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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224371	NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter)	DYNC2H1 (R82*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 216489	NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)	DYNC2H1 (L592F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 216490	NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	DYNC2H1 (Y2016C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 528897	NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys)	DYNC2H1 (R2205C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 6507	NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)	DYNC2H1 (R2205H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 1224375	NM_001377.3(DYNC2H1):c.6779T>G (p.Leu2260Arg)	DYNC2H1 (L2260R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1224315	NM_001377.3(DYNC2H1):c.7435C>T (p.Gln2479Ter)	DYNC2H1 (Q2479*)	Single nucleotide variant (nonsense)	not provided +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 302078	NM_001377.3(DYNC2H1):c.9217T>C (p.Ser3073Pro)	DYNC2H1 (S3073P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1224363	NM_001377.3(DYNC2H1):c.9659C>A (p.Ser3220Tyr)	DYNC2H1 (S3220Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224327	NM_001377.3(DYNC2H1):c.10094A>T (p.Glu3365Val)	DYNC2H1 (E3365V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224325	NM_001377.3(DYNC2H1):c.10606G>T (p.Asp3536Tyr)	DYNC2H1 (D3536Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30350	NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp)	DYNC2H1 (G3916D +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1224405	NM_001377.3(DYNC2H1):c.12547C>T (p.Leu4183Phe)	DYNC2H1 (L4183F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446547	NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)	DYNC2H1 (R4284G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic