ClinVar for MedGen (Select 855173) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1319939	NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)	CACNG2-DT, IFT27 +1 more (A65D +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 19	GLikely pathogenic
Select item 1285253	NM_001177701.3(IFT27):c.174+21G>A	IFT27	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 19	GBenign
Select item 992407	NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg)	IFT27 (T38R +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 19	GUncertain significance
Select item 585274	NM_001177701.3(IFT27):c.352+1G>T	IFT27, CACNG2-DT	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585273	NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)	IFT27 (Y35C +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GPathogenic
Select item 140462	NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)	CACNG2-DT, IFT27 (C99Y +1 more)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 19	GPathogenic

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