C0036069[trait identifier] AND "Joint Genome Diagnostic Labs from Nijm - ClinVar

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Items: 40

	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 997839	NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter)	DYNC2H1 (W179*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 302004	NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 997838	NM_001377.3(DYNC2H1):c.872G>T (p.Cys291Phe)	DYNC2H1 (C291F)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 302008	NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)	DYNC2H1 (H341Y)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 302010	NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 446556	NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)	DYNC2H1 (E436*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
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 188134	NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)	DYNC2H1 (E954K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 997836	NM_001377.3(DYNC2H1):c.3459-1G>A	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 302028	NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 238270	NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	DYNC2H1 (L1228I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 302031	NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala)	DYNC2H1 (T1288A)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
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 516226	NM_001377.3(DYNC2H1):c.4968+18G>A	DYNC2H1	Single nucleotide variant (intron variant)	not specified +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 802716	NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln)	DYNC2H1 (R2481Q)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 446613	NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)	DYNC2H1 (R2532W)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 302072	NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
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 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	DYNC2H1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 997835	NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter)	DYNC2H1 (Q3273*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
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 302088	NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 369661	NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	DYNC2H1 (L3448P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302096	NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 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 997837	NM_001377.3(DYNC2H1):c.11231A>T (p.Glu3744Val)	DYNC2H1 (E3744V +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 289401	NM_001377.3(DYNC2H1):c.11256+18C>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign
Select item 6501	NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	DYNC2H1 (M3762V +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 93528	NM_001377.3(DYNC2H1):c.11649+12C>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +3 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
Select item 380480	NM_001377.3(DYNC2H1):c.12566+17A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign

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Items: 40