C3281202[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560993	NM_001376.5(DYNC1H1):c.1544C>T (p.Ala515Val)	DYNC1H1 (A515V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029329	NM_001376.5(DYNC1H1):c.4074G>A (p.Lys1358=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 560995	NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr)	DYNC1H1 (R1603T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2582561	NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)	DYNC1H1 (A2050P)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +2 more	GLikely pathogenic
Select item 246307	NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)	DYNC1H1 (A2380T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1033420	NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter)	DYNC1H1 (R2492*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1029331	NM_001376.5(DYNC1H1):c.7779G>C (p.Leu2593Phe)	DYNC1H1 (L2593F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 698624	NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GConflicting classifications of pathogenicity