C2750061[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5905	NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	GH-LCR, SCN4A (V1589M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 577938	NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)	GH-LCR, SCN4A (I1462M)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
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 5904	NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	GH-LCR, SCN4A (T1313M)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 5908	NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)	GH-LCR, SCN4A (G1306A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5900	NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	GH-LCR, SCN4A (A1156T)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
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 5896	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	GH-LCR, SCN4A (T704M)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 324551	NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)	SCN4A (R122C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GConflicting classifications of pathogenicity