"Gharavi Laboratory, Columbia University"[submitter] AND "GH-LCR"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 592007	NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg)	GH-LCR, SCN4A (C1730R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591497	NM_000334.4(SCN4A):c.4784C>T (p.Ala1595Val)	SCN4A, GH-LCR (A1595V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 633660	NM_000334.4(SCN4A):c.4379G>A (p.Arg1460Gln)	GH-LCR, SCN4A (R1460Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591137	NM_000334.4(SCN4A):c.3992C>T (p.Pro1331Leu)	SCN4A, GH-LCR (P1331L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591176	NM_000334.4(SCN4A):c.3936G>C (p.Met1312Ile)	GH-LCR, SCN4A (M1312I)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 591948	NM_000334.4(SCN4A):c.2254C>T (p.Leu752Phe)	GH-LCR, SCN4A (L752F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar