"3billion"[submitter] AND "DYNC1H1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1526100	NM_001376.5(DYNC1H1):c.1867T>C (p.Phe623Leu)	DYNC1H1 (F623L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	GLikely pathogenic
Select item 372934	NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu)	DYNC1H1 (P776L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2572461	NM_001376.5(DYNC1H1):c.3346G>C (p.Val1116Leu)	DYNC1H1 (V1116L)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	GUncertain significance
Select item 2572598	NM_001376.5(DYNC1H1):c.3365C>T (p.Ser1122Phe)	DYNC1H1 (S1122F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1687444	NM_001376.5(DYNC1H1):c.4463G>A (p.Arg1488His)	DYNC1H1 (R1488H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1320210	NM_001376.5(DYNC1H1):c.7145_7148dup (p.Ser2384fs)	DYNC1H1 (S2384fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 694848	NM_001376.5(DYNC1H1):c.7931C>T (p.Thr2644Ile)	DYNC1H1 (T2644I)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures	GUncertain significance
Select item 208734	NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del)	DYNC1H1 (K3254del)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 13 +3 more	GPathogenic/Likely pathogenic
Select item 1687584	NM_001376.5(DYNC1H1):c.9815C>T (p.Ala3272Val)	DYNC1H1 (A3272V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1705612	NM_001376.5(DYNC1H1):c.10561G>C (p.Asp3521His)	DYNC1H1 (D3521H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1321263	NM_001376.5(DYNC1H1):c.11222G>A (p.Arg3741His)	DYNC1H1 (R3741H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1320087	NM_001376.5(DYNC1H1):c.12214G>T (p.Gly4072Cys)	DYNC1H1 (G4072C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic