Related gene-specific medical variations for Gene (Select 2193) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092917	NM_004461.3(FARSA):c.83C>T (p.Ala28Val)	FARSA, LOC112543454 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092916	NM_004461.3(FARSA):c.82G>T (p.Ala28Ser)	FARSA, LOC112543454 (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092913	NM_004461.3(FARSA):c.214C>T (p.Arg72Trp)	FARSA, FARSA-AS1 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092912	NM_004461.3(FARSA):c.170C>T (p.Ser57Phe)	FARSA, FARSA-AS1 (S57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092910	NM_004461.3(FARSA):c.112G>A (p.Val38Met)	FARSA, LOC112543454 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068613	NM_004461.3(FARSA):c.244C>T (p.Arg82Ter)	FARSA, FARSA-AS1 (R82*)	Single nucleotide variant (nonsense)	Rajab interstitial lung disease with brain calcifications 2	GUncertain significance
Select item 3068268	NM_004461.3(FARSA):c.916G>A (p.Gly306Ser)	FARSA (G306S)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GUncertain significance
Select item 2536414	NM_004461.3(FARSA):c.160G>A (p.Glu54Lys)	FARSA, FARSA-AS1 (E54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483605	NM_004461.3(FARSA):c.65A>C (p.Asp22Ala)	FARSA, LOC112543454 (D22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399873	NM_004461.3(FARSA):c.67A>G (p.Ser23Gly)	FARSA, LOC112543454 (S23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237392	NM_004461.3(FARSA):c.92G>A (p.Gly31Asp)	FARSA, LOC112543454 (G31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance