"Ambry Genetics"[submitter] AND "RSL1D1-DT"[gene] - ClinVar

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

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102925	NM_002094.4(GSPT1):c.1900C>T (p.Pro634Ser)	GSPT1, RSL1D1-DT (P634S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619597	NM_002094.4(GSPT1):c.1765C>G (p.Gln589Glu)	GSPT1, RSL1D1-DT (Q588E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311041	NM_002094.4(GSPT1):c.1646A>G (p.Asn549Ser)	GSPT1, RSL1D1-DT (N548S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329155	NM_002094.4(GSPT1):c.1595A>G (p.Asp532Gly)	GSPT1, RSL1D1-DT (D394G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355456	NM_002094.4(GSPT1):c.1363G>A (p.Val455Ile)	GSPT1, RSL1D1-DT (V317I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282988	NM_002094.4(GSPT1):c.1166A>G (p.Asn389Ser)	GSPT1, RSL1D1-DT (N251S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290986	NM_002094.4(GSPT1):c.1107T>A (p.Asn369Lys)	GSPT1, RSL1D1-DT (N369K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540567	NM_002094.4(GSPT1):c.845G>A (p.Arg282His)	GSPT1, RSL1D1-DT (R282H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314300	NM_002094.4(GSPT1):c.728C>T (p.Thr243Met)	GSPT1, RSL1D1-DT (T242M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102932	NM_002094.4(GSPT1):c.712A>G (p.Met238Val)	GSPT1, RSL1D1-DT (M100V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102931	NM_002094.4(GSPT1):c.631G>C (p.Glu211Gln)	GSPT1, RSL1D1-DT (E211Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102929	NM_002094.4(GSPT1):c.611C>T (p.Pro204Leu)	GSPT1, RSL1D1-DT (P203L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269479	NM_002094.4(GSPT1):c.602T>C (p.Val201Ala)	GSPT1, RSL1D1-DT (V200A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396441	NM_002094.4(GSPT1):c.583A>G (p.Ile195Val)	GSPT1, RSL1D1-DT (I194V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374106	NM_002094.4(GSPT1):c.546G>C (p.Glu182Asp)	GSPT1, RSL1D1-DT (E181D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290987	NM_002094.4(GSPT1):c.545A>G (p.Glu182Gly)	GSPT1, RSL1D1-DT (E181G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319178	NM_002094.4(GSPT1):c.523T>A (p.Leu175Met)	GSPT1, RSL1D1-DT (L175M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353995	NM_002094.4(GSPT1):c.517G>C (p.Gly173Arg)	GSPT1, RSL1D1-DT (G172R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484383	NM_002094.4(GSPT1):c.514G>T (p.Gly172Cys)	GSPT1, RSL1D1-DT (G34C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533905	NM_002094.4(GSPT1):c.463C>A (p.Pro155Thr)	GSPT1, RSL1D1-DT (P154T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589051	NM_002094.4(GSPT1):c.400A>G (p.Asn134Asp)	GSPT1, RSL1D1-DT (N134D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477765	NM_002094.4(GSPT1):c.356C>G (p.Pro119Arg)	GSPT1, RSL1D1-DT (P119R)	Single nucleotide variant (missense variant +1 more)	not specified	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: 22