ClinVar for PubMed (Select 34608571) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3072250	NM_000069.3(CACNA1S):c.5042_5048delTTTCCAG (p.Phe1681fs)	CACNA1S (F1681fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3071792	NM_000069.3(CACNA1S):c.2166del (p.Ile722fs)	CACNA1S (I722fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3070954	NM_000069.3(CACNA1S):c.2550+1G>C	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3070265	NM_000069.3(CACNA1S):c.404dup (p.Thr136fs)	CACNA1S (T136fs)	Duplication (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3070248	NM_000069.3(CACNA1S):c.2069_2070del (p.Leu690fs)	CACNA1S (L690fs)	Microsatellite (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3069708	NM_000069.3(CACNA1S):c.1018G>T (p.Glu340Ter)	CACNA1S (E340*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2932133	NM_000069.3(CACNA1S):c.1949-8_1986del	CACNA1S	Deletion (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1408026	NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs)	CACNA1S (V1621fs)	Duplication (frameshift variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1039768	NM_000334.4(SCN4A):c.3394C>G (p.Arg1132Gly)	GH-LCR, SCN4A (R1132G)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GPathogenic
Select item 21151	NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)	SCN4A (R672C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 17623	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S (R1239H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 5911	NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	SCN4A (R669H)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GPathogenic