"Ambry Genetics"[submitter] AND "MAP3K14-AS1"[gene] - ClinVar

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

Search results

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2300855	NM_152343.3(SPATA32):c.969C>A (p.Asp323Glu)	MAP3K14-AS1, SPATA32 (D323E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230765	NM_152343.3(SPATA32):c.844A>G (p.Thr282Ala)	SPATA32, MAP3K14-AS1 (T282A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455167	NM_152343.3(SPATA32):c.835C>T (p.Pro279Ser)	MAP3K14-AS1, SPATA32 (P279S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366204	NM_152343.3(SPATA32):c.808C>G (p.Gln270Glu)	MAP3K14-AS1, SPATA32 (Q270E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608525	NM_152343.3(SPATA32):c.776C>T (p.Pro259Leu)	MAP3K14-AS1, SPATA32 (P259L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243290	NM_152343.3(SPATA32):c.640T>A (p.Ser214Thr)	SPATA32, MAP3K14-AS1 (S214T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399416	NM_152343.3(SPATA32):c.610G>A (p.Glu204Lys)	SPATA32, MAP3K14-AS1 (E204K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534715	NM_152343.3(SPATA32):c.559C>G (p.Pro187Ala)	MAP3K14-AS1, SPATA32 (P187A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352355	NM_152343.3(SPATA32):c.401G>A (p.Arg134Gln)	SPATA32, MAP3K14-AS1 (R134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620739	NM_152343.3(SPATA32):c.377C>A (p.Pro126Gln)	MAP3K14-AS1, SPATA32 (P126Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593223	NM_152343.3(SPATA32):c.334G>A (p.Val112Ile)	MAP3K14-AS1, SPATA32 (V112I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247957	NM_152343.3(SPATA32):c.294C>G (p.Asp98Glu)	SPATA32, MAP3K14-AS1 (D98E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548487	NM_152343.3(SPATA32):c.278C>T (p.Ser93Leu)	MAP3K14-AS1, SPATA32 (S93L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394303	NM_152343.3(SPATA32):c.199G>A (p.Gly67Arg)	SPATA32, MAP3K14-AS1 (G67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242633	NM_152343.3(SPATA32):c.157G>C (p.Asp53His)	SPATA32, MAP3K14-AS1 (D53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356450	NM_152343.3(SPATA32):c.50T>C (p.Val17Ala)	SPATA32, MAP3K14-AS1 (V17A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405749	NM_003954.5(MAP3K14):c.2555C>T (p.Thr852Ile)	MAP3K14, MAP3K14-AS1 (T852I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251935	NM_003954.5(MAP3K14):c.2519C>T (p.Ser840Phe)	MAP3K14-AS1, MAP3K14 (S840F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608984	NM_003954.5(MAP3K14):c.2436C>A (p.Asn812Lys)	LOC126862575, MAP3K14 +1 more (N812K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407240	NM_003954.5(MAP3K14):c.2248C>G (p.Pro750Ala)	LOC126862575, MAP3K14 +1 more (P750A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293641	NM_003954.5(MAP3K14):c.2146C>G (p.Pro716Ala)	LOC126862575, MAP3K14 +1 more (P716A)	Single nucleotide variant (missense variant)	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: 21