"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 504528	NM_001386795.1(DTNA):c.126G>A (p.Arg42=)	DTNA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 46424	NM_001386795.1(DTNA):c.243A>G (p.Leu81=)	DTNA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 579329	NM_001386795.1(DTNA):c.482T>C (p.Val161Ala)	DTNA (V161A)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1	GUncertain significance
Select item 1175060	NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys)	DTNA (R313C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 46410	NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)	DTNA (V334I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46431	NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)	DTNA (H406Y +3 more)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 241727	NM_001386795.1(DTNA):c.1404G>A (p.Ala468=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 191652	NM_001386795.1(DTNA):c.1652G>A (p.Arg551His)	DTNA (R467H +14 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1 +1 more	GUncertain significance
Select item 46417	NM_001386795.1(DTNA):c.1744-10G>T	DTNA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 191656	NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)	DTNA (R596Q +12 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity