"Ambry Genetics"[submitter] AND "TUB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 78730	NC_000011.10:g.8039027C>T	TUB (R52W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2109369	NM_177972.3(TUB):c.78G>C (p.Lys26Asn)	TUB (K81N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2259899	NM_177972.3(TUB):c.157G>T (p.Asp53Tyr)	TUB (D53Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 851113	NM_177972.3(TUB):c.163C>T (p.Arg55Trp)	TUB (R110W +1 more)	Single nucleotide variant (missense variant)	not specified +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 1024667	NM_177972.3(TUB):c.172A>G (p.Ser58Gly)	TUB (S113G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2101887	NM_177972.3(TUB):c.173G>A (p.Ser58Asn)	TUB (S113N +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 1026722	NM_177972.3(TUB):c.298C>T (p.Arg100Cys)	RIC3, TUB (R100C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2557595	NM_177972.3(TUB):c.346G>A (p.Ala116Thr)	RIC3, TUB (A116T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 955486	NM_177972.3(TUB):c.352G>A (p.Gly118Ser)	RIC3, TUB (G118S +1 more)	Single nucleotide variant (missense variant +1 more)	TUB-related disorder +2 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 1711316	NM_177972.3(TUB):c.367G>A (p.Ala123Thr)	RIC3, TUB (A123T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 852997	NM_177972.3(TUB):c.406G>A (p.Gly136Arg)	TUB, RIC3 (G136R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1989593	NM_177972.3(TUB):c.407G>A (p.Gly136Glu)	RIC3, TUB (G136E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3184703	NM_177972.3(TUB):c.428A>T (p.Asp143Val)	RIC3, TUB (D198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412006	NM_177972.3(TUB):c.523C>T (p.Arg175Trp)	TUB, RIC3 (R175W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 955529	NM_177972.3(TUB):c.524G>A (p.Arg175Gln)	RIC3, TUB (R175Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1000512	NM_177972.3(TUB):c.544C>T (p.Arg182Cys)	RIC3, TUB (R182C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1431336	NM_177972.3(TUB):c.545G>A (p.Arg182His)	RIC3, TUB (R182H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1938754	NM_177972.3(TUB):c.592G>A (p.Glu198Lys)	RIC3, TUB (E198K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1003923	NM_177972.3(TUB):c.608A>G (p.Glu203Gly)	RIC3, TUB (E203G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 3330182	NM_177972.3(TUB):c.785G>T (p.Gly262Val)	RIC3, TUB (G262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184701	NM_177972.3(TUB):c.908A>G (p.Lys303Arg)	RIC3, TUB (K303R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1035069	NM_177972.3(TUB):c.1155G>A (p.Met385Ile)	RIC3, TUB (M385I +1 more)	Single nucleotide variant (missense variant)	TUB-related disorder +2 more	GUncertain significance
Select item 1425706	NM_177972.3(TUB):c.1156A>G (p.Ser386Gly)	RIC3, TUB (S441G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1503360	NM_177972.3(TUB):c.1178A>G (p.Asn393Ser)	RIC3, TUB (N448S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2277980	NM_177972.3(TUB):c.1205G>A (p.Arg402His)	RIC3, TUB (R457H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 960338	NM_177972.3(TUB):c.1211G>A (p.Arg404His)	RIC3, TUB (R459H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2323642	NM_177972.3(TUB):c.1226C>G (p.Thr409Arg)	RIC3, TUB (T409R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485066	NM_177972.3(TUB):c.1248T>G (p.Asn416Lys)	RIC3, TUB (N471K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1485765	NM_177972.3(TUB):c.1256C>T (p.Thr419Met)	TUB, RIC3 (T419M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 954012	NM_177972.3(TUB):c.1270G>A (p.Glu424Lys)	RIC3, TUB (E479K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy and obesity +2 more	GUncertain significance
Select item 2473581	NM_177972.3(TUB):c.1354G>A (p.Val452Met)	RIC3, TUB (V452M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330181	NM_177972.3(TUB):c.1420G>A (p.Ala474Thr)	RIC3, TUB (A529T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1381162	NM_177972.3(TUB):c.1477G>A (p.Ala493Thr)	RIC3, TUB (A493T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37