_001447.3(FAT2):c.2794C>T (p.Leu932=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1259768	NM_001447.3(FAT2):c.2631T>C (p.Val877=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1278729	NM_001447.3(FAT2):c.2562G>A (p.Arg854=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1268601	NM_001447.3(FAT2):c.2361C>T (p.Ile787=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1285258	NM_001447.3(FAT2):c.2057T>C (p.Phe686Ser)	FAT2 (F686S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1249058	NM_001447.3(FAT2):c.1720C>T (p.Arg574Cys)	FAT2 (R574C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45 +1 more	GBenign
Select item 1242230	NM_001447.3(FAT2):c.1527C>T (p.Pro509=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1285259	NM_001447.3(FAT2):c.774G>A (p.Ser258=)	FAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 24