"Baylor Genetics"[submitter] AND "DYNC2H1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031038	NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val)	DYNC2H1 (F21V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1031040	NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe)	DYNC2H1 (L324F)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 238270	NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	DYNC2H1 (L1228I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 1031036	NM_001377.3(DYNC2H1):c.4231T>C (p.Cys1411Arg)	DYNC2H1 (C1411R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441707	NM_001377.3(DYNC2H1):c.4360C>A (p.Leu1454Met)	DYNC2H1 (L1454M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 290754	NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)	DYNC2H1 (L1683F)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1031037	NM_001377.3(DYNC2H1):c.5176C>T (p.Arg1726Ter)	DYNC2H1 (R1726*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic
Select item 283519	NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val)	DYNC2H1 (I1825V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 238272	NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter)	DYNC2H1 (S1832*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 290760	NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly)	DYNC2H1 (E1933G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 558741	NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]	DYNC2H1 (M1991L +2 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 40068	NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)	DYNC2H1 (R2662Q)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 1460112	NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)	DYNC2H1 (Y2770*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 225033	NM_001377.3(DYNC2H1):c.10648T>C (p.Ser3550Pro)	DYNC2H1 (S3557P +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 560996	NM_001377.3(DYNC2H1):c.11048C>T (p.Pro3683Leu)	DYNC2H1 (P3690L +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 281351	NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe)	DYNC2H1 (S4201F +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity