ClinVar for MedGen (Select 1823986) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069192	NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg)	CACNA1C (L914R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 3062038	NM_001127222.2(CACNA1A):c.4115C>T (p.Ser1372Leu)	CACNA1A, LOC126862864 (S1372L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 3027509	NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg)	CACNA1C (P244R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 2665091	NM_000719.7(CACNA1C):c.3239A>T (p.Glu1080Val)	CACNA1C (E1077V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GUncertain significance
Select item 2664800	NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)	CACNA1C (I1026V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures +1 more	GLikely pathogenic
Select item 2584627	NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp)	CACNA1C (V2124D +13 more)	Single nucleotide variant (missense variant)	Long qt syndrome 8 +2 more	GUncertain significance
Select item 2584615	NM_000719.7(CACNA1C):c.477+100598G>A	CACNA1C, CACNA1C-AS4	Single nucleotide variant (intron variant)	Long qt syndrome 8 +2 more	GUncertain significance
Select item 2582171	NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter)	CACNA1C (R102*)	Single nucleotide variant (nonsense)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2580232	NM_000719.7(CACNA1C):c.1084A>G (p.Met362Val)	CACNA1C (M359V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GUncertain significance
Select item 2578446	NM_000719.7(CACNA1C):c.4233-1G>A	CACNA1C	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 2576543	NM_000719.7(CACNA1C):c.2322G>C (p.Glu774Asp)	CACNA1C (E771D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GUncertain significance
Select item 2504611	NM_000719.7(CACNA1C):c.815C>T (p.Ala272Val)	CACNA1C (A272V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 2504610	NM_000719.7(CACNA1C):c.1865T>G (p.Val622Gly)	CACNA1C (V619G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GUncertain significance
Select item 2504609	NM_000719.7(CACNA1C):c.1233G>C (p.Glu411Asp)	CACNA1C (E408D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 2444050	NM_000719.7(CACNA1C):c.3502A>G (p.Thr1168Ala)	CACNA1C (T1165A +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GUncertain significance
Select item 1992337	NM_000719.7(CACNA1C):c.2987T>C (p.Ile996Thr)	CACNA1C (I993T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GUncertain significance
Select item 1803055	NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala)	CACNA1C (V257A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 1705745	NM_000719.7(CACNA1C):c.4222C>G (p.Leu1408Val)	CACNA1C (L1395V +7 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GPathogenic
Select item 1705744	NM_000719.7(CACNA1C):c.1969C>T (p.Leu657Phe)	CACNA1C (L654F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GPathogenic
Select item 1510157	NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln)	CACNA1C (R1595Q +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +4 more	GUncertain significance
Select item 956992	NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu)	CACNA1C (P46L)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 526989	NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)	CACNA1C-AS1, CACNA1C (A1717V +10 more)	Single nucleotide variant (missense variant)	Timothy syndrome +5 more	GConflicting classifications of pathogenicity
Select item 496072	NM_000719.7(CACNA1C):c.2854-4G>A	CACNA1C	Single nucleotide variant (intron variant)	Timothy syndrome +7 more	GConflicting classifications of pathogenicity
Select item 450063	NM_000719.7(CACNA1C):c.4087G>A (p.Val1363Met)	CACNA1C (V1363M +8 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 374232	NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro)	CACNA1C (L614P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures +2 more	GConflicting classifications of pathogenicity
Select item 195932	NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 190631	NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)	CACNA1C (I304T)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GConflicting classifications of pathogenicity
Select item 190614	NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val)	CACNA1C (I1295V +2 more)	Single nucleotide variant (missense variant +1 more)	Timothy syndrome +4 more	GConflicting classifications of pathogenicity
Select item 93411	NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)	CACNA1C, CACNA1C-AS1 (A1717G +10 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 17632	NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)	CACNA1C (G406R +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +7 more	GPathogenic

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Items: 30