"FARSA-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038545	NM_004461.3(FARSA):c.1412T>C (p.Ile471Thr)	FARSA (I471T)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign
Select item 3055967	NM_004461.3(FARSA):c.1347C>T (p.Pro449=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GBenign
Select item 3056955	NM_004461.3(FARSA):c.1131G>A (p.Val377=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GBenign
Select item 3034463	NM_004461.3(FARSA):c.1126G>T (p.Val376Leu)	FARSA (V376L)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign
Select item 3034623	NM_004461.3(FARSA):c.1125C>T (p.Gly375=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GLikely benign
Select item 3056814	NM_004461.3(FARSA):c.1022A>G (p.Gln341Arg)	FARSA (Q341R)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign
Select item 871679	NM_004461.3(FARSA):c.1012C>T (p.Arg338Cys)	FARSA (R338C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3044769	NM_004461.3(FARSA):c.849G>A (p.Ala283=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GBenign
Select item 3049901	NM_004461.3(FARSA):c.813T>C (p.Arg271=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GLikely benign
Select item 3039366	NM_004461.3(FARSA):c.613C>T (p.Arg205Trp)	FARSA (R205W)	Single nucleotide variant (missense variant)	FARSA-related disorder	GLikely benign
Select item 2649359	NM_004461.3(FARSA):c.486G>A (p.Arg162=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder +1 more	GBenign/Likely benign
Select item 3050040	NM_004461.3(FARSA):c.409C>A (p.Gln137Lys)	FARSA (Q137K)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign