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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133839	NM_000626.4(CD79B):c.179C>T (p.Thr60Met)	GH-LCR, CD79B (T61M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2026658	NM_000334.4(SCN4A):c.5453C>T (p.Pro1818Leu)	GH-LCR, SCN4A (P1818L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 448286	NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser)	GH-LCR, SCN4A (N1709S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 844062	NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala)	GH-LCR, SCN4A (D1665A)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GUncertain significance
Select item 5897	NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	GH-LCR, SCN4A (M1592V)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 568015	NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)	GH-LCR, SCN4A (R1408C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 5903	NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	GH-LCR, SCN4A (G1306V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GPathogenic
Select item 5909	NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	GH-LCR, SCN4A (V1293I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 859566	NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)	GH-LCR, SCN4A (N1205K)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GConflicting classifications of pathogenicity
Select item 448268	NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys)	SCN4A, GH-LCR (E986K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3380513	NM_000334.4(SCN4A):c.2915C>T (p.Pro972Leu)	GH-LCR, SCN4A (P972L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889452	NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)	GH-LCR, SCN4A (G865R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +6 more	GConflicting classifications of pathogenicity
Select item 2683440	NM_000334.4(SCN4A):c.2575G>A (p.Gly859Arg)	GH-LCR, SCN4A (G859R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 477405	NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser)	GH-LCR, SCN4A (A734S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 477404	NM_000334.4(SCN4A):c.2188G>A (p.Val730Met)	GH-LCR, SCN4A (V730M)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GConflicting classifications of pathogenicity
Select item 1693709	NM_000334.4(SCN4A):c.2156T>C (p.Met719Thr)	GH-LCR, SCN4A (M719T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374058	NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)	GH-LCR, SCN4A (A699T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +3 more	GConflicting classifications of pathogenicity