"GeneReviews"[submitter] AND "GH-LCR"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 21158	NM_000334.4(SCN4A):c.[4468T>C;4479G>A]	GH-LCR, SCN4A (M1493I +1 more)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GPathogenic
Select item 243042	NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	GH-LCR, SCN4A (R1454W)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +1 more	GConflicting classifications of pathogenicity
Select item 221263	NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro)	GH-LCR, SCN4A (R1448P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 5899	NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	GH-LCR, SCN4A (R1448H)	Single nucleotide variant (missense variant)	Delayed gross motor development +3 more	GPathogenic
Select item 221262	NM_000334.4(SCN4A):c.4342C>A (p.Arg1448Ser)	GH-LCR, SCN4A (R1448S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	Gnot provided
Select item 5898	NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	GH-LCR, SCN4A (R1448C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GPathogenic
Select item 5914	NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu)	GH-LCR, SCN4A (V1442E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16	GPathogenic
Select item 21157	NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)	GH-LCR, SCN4A (M1370V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GPathogenic/Likely pathogenic
Select item 143201	NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	GH-LCR, SCN4A (R1135H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +2 more	GPathogenic
Select item 21155	NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)	GH-LCR, SCN4A (R1132Q)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic
Select item 143200	NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)	GH-LCR, SCN4A (R1129Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 21154	NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)	GH-LCR, SCN4A (S906T)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg +7 more	GBenign/Likely benign
Select item 21153	NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)	GH-LCR, SCN4A (V781I)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +8 more	GBenign/Likely benign
Select item 21152	NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile)	GH-LCR, SCN4A (L689I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 5919	NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	GH-LCR, SCN4A (R675Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 5918	NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)	GH-LCR, SCN4A (R675G)	Single nucleotide variant (missense variant)	Abnormality of the musculature +2 more	GPathogenic/Likely pathogenic
Select item 5902	NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	GH-LCR, SCN4A (R675W)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GPathogenic/Likely pathogenic