ClinVar for MedGen (Select 1683734) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068035	NM_006030.4(CACNA2D2):c.2336A>C (p.Asn779Thr)	CACNA2D2, CYB561D2 +2 more (N710T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 3067891	NM_006030.4(CACNA2D2):c.816C>A (p.Asp272Glu)	CACNA2D2 (D203E +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 3065829	NM_006030.4(CACNA2D2):c.2626G>T (p.Val876Phe)	CACNA2D2, CYB561D2 +2 more (V807F +3 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2921168	NM_006030.4(CACNA2D2):c.2143+16G>T	CYB561D2, LOC101928965 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GLikely benign
Select item 2688708	NM_006030.4(CACNA2D2):c.751G>A (p.Gly251Ser)	CACNA2D2 (G182S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2664906	NM_006030.4(CACNA2D2):c.277C>T (p.Gln93Ter)	CACNA2D2 (Q24* +1 more)	Single nucleotide variant (nonsense)	Cerebellar atrophy with seizures and variable developmental delay	GLikely pathogenic
Select item 2585549	NM_006030.4(CACNA2D2):c.135G>A (p.Trp45Ter)	CACNA2D2 (W45*)	Single nucleotide variant (nonsense +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GLikely pathogenic
Select item 2506452	NM_019024.3(HEATR5B):c.4905+3A>G	HEATR5B	Single nucleotide variant (intron variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2439695	NM_006030.4(CACNA2D2):c.1570G>A (p.Val524Met)	CACNA2D2 (V455M +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2439693	NM_006030.4(CACNA2D2):c.1357C>T (p.Pro453Ser)	CACNA2D2 (P384S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2196735	NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)	CACNA2D2, CYB561D2 +2 more (I984M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay +2 more	GUncertain significance
Select item 1805265	NM_006030.4(CACNA2D2):c.1126G>T (p.Glu376Ter)	CACNA2D2 (E307* +1 more)	Single nucleotide variant (nonsense)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 1706533	NM_006030.4(CACNA2D2):c.3362T>G (p.Leu1121Arg)	CACNA2D2, CYB561D2 +1 more (L1054R +4 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GLikely pathogenic
Select item 1696632	NM_006030.4(CACNA2D2):c.1039C>T (p.Gln347Ter)	CACNA2D2 (Q278* +1 more)	Single nucleotide variant (nonsense)	Cerebellar atrophy with seizures and variable developmental delay	GLikely pathogenic
Select item 1687585	NM_006030.4(CACNA2D2):c.1840del (p.Asp614fs)	CACNA2D2 (D545fs +1 more)	Deletion (frameshift variant)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 1526049	NM_006030.4(CACNA2D2):c.1701+2T>C	CACNA2D2	Single nucleotide variant (splice donor variant)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 1479293	NM_006030.4(CACNA2D2):c.3052G>T (p.Val1018Leu)	CACNA2D2, CYB561D2 +2 more (V1025L +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GUncertain significance
Select item 1419472	NM_006030.4(CACNA2D2):c.727C>T (p.Pro243Ser)	CACNA2D2 (P174S +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GUncertain significance
Select item 1325389	NM_006030.4(CACNA2D2):c.829C>T (p.Arg277Ter)	CACNA2D2 (R208* +1 more)	Single nucleotide variant (nonsense)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 1184356	NM_006030.4(CACNA2D2):c.289-6424G>A	CACNA2D2	Single nucleotide variant (intron variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 1057070	NM_006030.4(CACNA2D2):c.785-3C>T	CACNA2D2	Single nucleotide variant (intron variant)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GUncertain significance
Select item 1029001	NM_006030.4(CACNA2D2):c.1907+3A>C	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 863596	NM_006030.4(CACNA2D2):c.223C>T (p.Arg75Trp)	CACNA2D2 (R6W +1 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay +2 more	GUncertain significance
Select item 637021	NM_006030.4(CACNA2D2):c.2971G>A (p.Asp991Asn)	CACNA2D2, CYB561D2 +2 more (D998N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 637020	NM_006030.4(CACNA2D2):c.3137T>C (p.Leu1046Pro)	CACNA2D2, CYB561D2 +1 more (L1046P +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 626071	NM_006030.4(CACNA2D2):c.861G>C (p.Ser287=)	CACNA2D2	Single nucleotide variant (synonymous variant)	CACNA2D2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 626070	NM_006030.4(CACNA2D2):c.3099-9dup	CYB561D2, LOC127898564 +1 more	Duplication (intron variant)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GConflicting classifications of pathogenicity
Select item 578284	NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter)	CACNA2D2 (Q519* +1 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 530501	NM_006030.4(CACNA2D2):c.782C>T (p.Pro261Leu)	CACNA2D2 (P261L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 461319	NM_006030.4(CACNA2D2):c.3116G>A (p.Arg1039Lys)	CACNA2D2, CYB561D2 +1 more (R1046K +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay +2 more	GUncertain significance
Select item 252556	NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe)	CACNA2D2 (L54F)	Single nucleotide variant (missense variant +1 more)	CACNA2D2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 240279	NM_006030.4(CACNA2D2):c.3398C>T (p.Pro1133Leu)	CYB561D2, LOC127898564 +1 more (P1133L +3 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay +3 more	GBenign/Likely benign
Select item 100785	NM_006030.4(CACNA2D2):c.1295del (p.Asn432fs)	CACNA2D2 (N363fs +1 more)	Deletion (frameshift variant)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 40230	NM_006030.4(CACNA2D2):c.3119T>C (p.Leu1040Pro)	CACNA2D2, CYB561D2 +1 more (L1040P +2 more)	Single nucleotide variant (missense variant)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic

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Items: 34