C1859566[trait identifier] AND "New York Genome Center"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1465677	NM_144596.4(TTC8):c.104C>A (p.Pro35His)	TTC8 (P35H)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +1 more	GUncertain significance
Select item 262515	NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)	TTC8 (D65G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2584609	NM_144596.4(TTC8):c.425C>T (p.Pro142Leu)	TTC8 (P132L +1 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8	GUncertain significance
Select item 2502219	NM_144596.4(TTC8):c.798+256T>C	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 8	GUncertain significance
Select item 884952	NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)	TTC8 (F150L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 423070	NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)	TTC8 (R341W +5 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 8 +3 more	GUncertain significance
Select item 531831	NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)	TTC8 (R443W +5 more)	Single nucleotide variant (missense variant +1 more)	TTC8-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1367817	NM_144596.4(TTC8):c.1420A>G (p.Ile474Val)	TTC8 (I464V +5 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 8 +1 more	GUncertain significance