"GeneDx"[submitter] AND "PDYN"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 337832	NM_024411.5(PDYN):c.*138A>G	PDYN, PDYN-AS1	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 23 +1 more	GBenign
Select item 432778	NM_024411.5(PDYN):c.674G>A (p.Arg225His)	PDYN-AS1, PDYN (R225H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830185	NM_024411.5(PDYN):c.650A>G (p.Lys217Arg)	PDYN, PDYN-AS1 (K217R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337834	NM_024411.5(PDYN):c.600T>C (p.His200=)	PDYN, PDYN-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 337835	NM_024411.5(PDYN):c.575A>T (p.Glu192Val)	PDYN, PDYN-AS1 (E192V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 337839	NM_024411.5(PDYN):c.436A>C (p.Met146Leu)	PDYN-AS1, PDYN (M146L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2577768	NM_024411.5(PDYN):c.430G>C (p.Glu144Gln)	PDYN, PDYN-AS1 (E144Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18458	NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)	PDYN, PDYN-AS1 (R138S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 23 +1 more	GConflicting classifications of pathogenicity
Select item 3375587	NM_024411.5(PDYN):c.380A>G (p.Glu127Gly)	PDYN, PDYN-AS1 (E127G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232554	NM_024411.5(PDYN):c.130-171G>A	PDYN, PDYN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260880	NM_024411.5(PDYN):c.129+189C>T	PDYN, PDYN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706990	NM_024411.5(PDYN):c.129+1G>A	PDYN, PDYN-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1295782	NM_024411.5(PDYN):c.-19-246T>C	PDYN, PDYN-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic