ClinVar for MedGen (Select 1794217) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2170750	NM_025103.4(IFT74):c.1343G>A (p.Arg448His)	IFT74 (R448H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 22 +3 more	GUncertain significance
Select item 1928056	NM_025103.4(IFT74):c.587C>T (p.Ala196Val)	IFT74 (A196V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1925311	NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)	IFT74 (E120*)	Single nucleotide variant (nonsense)	Joubert syndrome 40 +1 more	GPathogenic/Likely pathogenic
Select item 1686853	NM_025103.4(IFT74):c.975-2_975-1del	IFT74	Deletion (splice acceptor variant)	Joubert syndrome 40	GPathogenic
Select item 1415312	NM_025103.4(IFT74):c.152G>A (p.Arg51His)	IFT74 (R51H)	Single nucleotide variant (missense variant)	Joubert syndrome 40 +2 more	GUncertain significance
Select item 1401716	NM_025103.4(IFT74):c.902C>T (p.Pro301Leu)	IFT74 (P301L)	Single nucleotide variant (missense variant)	Joubert syndrome 40 +3 more	GUncertain significance
Select item 1300253	NM_025103.4(IFT74):c.853G>T (p.Glu285Ter)	IFT74	Single nucleotide variant (nonsense)	Joubert syndrome 40 +1 more	GPathogenic/Likely pathogenic
Select item 1300252	NM_025103.4(IFT74):c.85C>T (p.Arg29Ter)	IFT74	Single nucleotide variant (nonsense)	Joubert syndrome 40	GLikely pathogenic
Select item 1300251	NM_025103.4(IFT74):c.306-24A>G	IFT74	Single nucleotide variant (intron variant)	Joubert syndrome 40	GPathogenic
Select item 1300250	NM_025103.4(IFT74):c.92del (p.Leu31fs)	IFT74 (L31fs)	Deletion (frameshift variant)	Joubert syndrome 40	GPathogenic
Select item 1300249	NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)	IFT74	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic