C4015424[trait identifier] AND "New York Genome Center"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1043142	NM_177972.3(TUB):c.115AAG[2] (p.Lys41del)	TUB (K41del +1 more)	Microsatellite (inframe_deletion)	Retinal dystrophy and obesity +1 more	GUncertain significance
Select item 836922	NM_177972.3(TUB):c.164G>A (p.Arg55Gln)	TUB (R110Q +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy and obesity +2 more	GUncertain significance
Select item 834503	NM_177972.3(TUB):c.293C>T (p.Ala98Val)	RIC3, TUB (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy and obesity +2 more	GUncertain significance
Select item 839656	NM_177972.3(TUB):c.358G>A (p.Gly120Ser)	RIC3, TUB (G120S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 962044	NM_177972.3(TUB):c.364G>A (p.Ala122Thr)	RIC3, TUB (A122T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1020820	NM_177972.3(TUB):c.451G>A (p.Val151Met)	RIC3, TUB (V151M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1803813	NM_177972.3(TUB):c.722A>G (p.Glu241Gly)	RIC3, TUB (E241G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy and obesity	GUncertain significance
Select item 1053687	NM_177972.3(TUB):c.728C>T (p.Pro243Leu)	TUB, RIC3 (P243L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1533591	NM_177972.3(TUB):c.885+7T>C	RIC3, TUB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1010424	NM_177972.3(TUB):c.1159G>A (p.Val387Met)	RIC3, TUB (V387M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 956724	NM_177972.3(TUB):c.1210C>T (p.Arg404Cys)	TUB, RIC3 (R404C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 804249	NM_177972.3(TUB):c.1215+1G>A	RIC3, TUB	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1168423	NM_177972.3(TUB):c.1388-10T>G	RIC3, TUB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2502171	NM_177972.3(TUB):c.1425G>C (p.Glu475Asp)	RIC3, TUB (E475D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy and obesity	GUncertain significance
Select item 933300	NM_177972.3(TUB):c.1498G>A (p.Asp500Asn)	RIC3, TUB (D500N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance