MAP3K14-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 59587	GRCh38/hg38 17q21.31(chr17:44928498-45299730)x1	ACBD4, C1QL1 +54 more	Copy number loss	See cases	GPathogenic
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)	not specified	GUncertain significance
Select item 2230765	NM_152343.3(SPATA32):c.844A>G (p.Thr282Ala)	MAP3K14-AS1, SPATA32 (T282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455167	NM_152343.3(SPATA32):c.835C>T (p.Pro279Ser)	MAP3K14-AS1, SPATA32 (P279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366204	NM_152343.3(SPATA32):c.808C>G (p.Gln270Glu)	MAP3K14-AS1, SPATA32 (Q270E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608525	NM_152343.3(SPATA32):c.776C>T (p.Pro259Leu)	MAP3K14-AS1, SPATA32 (P259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321986	NM_152343.3(SPATA32):c.752C>T (p.Ala251Val)	MAP3K14-AS1, SPATA32 (A251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243290	NM_152343.3(SPATA32):c.640T>A (p.Ser214Thr)	MAP3K14-AS1, SPATA32 (S214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399416	NM_152343.3(SPATA32):c.610G>A (p.Glu204Lys)	MAP3K14-AS1, SPATA32 (E204K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534715	NM_152343.3(SPATA32):c.559C>G (p.Pro187Ala)	MAP3K14-AS1, SPATA32 (P187A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168607	NM_152343.3(SPATA32):c.478G>T (p.Ala160Ser)	MAP3K14-AS1, SPATA32 (A160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168606	NM_152343.3(SPATA32):c.466C>T (p.His156Tyr)	MAP3K14-AS1, SPATA32 (H156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168605	NM_152343.3(SPATA32):c.403A>C (p.Ser135Arg)	MAP3K14-AS1, SPATA32 (S135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352355	NM_152343.3(SPATA32):c.401G>A (p.Arg134Gln)	MAP3K14-AS1, SPATA32 (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620739	NM_152343.3(SPATA32):c.377C>A (p.Pro126Gln)	MAP3K14-AS1, SPATA32 (P126Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593223	NM_152343.3(SPATA32):c.334G>A (p.Val112Ile)	MAP3K14-AS1, SPATA32 (V112I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247957	NM_152343.3(SPATA32):c.294C>G (p.Asp98Glu)	MAP3K14-AS1, SPATA32 (D98E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548487	NM_152343.3(SPATA32):c.278C>T (p.Ser93Leu)	MAP3K14-AS1, SPATA32 (S93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168604	NM_152343.3(SPATA32):c.275A>G (p.Asn92Ser)	MAP3K14-AS1, SPATA32 (N92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321985	NM_152343.3(SPATA32):c.229C>G (p.Leu77Val)	MAP3K14-AS1, SPATA32 (L77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321983	NM_152343.3(SPATA32):c.209C>T (p.Pro70Leu)	MAP3K14-AS1, SPATA32 (P70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394303	NM_152343.3(SPATA32):c.199G>A (p.Gly67Arg)	MAP3K14-AS1, SPATA32 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168602	NM_152343.3(SPATA32):c.167C>T (p.Pro56Leu)	MAP3K14-AS1, SPATA32 (P56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321987	NM_152343.3(SPATA32):c.162G>A (p.Leu54=)	MAP3K14-AS1, SPATA32	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2242633	NM_152343.3(SPATA32):c.157G>C (p.Asp53His)	MAP3K14-AS1, SPATA32 (D53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321984	NM_152343.3(SPATA32):c.128A>G (p.Glu43Gly)	MAP3K14-AS1, SPATA32 (E43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356450	NM_152343.3(SPATA32):c.50T>C (p.Val17Ala)	MAP3K14-AS1, SPATA32 (V17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2747822	NM_003954.5(MAP3K14):c.2832G>A (p.Glu944=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1535829	NM_003954.5(MAP3K14):c.2826G>A (p.Gln942=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 2133367	NM_003954.5(MAP3K14):c.2823C>T (p.Gly941=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GUncertain significance
Select item 478060	NM_003954.5(MAP3K14):c.2820T>C (p.His940=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1509452	NM_003954.5(MAP3K14):c.2797G>A (p.Ala933Thr)	MAP3K14, MAP3K14-AS1 (A933T)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1532734	NM_003954.5(MAP3K14):c.2796C>T (p.Phe932=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1023728	NM_003954.5(MAP3K14):c.2783C>A (p.Pro928His)	MAP3K14, MAP3K14-AS1 (P928H)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 575207	NM_003954.5(MAP3K14):c.2779G>A (p.Ala927Thr)	MAP3K14, MAP3K14-AS1 (A927T)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1635971	NM_003954.5(MAP3K14):c.2769G>A (p.Gln923=)	MAP3K14-AS1, MAP3K14	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 3006612	NM_003954.5(MAP3K14):c.2760C>T (p.Ile920=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1132205	NM_003954.5(MAP3K14):c.2754G>A (p.Ser918=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1081852	NM_003954.5(MAP3K14):c.2742G>A (p.Glu914=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 933453	NM_003954.5(MAP3K14):c.2729G>A (p.Arg910His)	MAP3K14, MAP3K14-AS1 (R910H)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 938219	NM_003954.5(MAP3K14):c.2728C>T (p.Arg910Cys)	MAP3K14, MAP3K14-AS1 (R910C)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 2877214	NM_003954.5(MAP3K14):c.2727T>A (p.Val909=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1717522	NM_003954.5(MAP3K14):c.2722C>T (p.Pro908Ser)	MAP3K14, MAP3K14-AS1 (P908S)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1607401	NM_003954.5(MAP3K14):c.2715C>T (p.Asp905=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1170667	NM_003954.5(MAP3K14):c.2706C>G (p.Val902=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2803222	NM_003954.5(MAP3K14):c.2700C>T (p.Ser900=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1653646	NM_003954.5(MAP3K14):c.2694C>T (p.Ala898=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 2006692	NM_003954.5(MAP3K14):c.2690C>G (p.Ala897Gly)	MAP3K14, MAP3K14-AS1 (A897G)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1589190	NM_003954.5(MAP3K14):c.2679+17C>T	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GBenign
Select item 1668638	NM_003954.5(MAP3K14):c.2679+14G>A	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 1558378	NM_003954.5(MAP3K14):c.2679+11C>G	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 758905	NM_003954.5(MAP3K14):c.2679+7G>A	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 2149345	NM_003954.5(MAP3K14):c.2679+6G>T	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GUncertain significance
Select item 640273	NM_003954.5(MAP3K14):c.2679+5G>A	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GUncertain significance
Select item 659333	NM_003954.5(MAP3K14):c.2668A>G (p.Ile890Val)	MAP3K14, MAP3K14-AS1 (I890V)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1427660	NM_003954.5(MAP3K14):c.2639G>A (p.Arg880Gln)	MAP3K14, MAP3K14-AS1 (R880Q)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 745824	NM_003954.5(MAP3K14):c.2628G>A (p.Arg876=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 2122731	NM_003954.5(MAP3K14):c.2627G>A (p.Arg876Gln)	MAP3K14, MAP3K14-AS1 (R876Q)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 660828	NM_003954.5(MAP3K14):c.2615A>G (p.His872Arg)	MAP3K14, MAP3K14-AS1 (H872R)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1015583	NM_003954.5(MAP3K14):c.2593A>G (p.Ile865Val)	MAP3K14, MAP3K14-AS1 (I865V)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1153230	NM_003954.5(MAP3K14):c.2579-9G>A	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 1091425	NM_003954.5(MAP3K14):c.2579-10C>T	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 1151406	NM_003954.5(MAP3K14):c.2579-17C>T	MAP3K14, MAP3K14-AS1	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 1991306	NM_003954.5(MAP3K14):c.2576A>G (p.Asn859Ser)	MAP3K14, MAP3K14-AS1 (N859S)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1419159	NM_003954.5(MAP3K14):c.2557G>A (p.Asp853Asn)	MAP3K14, MAP3K14-AS1 (D853N)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1097668	NM_003954.5(MAP3K14):c.2556C>T (p.Thr852=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 2405749	NM_003954.5(MAP3K14):c.2555C>T (p.Thr852Ile)	MAP3K14, MAP3K14-AS1 (T852I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2838494	NM_003954.5(MAP3K14):c.2553C>G (p.Pro851=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 2041022	NM_003954.5(MAP3K14):c.2549G>A (p.Arg850Gln)	MAP3K14, MAP3K14-AS1 (R850Q)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 2024736	NM_003954.5(MAP3K14):c.2547dup (p.Arg850fs)	MAP3K14, MAP3K14-AS1 (R850fs)	Duplication (frameshift variant)	NIK deficiency	GUncertain significance
Select item 858282	NM_003954.5(MAP3K14):c.2548C>T (p.Arg850Trp)	MAP3K14, MAP3K14-AS1 (R850W)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 651083	NM_003954.5(MAP3K14):c.2543G>A (p.Arg848Gln)	MAP3K14, MAP3K14-AS1 (R848Q)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1433823	NM_003954.5(MAP3K14):c.2530A>G (p.Met844Val)	MAP3K14, MAP3K14-AS1 (M844V)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 2038544	NM_003954.5(MAP3K14):c.2529C>T (p.Asn843=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GUncertain significance
Select item 994378	NM_003954.5(MAP3K14):c.2520C>T (p.Ser840=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency +1 more	GLikely benign
Select item 2251935	NM_003954.5(MAP3K14):c.2519C>T (p.Ser840Phe)	MAP3K14, MAP3K14-AS1 (S840F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1143332	NM_003954.5(MAP3K14):c.2511T>C (p.Ala837=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1559245	NM_003954.5(MAP3K14):c.2502G>A (p.Gln834=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 960379	NM_003954.5(MAP3K14):c.2485C>T (p.His829Tyr)	MAP3K14, MAP3K14-AS1 (H829Y)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1982163	NM_003954.5(MAP3K14):c.2482G>A (p.Val828Ile)	MAP3K14, MAP3K14-AS1 (V828I)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 2694425	NM_003954.5(MAP3K14):c.2481C>T (p.Gly827=)	MAP3K14, MAP3K14-AS1	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1418729	NM_003954.5(MAP3K14):c.2470C>G (p.Leu824Val)	LOC126862575, MAP3K14 +1 more (L824V)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 1563296	NM_003954.5(MAP3K14):c.2461C>A (p.Arg821=)	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 2766956	NM_003954.5(MAP3K14):c.2460G>T (p.Ser820=)	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 2695593	NM_003954.5(MAP3K14):c.2460G>A (p.Ser820=)	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (synonymous variant)	NIK deficiency	GLikely benign
Select item 1419904	NM_003954.5(MAP3K14):c.2446G>T (p.Ala816Ser)	LOC126862575, MAP3K14 +1 more (A816S)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 2171574	NM_003954.5(MAP3K14):c.2437C>A (p.Pro813Thr)	LOC126862575, MAP3K14 +1 more (P813T)	Single nucleotide variant (missense variant)	NIK deficiency	GUncertain significance
Select item 2608984	NM_003954.5(MAP3K14):c.2436C>A (p.Asn812Lys)	LOC126862575, MAP3K14 +1 more (N812K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3016933	NM_003954.5(MAP3K14):c.2434-7G>A	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 544336	NM_003954.5(MAP3K14):c.2434-10G>A	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency +1 more	GBenign/Likely benign
Select item 1653669	NM_003954.5(MAP3K14):c.2434-14T>C	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 2628114	NC_000017.11:g.45266706G>A	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1102733	NM_003954.5(MAP3K14):c.2433+19C>T	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 2182487	NM_003954.5(MAP3K14):c.2433+18C>T	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency	GLikely benign
Select item 1966015	NM_003954.5(MAP3K14):c.2433+16C>T	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency	GUncertain significance
Select item 1580497	NM_003954.5(MAP3K14):c.2433+8G>A	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency +1 more	GConflicting classifications of pathogenicity
Select item 574281	NM_003954.5(MAP3K14):c.2433+3G>A	LOC126862575, MAP3K14 +1 more	Single nucleotide variant (intron variant)	NIK deficiency	GUncertain significance

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