"Ambry Genetics"[submitter] AND "SALL2"[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157572	NM_001364564.1(SALL2):c.2984C>A (p.Pro995His)	SALL2 (P997H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205017	NM_001364564.1(SALL2):c.2962A>G (p.Ile988Val)	SALL2 (I988V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1932176	NM_001364564.1(SALL2):c.2945C>T (p.Pro982Leu)	SALL2 (P982L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2616138	NM_001364564.1(SALL2):c.2908C>T (p.His970Tyr)	SALL2 (H970Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274822	NM_001364564.1(SALL2):c.2848C>T (p.Arg950Trp)	SALL2 (R952W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233459	NM_001364564.1(SALL2):c.2712G>T (p.Glu904Asp)	SALL2 (E769D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386167	NM_001364564.1(SALL2):c.2473A>G (p.Ser825Gly)	SALL2 (S692G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403057	NM_001364564.1(SALL2):c.2441C>T (p.Ala814Val)	SALL2 (A814V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211800	NM_001364564.1(SALL2):c.2431G>A (p.Gly811Arg)	SALL2 (G678R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604922	NM_001364564.1(SALL2):c.2264C>T (p.Ser755Leu)	SALL2 (S757L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247714	NM_001364564.1(SALL2):c.2206G>A (p.Glu736Lys)	SALL2 (E601K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157569	NM_001364564.1(SALL2):c.2159G>T (p.Gly720Val)	SALL2 (G585V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225581	NM_001364564.1(SALL2):c.2126G>A (p.Arg709Gln)	SALL2 (R709Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280820	NM_001364564.1(SALL2):c.2027T>C (p.Phe676Ser)	SALL2 (F676S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481225	NM_001364564.1(SALL2):c.2017C>T (p.Arg673Cys)	SALL2 (R540C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157567	NM_001364564.1(SALL2):c.1933C>T (p.Arg645Cys)	SALL2 (R647C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489921	NM_001364564.1(SALL2):c.1924C>T (p.Arg642Trp)	SALL2 (R509W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157565	NM_001364564.1(SALL2):c.1907G>A (p.Arg636Gln)	SALL2 (R636Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455350	NM_001364564.1(SALL2):c.1862C>T (p.Ser621Leu)	SALL2 (S486L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2071151	NM_001364564.1(SALL2):c.1841C>T (p.Thr614Ile)	SALL2 (T479I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3157564	NM_001364564.1(SALL2):c.1811C>T (p.Ala604Val)	SALL2 (A469V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219648	NM_001364564.1(SALL2):c.1795C>T (p.Arg599Trp)	SALL2 (R601W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593451	NM_001364564.1(SALL2):c.1702A>G (p.Thr568Ala)	SALL2 (T435A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157563	NM_001364564.1(SALL2):c.1638G>A (p.Met546Ile)	SALL2 (M548I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157562	NM_001364564.1(SALL2):c.1634G>A (p.Arg545His)	SALL2 (R410H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357280	NM_001364564.1(SALL2):c.1631C>T (p.Thr544Ile)	SALL2 (T411I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206210	NM_001364564.1(SALL2):c.1625C>T (p.Thr542Met)	SALL2 (T544M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316254	NM_001364564.1(SALL2):c.1458G>T (p.Glu486Asp)	SALL2 (E486D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258050	NM_001364564.1(SALL2):c.1427T>G (p.Val476Gly)	SALL2 (V341G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157561	NM_001364564.1(SALL2):c.1378G>A (p.Glu460Lys)	SALL2 (E325K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157560	NM_001364564.1(SALL2):c.1207G>A (p.Val403Ile)	SALL2 (V268I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461976	NM_001364564.1(SALL2):c.1121G>A (p.Arg374His)	SALL2 (R239H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489831	NM_001364564.1(SALL2):c.991C>T (p.Leu331Phe)	SALL2 (L331F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549095	NM_001364564.1(SALL2):c.880C>T (p.His294Tyr)	SALL2 (H296Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237832	NM_001364564.1(SALL2):c.733C>T (p.Pro245Ser)	SALL2 (P245S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322451	NM_001364564.1(SALL2):c.685A>T (p.Thr229Ser)	SALL2 (T229S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345910	NM_001364564.1(SALL2):c.641C>A (p.Thr214Lys)	SALL2 (T214K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157575	NM_001364564.1(SALL2):c.553C>T (p.Arg185Trp)	SALL2 (R187W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157574	NM_001364564.1(SALL2):c.532C>A (p.Pro178Thr)	SALL2 (P180T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325609	NM_001364564.1(SALL2):c.406G>C (p.Gly136Arg)	SALL2 (G136R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157573	NM_001364564.1(SALL2):c.347G>A (p.Gly116Glu)	SALL2 (G116E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392058	NM_001364564.1(SALL2):c.310G>A (p.Val104Met)	SALL2 (V104M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234062	NM_001364564.1(SALL2):c.305C>T (p.Ser102Phe)	SALL2 (S104F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483051	NM_001364564.1(SALL2):c.275C>G (p.Thr92Arg)	SALL2 (T92R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157571	NM_001364564.1(SALL2):c.271G>A (p.Asp91Asn)	SALL2 (D91N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530306	NM_001364564.1(SALL2):c.251A>C (p.His84Pro)	SALL2 (H84P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157570	NM_001364564.1(SALL2):c.227C>T (p.Ser76Phe)	SALL2 (S76F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157568	NM_001364564.1(SALL2):c.209C>T (p.Pro70Leu)	SALL2 (P72L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463676	NM_001364564.1(SALL2):c.134C>T (p.Thr45Ile)	SALL2 (T45I +1 more)	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: 49