ClinVar for MedGen (Select 1794218) - ClinVar

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	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 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 997008	NM_025103.4(IFT74):c.256G>A (p.Gly86Ser)	IFT74 (G86S)	Single nucleotide variant (missense variant)	Spermatogenic failure 58	GPathogenic

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