C3280220[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128939	NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +7 more	GBenign
Select item 516950	NM_001376.5(DYNC1H1):c.962-15dup	DYNC1H1	Duplication (intron variant)	not provided +4 more	GBenign
Select item 674074	NM_001376.5(DYNC1H1):c.1462-41G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +3 more	GBenign
Select item 674075	NM_001376.5(DYNC1H1):c.3333+23A>G	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign
Select item 128935	NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +7 more	GBenign
Select item 674076	NM_001376.5(DYNC1H1):c.4396-25A>G	DYNC1H1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 13 +4 more	GBenign
Select item 674077	NM_001376.5(DYNC1H1):c.8344-30G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign
Select item 128944	NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +7 more	GBenign
Select item 128929	NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +7 more	GBenign
Select item 128932	NM_001376.5(DYNC1H1):c.13372+9G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign