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

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

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318751	NM_001045556.3(SLA):c.806C>T (p.Ser269Leu)	SLA, TG (S286L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215689	NM_001045556.3(SLA):c.794G>A (p.Ser265Asn)	SLA, TG (S157N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216913	NM_001045556.3(SLA):c.746G>A (p.Arg249Gln)	SLA, TG (R141Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280088	NM_001045556.3(SLA):c.700G>A (p.Ala234Thr)	SLA, TG (A126T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318754	NM_001045556.3(SLA):c.691G>C (p.Glu231Gln)	SLA, TG (E123Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588483	NM_001045556.3(SLA):c.689G>A (p.Arg230Gln)	SLA, TG (R247Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570498	NM_001045556.3(SLA):c.664G>A (p.Glu222Lys)	SLA, TG (E222K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215035	NM_001045556.3(SLA):c.509T>G (p.Val170Gly)	SLA, TG (V170G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280974	NM_001045556.3(SLA):c.506G>A (p.Cys169Tyr)	SLA, TG (C186Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297870	NM_001045556.3(SLA):c.266T>C (p.Leu89Pro)	SLA, TG (L89P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523182	NM_001045556.3(SLA):c.131G>A (p.Arg44His)	SLA, TG (R61H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162694	NM_001045556.3(SLA):c.130C>T (p.Arg44Cys)	SLA, TG (R61C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468323	NM_001045556.3(SLA):c.118C>T (p.Pro40Ser)	SLA, TG (P57S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162693	NM_001045556.3(SLA):c.102G>A (p.Pro34=)	SLA, TG	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2396541	NM_001045556.3(SLA):c.73G>A (p.Asp25Asn)	SLA, TG (D42N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3162692	NM_001045556.3(SLA):c.69T>G (p.Asp23Glu)	SLA, TG (D23E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2556192	NM_001045556.3(SLA):c.69T>A (p.Asp23Glu)	SLA, TG (D40E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2271823	NM_001045556.3(SLA):c.54C>A (p.Asn18Lys)	SLA, TG (N35K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318755	NM_001045556.3(SLA):c.37G>A (p.Glu13Lys)	SLA, TG (E13K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318752	NM_001045556.3(SLA):c.25C>A (p.Pro9Thr)	SLA, TG (P26T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323993	NM_001045556.3(SLA):c.-20C>T	SLA, TG (A11V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3162695	NM_001045556.3(SLA):c.-40-20G>A	SLA, TG (V21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254540	NM_001045556.3(SLA):c.-40-35C>T	SLA, TG (R16W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2400904	NM_003235.5(TG):c.7259C>T (p.Pro2420Leu)	SLA, TG (P2420L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3176620	NM_003235.5(TG):c.7271T>A (p.Ile2424Asn)	SLA, TG (I2424N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601500	NM_003235.5(TG):c.7373C>T (p.Pro2458Leu)	SLA, TG (P2458L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238626	NM_003235.5(TG):c.7412C>T (p.Ala2471Val)	SLA, TG (A2471V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349183	NM_003235.5(TG):c.7450G>A (p.Asp2484Asn)	SLA, TG (D2484N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3176621	NM_003235.5(TG):c.7456C>T (p.His2486Tyr)	SLA, TG (H2486Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379752	NM_003235.5(TG):c.7457A>T (p.His2486Leu)	SLA, TG (H2486L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239687	NM_003235.5(TG):c.7460T>G (p.Phe2487Cys)	SLA, TG (F2487C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223979	NM_003235.5(TG):c.7462C>T (p.Leu2488Phe)	SLA, TG (L2488F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3176622	NM_003235.5(TG):c.7474C>T (p.Pro2492Ser)	SLA, TG (P2492S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538712	NM_003235.5(TG):c.7504G>C (p.Val2502Leu)	SLA, TG (V2502L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621626	NM_003235.5(TG):c.7513G>T (p.Asp2505Tyr)	SLA, TG (D2505Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316934	NM_003235.5(TG):c.7556G>C (p.Arg2519Thr)	SLA, TG (R2519T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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: 36