"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981305	NM_001376.5(DYNC1H1):c.599T>C (p.Ile200Thr)	DYNC1H1 (I200T)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981304	NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg)	DYNC1H1, LOC130056502 (Q967R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GLikely pathogenic
Select item 1701046	NM_001376.5(DYNC1H1):c.6074G>A (p.Arg2025Gln)	DYNC1H1 (R2025Q)	Single nucleotide variant (missense variant)	Abnormal cerebral morphology	GPathogenic
Select item 981308	NM_001376.5(DYNC1H1):c.6151dup (p.Gln2051fs)	DYNC1H1 (Q2051fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 981302	NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His)	DYNC1H1 (R2332H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 981309	NM_001376.5(DYNC1H1):c.8684_8687del (p.Ala2895fs)	DYNC1H1 (A2895fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 981307	NM_001376.5(DYNC1H1):c.10684T>A (p.Trp3562Arg)	DYNC1H1 (W3562R)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981303	NM_001376.5(DYNC1H1):c.11309T>C (p.Leu3770Pro)	DYNC1H1 (L3770P)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 981306	NM_001376.5(DYNC1H1):c.11870T>C (p.Phe3957Ser)	DYNC1H1 (F3957S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance