"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 17

	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 36029	NM_001386795.1(DTNA):c.210G>A (p.Leu70=)	DTNA	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 46427	NM_001386795.1(DTNA):c.604-14G>T	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1 +2 more	GBenign
Select item 201765	NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)	DTNA (T205M)	Single nucleotide variant (missense variant +1 more)	DTNA-related disorder +2 more	GUncertain significance
Select item 201766	NM_001386795.1(DTNA):c.784C>T (p.His262Tyr)	DTNA (H262Y +1 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1 +1 more	GUncertain significance
Select item 518280	NM_001386795.1(DTNA):c.978G>A (p.Lys326=)	DTNA	Single nucleotide variant (synonymous variant +1 more)	Left ventricular noncompaction 1	GLikely benign
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 +2 more	GConflicting classifications of pathogenicity
Select item 1174998	NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu)	DTNA (P18L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46431	NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)	DTNA (H406Y +3 more)	Single nucleotide variant (missense variant +1 more)	Left ventricular noncompaction 1 +2 more	GConflicting classifications of pathogenicity
Select item 377815	NM_001386795.1(DTNA):c.1435-19T>C	DTNA	Single nucleotide variant (intron variant)	Left ventricular noncompaction 1 +1 more	GBenign
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)	Left ventricular noncompaction 1 +2 more	GBenign/Likely benign
Select item 36027	NM_001386795.1(DTNA):c.1903+8G>A	DTNA	Single nucleotide variant (genic downstream transcript variant +1 more)	not specified +1 more	GBenign
Select item 508997	NM_001386795.1(DTNA):c.1918T>C (p.Leu640=)	DTNA	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 1 +1 more	GLikely 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
Select item 36028	NM_001386795.1(DTNA):c.2162+14G>A	DTNA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 222594	NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)	DTNA (T405M +12 more)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 1 +1 more	GUncertain significance