"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NIPA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163565	NM_144599.5(NIPA1):c.29C>T (p.Ala10Val)	LOC130056709, NIPA1 (A10V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434358	NM_144599.5(NIPA1):c.70A>G (p.Ser24Gly)	LOC130056709, NIPA1 (S24G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2693831	NM_144599.5(NIPA1):c.139G>A (p.Val47Met)	LOC130056709, NIPA1 (V47M)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 6 +1 more	GUncertain significance
Select item 1413405	NM_144599.5(NIPA1):c.275C>T (p.Thr92Met)	NIPA1 (T17M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 6 +1 more	GUncertain significance
Select item 2523	NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg)	NIPA1 (G106R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 3380253	NM_144599.5(NIPA1):c.562A>G (p.Ile188Val)	NIPA1 (I113V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371301	NM_144599.5(NIPA1):c.773C>T (p.Ser258Leu)	NIPA1 (S183L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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