ClinVar for MedGen (Select 903155) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671913	NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)	KCND3 (T600I +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 1445313	NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)	KCND3 (R549C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 1027158	NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)	KCND3 (V630A +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 1014492	NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)	KCND3 (P515T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 995132	NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)	KCND3 (R531H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +3 more	GConflicting classifications of pathogenicity
Select item 961544	NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)	KCND3 (D116N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 934670	NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)	KCND3 (R611Q +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +3 more	GUncertain significance
Select item 698131	NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)	KCND3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 647173	NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)	KCND3 (G608R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 570216	NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)	KCND3 (S499C)	Single nucleotide variant (intron variant +1 more)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 519484	NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)	KCND3 (R431H)	Single nucleotide variant (missense variant)	Brugada syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 519471	NM_001378969.1(KCND3):c.1371G>A (p.Thr457=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 519297	NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)	KCND3 (L586V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 519256	NM_001378969.1(KCND3):c.63G>C (p.Pro21=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +2 more	GLikely benign
Select item 507031	NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 488160	NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)	LAMA4 (I1241V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 432538	NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)	KCND3 (T457M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 415284	NM_001378969.1(KCND3):c.117T>C (p.Asp39=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +3 more	GBenign/Likely benign
Select item 383943	NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)	KCND3 (G371R)	Single nucleotide variant (missense variant)	Brugada syndrome 9 +3 more	GPathogenic/Likely pathogenic
Select item 240084	NM_001378969.1(KCND3):c.669G>C (p.Ser223=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +3 more	GBenign/Likely benign
Select item 192255	NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)	KCND3 (V392I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 192254	NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)	KCND3 (G581R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 192253	NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)	KCND3 (L450F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity

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Items: 23