C2749872[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033976	NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro)	CACNA1H (S49P)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6	GUncertain significance
Select item 1032115	NM_021098.3(CACNA1H):c.502G>A (p.Gly168Ser)	CACNA1H (G168S)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6	GUncertain significance
Select item 1032116	NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu)	CACNA1H (P325L)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 529582	NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)	CACNA1H (R590W)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +4 more	GConflicting classifications of pathogenicity
Select item 838806	NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln)	CACNA1H (E718Q)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +3 more	GUncertain significance
Select item 642330	NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)	CACNA1H (T743M)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +3 more	GConflicting classifications of pathogenicity
Select item 2706	NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)	CACNA1H (A876T)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +3 more	GConflicting classifications of pathogenicity
Select item 529571	NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp)	CACNA1H (R902W)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1032112	NM_021098.3(CACNA1H):c.2730G>C (p.Lys910Asn)	CACNA1H (K910N)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6	GUncertain significance
Select item 1032113	NM_021098.3(CACNA1H):c.2789+16C>T	CACNA1H	Single nucleotide variant (intron variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 529616	NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala)	CACNA1H (D1200A)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1032114	NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg)	CACNA1H (S1268R)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +1 more	GUncertain significance
Select item 1028714	NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile)	CACNA1H (T1310I)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6	GUncertain significance
Select item 643746	NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)	CACNA1H (M1933T +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 1028717	NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn)	CACNA1H (T2038N +1 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GUncertain significance
Select item 1028718	NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu)	CACNA1H (P2064L +1 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GUncertain significance
Select item 845134	NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln)	CACNA1H (R2316Q +1 more)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity