C0036069[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 29

	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 2441073	NM_001377.3(DYNC2H1):c.747G>A (p.Leu249=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2441070	NM_001377.3(DYNC2H1):c.1037A>G (p.Tyr346Cys)	DYNC2H1 (Y346C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 879398	NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly)	DYNC2H1 (R578G)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 6506	NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)	DYNC2H1 (R587C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 2079827	NM_001377.3(DYNC2H1):c.2624A>G (p.His875Arg)	DYNC2H1 (H875R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 1015731	NM_001377.3(DYNC2H1):c.2974G>A (p.Asp992Asn)	DYNC2H1 (D992N)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 2441071	NM_001377.3(DYNC2H1):c.3188C>G (p.Pro1063Arg)	DYNC2H1 (P1063R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1322793	NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter)	DYNC2H1 (Q1365*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 2441076	NM_001377.3(DYNC2H1):c.4166C>T (p.Thr1389Ile)	DYNC2H1 (T1389I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2439947	NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)	DYNC2H1 (Q1407*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 591096	NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs)	DYNC2H1 (Q1566fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 302049	NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)	DYNC2H1 (R1881K)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 302051	NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)	DYNC2H1 (L1931F)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 699787	NM_001377.3(DYNC2H1):c.6894-5C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 950114	NM_001377.3(DYNC2H1):c.7492A>G (p.Ile2498Val)	DYNC2H1 (I2498V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GUncertain significance
Select item 2441072	NM_001377.3(DYNC2H1):c.7793C>G (p.Pro2598Arg)	DYNC2H1 (P2598R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441077	NM_001377.3(DYNC2H1):c.7912T>A (p.Ser2638Thr)	DYNC2H1 (S2638T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 407161	NM_001377.3(DYNC2H1):c.8457A>G (p.Ile2819Met)	DYNC2H1 (I2819M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 6508	NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)	DYNC2H1 (R2838*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic
Select item 2441075	NM_001377.3(DYNC2H1):c.9041G>T (p.Arg3014Ile)	DYNC2H1 (R3014I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	Fetal growth restriction +7 more	GConflicting classifications of pathogenicity
Select item 597991	NM_001377.3(DYNC2H1):c.9349G>A (p.Glu3117Lys)	DYNC2H1 (E3117K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 423715	NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)	DYNC2H1 (R3407* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2441074	NM_001377.3(DYNC2H1):c.10655A>C (p.Gln3552Pro)	DYNC2H1 (Q3552P +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2255327	NM_001377.3(DYNC2H1):c.11135G>A (p.Arg3712His)	DYNC2H1 (R3712H +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 2690593	NM_001377.3(DYNC2H1):c.11390dup (p.Asn3797fs)	DYNC2H1 (N3797fs +1 more)	Duplication (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2688988	NM_001377.3(DYNC2H1):c.12567-3C>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 291231	NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu)	DYNC2H1 (I4222L +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity

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Items: 29