ClinVar for Gene (Select 5594) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3774843	NM_002745.5(MAPK1):c.124G>A (p.Ala42Thr)	MAPK1 (A42T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3771697	NM_002745.5(MAPK1):c.32C>T (p.Pro11Leu)	MAPK1 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3770550	NM_002745.5(MAPK1):c.281C>T (p.Thr94Ile)	MAPK1 (T94I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3587857	NM_002745.5(MAPK1):c.244A>G (p.Asn82Asp)	MAPK1 (N82D)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 3391865	GRCh37/hg19 22q11.21-11.23(chr22:21798907-24636372)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GPathogenic
Select item 3391826	GRCh37/hg19 22q11.21-11.23(chr22:21915096-23652587)x3	BCR, CCDC116 +20 more	Copy number gain	not provided	GLikely pathogenic
Select item 3373126	NM_002745.5(MAPK1):c.357A>C (p.Gln119His)	MAPK1 (Q119H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3370631	NM_002745.5(MAPK1):c.454C>T (p.Pro152Ser)	MAPK1 (P152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367312	NM_002745.5(MAPK1):c.1012T>G (p.Leu338Val)	MAPK1 (L338V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359118	NM_002745.5(MAPK1):c.320T>C (p.Leu107Pro)	MAPK1 (L107P)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GUncertain significance
Select item 3351320	NM_002745.5(MAPK1):c.492+10G>A	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GLikely benign
Select item 3253018	NM_002745.5(MAPK1):c.968C>A (p.Pro323His)	MAPK1 (P323H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3148894	GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3	BCR, C22orf15 +43 more	Copy number gain	not provided	GUncertain significance
Select item 3057799	NM_002745.5(MAPK1):c.280A>G (p.Thr94Ala)	MAPK1 (T94A)	Single nucleotide variant (missense variant)	MAPK1-related disorder	GLikely benign
Select item 3056129	NM_002745.5(MAPK1):c.5CGG[5] (p.Ala7del)	MAPK1 (A7del)	Microsatellite (inframe_indel +2 more)	MAPK1-related disorder	GBenign
Select item 3048373	NM_002745.5(MAPK1):c.610-9C>T	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GLikely benign
Select item 3038296	NM_002745.5(MAPK1):c.120-20CT[5]	MAPK1	Microsatellite (intron variant)	MAPK1-related disorder	GLikely benign
Select item 3029555	NM_002745.5(MAPK1):c.951C>T (p.Tyr317=)	MAPK1	Single nucleotide variant (synonymous variant)	MAPK1-related disorder	GLikely benign
Select item 3029212	NM_002745.5(MAPK1):c.957G>A (p.Pro319=)	MAPK1	Single nucleotide variant (synonymous variant)	MAPK1-related disorder	GLikely benign
Select item 3029021	NM_002745.5(MAPK1):c.241G>A (p.Glu81Lys)	MAPK1 (E81K)	Single nucleotide variant (missense variant)	MAPK1-related disorder	GLikely pathogenic
Select item 3025167	NM_002745.5(MAPK1):c.63G>A (p.Val21=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685674	GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 2685673	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1	CCDC116, GGT2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2684932	GRCh37/hg19 22q11.21-11.22(chr22:22043937-22728895)x3	MAPK1, PPIL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684931	GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	BCR, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 2672898	NM_002745.5(MAPK1):c.790T>C (p.Leu264=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663782	NC_000022.10:g.(?_21797384)_(23630313_?)del	BCR, CCDC116 +23 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2663656	NM_002745.5(MAPK1):c.987C>G (p.Phe329Leu)	MAPK1 (F329L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663452	NM_002745.5(MAPK1):c.103G>A (p.Ala35Thr)	MAPK1 (A35T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652950	NM_002745.5(MAPK1):c.330A>G (p.Thr110=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2652949	NM_002745.5(MAPK1):c.480C>T (p.Thr160=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652948	NM_002745.5(MAPK1):c.868T>C (p.Leu290=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636465	NM_002745.5(MAPK1):c.725-4A>G	MAPK1	Single nucleotide variant (intron variant)	MAPK1-related disorder	GUncertain significance
Select item 2627243	NM_002745.5(MAPK1):c.679A>G (p.Ile227Val)	MAPK1 (I227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582179	NM_002745.5(MAPK1):c.307A>G (p.Ile103Val)	MAPK1 (I103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577796	NM_002745.5(MAPK1):c.525T>A (p.Asp175Glu)	MAPK1 (D175E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571153	NM_002745.5(MAPK1):c.888C>T (p.Phe296=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2545949	NM_002745.5(MAPK1):c.490A>C (p.Lys164Gln)	MAPK1 (K164Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809653	NM_002745.5(MAPK1):c.5CGG[8] (p.Ala7_Gly8insAlaAla)	MAPK1	Microsatellite (inframe_indel +2 more)	MAPK1-related disorder +1 more	GUncertain significance
Select item 1808649	GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GPathogenic
Select item 1808607	GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	AIFM3, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 1807776	GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 1804343	NM_002745.5(MAPK1):c.1054G>T (p.Ala352Ser)	MAPK1 (A352S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804005	NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)	MAPK1 (Y316H)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 1723682	NM_002745.5(MAPK1):c.79A>G (p.Asn27Asp)	MAPK1 (N27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710541	NM_002745.5(MAPK1):c.358C>A (p.His120Asn)	MAPK1 (H120N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708868	NM_002745.5(MAPK1):c.1071A>G (p.Gly357=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1706504	GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	See cases	GPathogenic
Select item 1704734	NM_002745.5(MAPK1):c.956C>T (p.Pro319Leu)	MAPK1 (P319L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703645	GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	ADORA2A, BCR +50 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1699351	NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp)	MAPK1 (A52D)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GUncertain significance
Select item 1695839	NM_002745.5(MAPK1):c.959G>T (p.Ser320Ile)	MAPK1 (S320I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340764	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	BCR, C22orf15 +45 more	Copy number gain	not provided	GPathogenic
Select item 1340186	GRCh37/hg19 22q11.21-11.22(chr22:21974641-22401879)x3	CCDC116, MAPK1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1330164	GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3	PRAME, RIMBP3C +15 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GUncertain significance
Select item 1307140	NM_002745.5(MAPK1):c.914A>G (p.Glu305Gly)	MAPK1 (E305G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299571	NM_002745.5(MAPK1):c.763A>G (p.Ile255Val)	MAPK1 (I255V)	Single nucleotide variant (missense variant)	Noonan syndrome 13	GLikely pathogenic
Select item 1174634	NM_002745.5(MAPK1):c.5CGG[7] (p.Ala7dup)	MAPK1	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	GNB1L, GP1BB +438 more	Copy number gain	See cases	GPathogenic
Select item 981206	GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	ADA2, ADORA2A +124 more	Copy number gain	Cat eye syndrome +1 more	GPathogenic
Select item 980810	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 980809	GRCh37/hg19 22q11.21-11.22(chr22:22079945-22587762)x3	MAPK1, PPM1F +3 more	Copy number gain	not provided	GUncertain significance
Select item 980808	GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3	AIFM3, ARVCF +60 more	Copy number gain	not provided	GPathogenic
Select item 973580	NC_000022.10:g.21514655_22986816del	CCDC116, GGT2 +18 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 929328	GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3	VPREB1, YDJC +12 more	Copy number gain	See cases	GPathogenic
Select item 917749	NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg)	MAPK1 (P323R)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917748	NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln)	MAPK1 (E322Q)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 917746	NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	MAPK1 (D318G)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 917745	NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	MAPK1 (D318N)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 917744	NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	MAPK1 (A174V)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 917743	NM_002745.5(MAPK1):c.238C>T (p.His80Tyr)	MAPK1 (H80Y)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 830215	NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del	CCDC116, GGTLC2 +16 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 816563	GRCh37/hg19 22q11.21-11.22(chr22:22053830-22373083)x3	PPM1F, MAPK1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816562	GRCh37/hg19 22q11.21-11.22(chr22:22044995-22335910)x3	PPM1F-AS1, YPEL1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 816560	GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1	MAPK1, PPM1F +13 more	Copy number loss	not provided	GPathogenic
Select item 816559	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	BCR, CCDC116 +25 more	Copy number gain	not provided	GPathogenic
Select item 816205	GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1	AIFM3, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 816203	GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	ADORA2A, AIFM3 +66 more	Copy number gain	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	ADA2, ADORA2A +133 more	Copy number gain	not provided	GPathogenic
Select item 816196	GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	ADA2, AIFM3 +76 more	Copy number gain	not provided	GPathogenic
Select item 812919	Single allele	IGLL5, TXNRD2 +76 more	Deletion	DiGeorge syndrome	GPathogenic
Select item 733407	NM_002745.5(MAPK1):c.963C>T (p.Asp321=)	MAPK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688960	GRCh37/hg19 22q11.21-11.22(chr22:21915095-22603542)x3	PPM1F, CCDC116 +10 more	Copy number gain	not provided	GUncertain significance
Select item 688599	GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1	BCR, CCDC116 +23 more	Copy number loss	not provided	GPathogenic
Select item 688301	GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1	BCR, CCDC116 +20 more	Copy number loss	not provided	GPathogenic
Select item 686870	GRCh37/hg19 22q11.21-11.22(chr22:22130525-22485776)x3	MAPK1, PPM1F +2 more	Copy number gain	not provided	GUncertain significance
Select item 686829	GRCh37/hg19 22q11.21(chr22:22043338-22173092)x3	MAPK1, PPIL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	ZNF280B, ZNF70 +435 more	Copy number gain	not provided	GPathogenic
Select item 685586	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 625626	GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)	BCR, CCDC116 +23 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 625623	GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674)	CCDC116, GGTLC2 +19 more	Copy number gain	not provided	GLikely pathogenic
Select item 599193	NC_000022.10:g.21808950_22963000del1154051	PPIL2, PPM1F +15 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 565045	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	ADORA2A, BCR +47 more	Copy number loss	not provided	GPathogenic
Select item 565043	GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	BCR, C22orf15 +45 more	Copy number loss	not provided	GPathogenic
Select item 565040	GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1	AIFM3, BCR +39 more	Copy number loss	not provided	GPathogenic
Select item 565032	GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1	BCR, CCDC116 +25 more	Copy number loss	not provided	GPathogenic
Select item 565024	GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1	CCDC116, GGT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 565017	GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1	CCDC116, HIC2 +16 more	Copy number loss	not provided	GPathogenic
Select item 565016	GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3	CCDC116, HIC2 +16 more	Copy number gain	not provided	GUncertain significance

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