ClinVar for PMC (Select 3769922) - ClinVar - NCBI

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Links from PMC

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245816	NC_000007.13:g.(?_158649427)_(158738470_?)del	DYNC2I1	Deletion	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2873339	NM_018051.5(DYNC2I1):c.778C>T (p.Arg260Ter)	DYNC2I1 (R214* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2706914	NM_018051.5(DYNC2I1):c.2378dup (p.Gly794fs)	DYNC2I1 (G307fs +4 more)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2186983	NM_018051.5(DYNC2I1):c.562C>T (p.Arg188Ter)	DYNC2I1 (R142* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2162517	NM_018051.5(DYNC2I1):c.712_715del (p.Glu238fs)	DYNC2I1 (E192fs +2 more)	Microsatellite (frameshift variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2025330	NM_018051.5(DYNC2I1):c.378_381del (p.Asp126fs)	DYNC2I1 (D80fs +1 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2000055	NM_018051.5(DYNC2I1):c.527_528del (p.Asp175_Ser176insTer)	DYNC2I1 (L4fs)	Microsatellite (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 1680707	NM_018051.5(DYNC2I1):c.2245A>T (p.Thr749Ser)	DYNC2I1 (T262S +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1680698	NM_018051.5(DYNC2I1):c.1924C>T (p.Arg642Ter)	DYNC2I1 (R155* +4 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 1680649	NM_018051.5(DYNC2I1):c.682C>T (p.Arg228Ter)	DYNC2I1 (R182* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 1680624	NC_000007.13:g.(?_158677235)_(158677330_?)del	DYNC2I1	Deletion	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 1076069	NM_018051.5(DYNC2I1):c.975dup (p.Asp326fs)	DYNC2I1 (D135fs +2 more)	Duplication (frameshift variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 577342	NM_018051.5(DYNC2I1):c.1321C>T (p.Arg441Ter)	DYNC2I1 (R441* +2 more)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 467418	NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)	LOC126806433, TTN (R2317H +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1G +5 more	GConflicting classifications of pathogenicity
Select item 88646	NM_018051.5(DYNC2I1):c.1703-3T>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 88645	NM_018051.5(DYNC2I1):c.2246C>T (p.Thr749Met)	DYNC2I1 (T749M +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 88644	NM_018051.5(DYNC2I1):c.1891C>T (p.Gln631Ter)	DYNC2I1 (Q631* +4 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic