19035[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 153233	GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3	AKR1A1, CCDC17 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152663	GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3	CCDC17, GPBP1L1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 549579	NC_000001.11:g.45650769_45929717dup	GPBP1L1, IPP +10 more	Duplication	Primary amenorrhea	GLikely benign
Select item 149989	GRCh38/hg38 1p34.1(chr1:45783014-46028246)x3	LOC122056860, LOC122056861 +5 more	Copy number gain	See cases	GLikely benign
Select item 3123785	NM_015112.3(MAST2):c.29C>T (p.Pro10Leu)	MAST2 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123796	NM_015112.3(MAST2):c.38C>T (p.Pro13Leu)	MAST2 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123771	NM_015112.3(MAST2):c.100C>T (p.Pro34Ser)	MAST2 (P34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251272	NM_015112.3(MAST2):c.142C>G (p.Arg48Gly)	MAST2 (R48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226261	NM_015112.3(MAST2):c.146C>G (p.Thr49Arg)	MAST2 (T49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360295	NM_015112.3(MAST2):c.154G>C (p.Ala52Pro)	MAST2 (A52P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716802	NM_015112.3(MAST2):c.178-8C>G	MAST2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3293393	NM_015112.3(MAST2):c.199C>T (p.Pro67Ser)	MAST2 (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456002	NM_015112.3(MAST2):c.202C>A (p.Leu68Met)	MAST2 (L68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531036	NM_015112.3(MAST2):c.232A>T (p.Ile78Leu)	MAST2 (I78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245281	NM_015112.3(MAST2):c.251A>G (p.Lys84Arg)	MAST2 (K84R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492805	NM_015112.3(MAST2):c.307C>G (p.Leu103Val)	MAST2 (L103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354995	NM_015112.3(MAST2):c.323C>T (p.Ser108Leu)	MAST2 (S108L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123794	NM_015112.3(MAST2):c.340C>G (p.Pro114Ala)	MAST2 (P114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242012	NM_015112.3(MAST2):c.350G>T (p.Ser117Ile)	MAST2 (S117I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296783	NM_015112.3(MAST2):c.499T>C (p.Phe167Leu)	MAST2 (F167L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714068	NM_015112.3(MAST2):c.505C>T (p.Arg169Trp)	MAST2 (R8W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3123813	NM_015112.3(MAST2):c.563G>A (p.Arg188Gln)	MAST2 (R27Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123814	NM_015112.3(MAST2):c.600T>G (p.Ser200Arg)	MAST2 (S39R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123815	NM_015112.3(MAST2):c.608A>G (p.Asp203Gly)	MAST2 (D203G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123816	NM_015112.3(MAST2):c.626C>T (p.Ser209Phe)	MAST2 (S209F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207970	NM_015112.3(MAST2):c.664C>T (p.Arg222Cys)	MAST2 (R222C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346455	NM_015112.3(MAST2):c.880C>T (p.Arg294Trp)	MAST2 (R140W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390876	NM_015112.3(MAST2):c.892C>T (p.Arg298Trp)	MAST2 (R305W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123772	NM_015112.3(MAST2):c.1024A>G (p.Asn342Asp)	MAST2 (N342D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123773	NM_015112.3(MAST2):c.1026C>A (p.Asn342Lys)	MAST2 (N349K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493410	NM_015112.3(MAST2):c.1100G>A (p.Arg367Gln)	MAST2 (R367Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638793	NM_015112.3(MAST2):c.1143A>G (p.Gln381=)	MAST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602009	NM_015112.3(MAST2):c.1204G>A (p.Glu402Lys)	MAST2 (E248K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123774	NM_015112.3(MAST2):c.1255A>G (p.Ile419Val)	MAST2 (I265V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 722872	NM_015112.3(MAST2):c.1263C>T (p.Ala421=)	MAST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528848	NM_015112.3(MAST2):c.1274G>A (p.Arg425His)	MAST2 (R271H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123775	NM_015112.3(MAST2):c.1349A>G (p.Glu450Gly)	MAST2 (E296G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341063	NM_015112.3(MAST2):c.1379G>A (p.Arg460His)	MAST2 (R467H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487962	NM_015112.3(MAST2):c.1406C>T (p.Thr469Ile)	MAST2 (T469I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559009	NM_015112.3(MAST2):c.1473T>G (p.Asp491Glu)	MAST2 (D337E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638794	NM_015112.3(MAST2):c.1495G>C (p.Ala499Pro)	MAST2 (A345P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2331527	NM_015112.3(MAST2):c.1555A>C (p.Ser519Arg)	MAST2 (S519R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123777	NM_015112.3(MAST2):c.1670C>T (p.Ala557Val)	MAST2 (A557V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123778	NM_015112.3(MAST2):c.1748G>A (p.Arg583His)	MAST2 (R429H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545046	NM_015112.3(MAST2):c.1850C>T (p.Ala617Val)	MAST2 (A463V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251731	NM_015112.3(MAST2):c.1942C>T (p.His648Tyr)	MAST2 (H648Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530735	NM_015112.3(MAST2):c.2025G>C (p.Lys675Asn)	MAST2 (K675N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236578	NM_015112.3(MAST2):c.2135G>T (p.Gly712Val)	MAST2 (G558V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 735338	NM_015112.3(MAST2):c.2202T>C (p.Phe734=)	MAST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2400515	NM_015112.3(MAST2):c.2227G>T (p.Val743Leu)	MAST2 (V589L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784948	NM_015112.3(MAST2):c.2236G>A (p.Glu746Lys)	MAST2 (E592K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2322054	NM_015112.3(MAST2):c.2252T>G (p.Leu751Arg)	MAST2 (L751R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293394	NM_015112.3(MAST2):c.2263G>A (p.Ala755Thr)	MAST2 (A762T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527456	NM_015112.3(MAST2):c.2293C>G (p.Gln765Glu)	MAST2 (Q611E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293397	NM_015112.3(MAST2):c.2305G>C (p.Glu769Gln)	MAST2 (E615Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398863	NM_015112.3(MAST2):c.2330A>G (p.Tyr777Cys)	MAST2 (Y623C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403064	NM_015112.3(MAST2):c.2380C>G (p.Leu794Val)	MAST2 (L801V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313050	NM_015112.3(MAST2):c.2440G>A (p.Asp814Asn)	MAST2 (D660N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123780	NM_015112.3(MAST2):c.2447G>A (p.Arg816His)	MAST2 (R662H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307470	NM_015112.3(MAST2):c.2452G>A (p.Glu818Lys)	MAST2 (E818K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594767	NM_015112.3(MAST2):c.2456G>A (p.Arg819Gln)	MAST2 (R819Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123781	NM_015112.3(MAST2):c.2554G>A (p.Val852Met)	MAST2 (V859M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123782	NM_015112.3(MAST2):c.2573G>A (p.Arg858Gln)	MAST2 (R704Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384770	NM_015112.3(MAST2):c.2594G>A (p.Arg865His)	MAST2 (R872H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554205	NM_015112.3(MAST2):c.2596C>T (p.Arg866Trp)	MAST2 (R873W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454953	NM_015112.3(MAST2):c.2597G>A (p.Arg866Gln)	MAST2 (R873Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488268	NM_015112.3(MAST2):c.2605C>T (p.Pro869Ser)	MAST2 (P876S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613829	NM_015112.3(MAST2):c.2616G>T (p.Lys872Asn)	MAST2 (K718N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257859	NM_015112.3(MAST2):c.2618G>A (p.Arg873His)	MAST2 (R719H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523551	NM_015112.3(MAST2):c.2627G>A (p.Ser876Asn)	MAST2 (S876N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123784	NM_015112.3(MAST2):c.2653G>T (p.Gly885Cys)	MAST2 (G731C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123783	NM_015112.3(MAST2):c.2653G>A (p.Gly885Ser)	MAST2 (G731S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293390	NM_015112.3(MAST2):c.2680C>T (p.Arg894Trp)	MAST2 (R740W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590389	NM_015112.3(MAST2):c.2681G>A (p.Arg894Gln)	MAST2 (R894Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460875	NM_015112.3(MAST2):c.2807C>T (p.Ala936Val)	MAST2 (A943V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 722873	NM_015112.3(MAST2):c.2859A>G (p.Gln953=)	MAST2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398023	NM_015112.3(MAST2):c.2897G>T (p.Gly966Val)	MAST2 (G973V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380218	NM_015112.3(MAST2):c.2905G>A (p.Val969Ile)	MAST2 (V976I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538178	NM_015112.3(MAST2):c.2990C>G (p.Pro997Arg)	MAST2 (P843R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395131	NM_015112.3(MAST2):c.2996T>C (p.Met999Thr)	MAST2 (M999T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123786	NM_015112.3(MAST2):c.3070C>T (p.Arg1024Cys)	MAST2 (R1031C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123788	NM_015112.3(MAST2):c.3085C>T (p.Arg1029Trp)	MAST2 (R1036W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293401	NM_015112.3(MAST2):c.3136A>G (p.Lys1046Glu)	MAST2 (K1046E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123789	NM_015112.3(MAST2):c.3151G>A (p.Ala1051Thr)	MAST2 (A1051T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293399	NM_015112.3(MAST2):c.3176T>A (p.Leu1059His)	MAST2 (L1059H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123790	NM_015112.3(MAST2):c.3199T>A (p.Cys1067Ser)	MAST2 (C913S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123791	NM_015112.3(MAST2):c.3301A>G (p.Met1101Val)	MAST2 (M1101V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123792	NM_015112.3(MAST2):c.3326G>A (p.Arg1109Gln)	MAST2 (R1116Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334303	NM_015112.3(MAST2):c.3353T>C (p.Leu1118Pro)	MAST2 (L1118P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123793	NM_015112.3(MAST2):c.3355C>T (p.Arg1119Trp)	MAST2 (R1126W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602829	NM_015112.3(MAST2):c.3619A>G (p.Lys1207Glu)	MAST2 (K1214E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123795	NM_015112.3(MAST2):c.3653G>A (p.Arg1218His)	MAST2 (R1218H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523229	NM_015112.3(MAST2):c.3697C>T (p.Arg1233Cys)	MAST2 (R1232C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557122	NM_015112.3(MAST2):c.3704T>A (p.Ile1235Asn)	MAST2 (I1081N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293395	NM_015112.3(MAST2):c.3821G>C (p.Arg1274Pro)	MAST2 (R1273P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755237	NM_015112.3(MAST2):c.3852C>T (p.Pro1284=)	MAST2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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