"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 301995	NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 302005	NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)	DYNC2H1 (Q304L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 302018	NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 667370	NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs)	DYNC2H1 (I1088fs)	Duplication (frameshift variant)	Short rib-polydactyly syndrome +2 more	GPathogenic/Likely pathogenic
Select item 196009	NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg)	DYNC2H1 (K1413R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GBenign
Select item 379420	NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)	DYNC2H1 (N1576K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign
Select item 302048	NM_001377.3(DYNC2H1):c.5558+4A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 167011	NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign
Select item 302054	NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 302056	NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign
Select item 93529	NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign
Select item 302073	NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln)	DYNC2H1 (R2871Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 93527	NM_001377.3(DYNC2H1):c.10043-15G>T	DYNC2H1	Single nucleotide variant (intron variant)	Short rib-polydactyly syndrome +3 more	GBenign
Select item 302107	NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val)	DYNC2H1 (A3687V +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign
Select item 302117	NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign
Select item 302120	NM_001377.3(DYNC2H1):c.12366+7G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +3 more	GBenign
Select item 302124	NM_001377.3(DYNC2H1):c.12457-6C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign