"Clinical Genetics, Academic Medical Center"[submitter] AND "KCND3"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 386374	NM_001378969.1(KCND3):c.1519-4G>T	KCND3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GBenign
Select item 806190	NM_001378969.1(KCND3):c.1372-6dup	KCND3	Duplication (intron variant)	Spinocerebellar ataxia type 19/22 +1 more	GBenign/Likely benign
Select item 386373	NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=)	KCND3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259600	NM_001378969.1(KCND3):c.1269+15C>A	KCND3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 511240	NM_001378969.1(KCND3):c.1106+10C>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22 +1 more	GBenign/Likely benign
Select item 415285	NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
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 264148	NM_001378969.1(KCND3):c.627G>C (p.Thr209=)	KCND3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 380951	NM_001378969.1(KCND3):c.375G>A (p.Pro125=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 129314	NM_001378969.1(KCND3):c.264C>T (p.Pro88=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +2 more	GBenign
Select item 415284	NM_001378969.1(KCND3):c.117T>C (p.Asp39=)	KCND3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign