ClinVar for MedGen (Select 1648057) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1451353	NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)	IFT140, LOC105371046 (E164*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 1 +1 more	GPathogenic
Select item 837274	NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)	IFT172, LOC126806173 (R1225Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 20 +5 more	GConflicting classifications of pathogenicity
Select item 634600	NM_001199397.3(NEK1):c.2974+1G>T	NEK1	Single nucleotide variant (splice donor variant)	Asphyxiating thoracic dystrophy 1	GUncertain significance
Select item 548623	NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro)	NEK1 (L1137P +6 more)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 1	GUncertain significance
Select item 459279	NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile)	DYNC2H1 (L156I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 266103	NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])	IFT140	Microsatellite (inframe_deletion)	Saldino-Mainzer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 212768	NM_016008.4(DYNC2LI1):c.993+3A>G	DYNC2LI1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 1 +1 more	GPathogenic
Select item 212767	NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter)	ABCG5, DYNC2LI1 (E334* +1 more)	Single nucleotide variant (nonsense +1 more)	Asphyxiating thoracic dystrophy 1 +1 more	GPathogenic
Select item 212766	NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter)	DYNC2LI1 (W124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 212765	NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val)	DYNC2LI1 (L117V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 212764	NM_016008.4(DYNC2LI1):c.993+1G>A	DYNC2LI1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic