"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ARSH"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558976	NM_001011719.2(ARSH):c.147C>T (p.Leu49=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 558977	NM_001011719.2(ARSH):c.192C>T (p.Thr64=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 558978	NM_001011719.2(ARSH):c.340+18T>G	ARSH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558979	NM_001011719.2(ARSH):c.387T>C (p.Cys129=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 558980	NM_001011719.2(ARSH):c.396G>C (p.Pro132=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 558981	NM_001011719.2(ARSH):c.428T>G (p.Val143Gly)	ARSH (V143G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 558982	NM_001011719.2(ARSH):c.563G>A (p.Arg188His)	ARSH (R188H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 558983	NM_001011719.2(ARSH):c.641G>A (p.Ser214Asn)	ARSH (S214N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 558984	NM_001011719.2(ARSH):c.653C>T (p.Thr218Ile)	ARSH (T218I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 558985	NM_001011719.2(ARSH):c.949T>C (p.Leu317=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 558986	NM_001011719.2(ARSH):c.1072C>T (p.Arg358Cys)	ARSH (R358C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 558987	NM_001011719.2(ARSH):c.1160C>T (p.Thr387Met)	ARSH (T387M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 558988	NM_001011719.2(ARSH):c.1489C>G (p.Pro497Ala)	ARSH (P497A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 558989	NM_001011719.2(ARSH):c.1611A>G (p.Pro537=)	ARSH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 558990	NM_001011719.2(ARSH):c.*8C>G	ARSH	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign