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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683307	NM_003104.6(SORD):c.67_69del	SORD	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 3167590	NM_003104.6(SORD):c.274G>C (p.Val92Leu)	SORD (V92L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3380281	NM_003104.6(SORD):c.286C>T (p.Pro96Ser)	SORD (P96S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380282	NM_003104.6(SORD):c.481G>A (p.Gly161Arg)	SORD (G161R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380284	NM_003104.6(SORD):c.698C>T (p.Ala233Val)	SORD (A233V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 929258	NM_003104.6(SORD):c.757del (p.Ala253fs)	SORD (A253fs)	Deletion (frameshift variant +1 more)	Neuromuscular disease +5 more	GPathogenic/Likely pathogenic
Select item 3380285	NM_003104.6(SORD):c.868C>T (p.Arg290Trp)	SORD (R290W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar