ClinVar for Gene (Select 5604) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068994	NM_002755.4(MAP2K1):c.292-2A>G	MAP2K1	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 3066213	NM_002755.4(MAP2K1):c.154G>A (p.Ala52Thr)	MAP2K1 (A30T +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 3	GUncertain significance
Select item 3027419	NM_002755.4(MAP2K1):c.568+14010_568+14032del	MAP2K1	Deletion (intron variant)	not provided	GUncertain significance
Select item 3026635	NM_002755.4(MAP2K1):c.568+14005G>A	MAP2K1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011599	NM_002755.4(MAP2K1):c.81-13del	MAP2K1	Deletion (intron variant)	RASopathy	GBenign
Select item 2997336	NM_002755.4(MAP2K1):c.1113T>G (p.Phe371Leu)	MAP2K1, SNAPC5 (F323L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2979649	NM_002755.4(MAP2K1):c.851C>A (p.Ala284Asp)	MAP2K1 (A236D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2976418	NM_002755.4(MAP2K1):c.69C>A (p.Thr23=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2973700	NM_002755.4(MAP2K1):c.606G>A (p.Gly202=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2967970	NM_002755.4(MAP2K1):c.961-19T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2967006	NM_002755.4(MAP2K1):c.1069-6A>G	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2965175	NM_002755.4(MAP2K1):c.291+9G>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2957078	NM_002755.4(MAP2K1):c.694-13_694-10del	MAP2K1	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2914946	NM_002755.4(MAP2K1):c.600C>T (p.Ser200=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2913558	NM_002755.4(MAP2K1):c.41C>T (p.Ala14Val)	MAP2K1 (A14V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2911998	NM_002755.4(MAP2K1):c.564C>T (p.His188=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2911450	NM_002755.4(MAP2K1):c.516+3G>A	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2911033	NM_002755.4(MAP2K1):c.438+13C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2909239	NM_002755.4(MAP2K1):c.828G>A (p.Gly276=)	MAP2K1	Single nucleotide variant (synonymous variant)	MAP2K1-related condition +1 more	GLikely benign
Select item 2908803	NM_002755.4(MAP2K1):c.983_987del (p.Gly328fs)	MAP2K1 (G328fs +1 more)	Deletion (frameshift variant)	RASopathy	GUncertain significance
Select item 2906867	NM_002755.4(MAP2K1):c.404G>A (p.Ser135Asn)	MAP2K1 (S113N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2905812	NM_002755.4(MAP2K1):c.637G>A (p.Gly213Arg)	MAP2K1 (G165R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2905373	NM_002755.4(MAP2K1):c.292-13del	MAP2K1	Deletion (intron variant)	RASopathy	GBenign
Select item 2904875	NM_002755.4(MAP2K1):c.873G>A (p.Arg291=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2902674	NM_002755.4(MAP2K1):c.396G>C (p.Ala132=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2901688	NM_002755.4(MAP2K1):c.647T>C (p.Ile216Thr)	MAP2K1 (I216T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2895850	NM_002755.4(MAP2K1):c.603T>C (p.Arg201=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2894476	NM_002755.4(MAP2K1):c.247T>C (p.Phe83Leu)	MAP2K1 (F61L +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2893375	NM_002755.4(MAP2K1):c.666C>T (p.Ser222=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2893312	NM_002755.4(MAP2K1):c.1107G>A (p.Val369=)	SNAPC5, MAP2K1	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2892726	NM_002755.4(MAP2K1):c.811C>G (p.Leu271Val)	MAP2K1 (L223V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2891616	NM_002755.4(MAP2K1):c.1101G>A (p.Glu367=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2890395	NM_002755.4(MAP2K1):c.694-7C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2888506	NM_002755.4(MAP2K1):c.1153A>G (p.Ser385Gly)	MAP2K1, SNAPC5 (S337G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2884338	NM_002755.4(MAP2K1):c.1157C>T (p.Thr386Ile)	MAP2K1, SNAPC5 (T338I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2882452	NM_002755.4(MAP2K1):c.87C>T (p.Asn29=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2882054	NM_002755.4(MAP2K1):c.960+1G>T	MAP2K1	Single nucleotide variant (splice donor variant)	RASopathy	GUncertain significance
Select item 2880468	NM_002755.4(MAP2K1):c.173A>G (p.Gln58Arg)	MAP2K1 (Q36R +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2878137	NM_002755.4(MAP2K1):c.63C>T (p.Asn21=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2867987	NM_002755.4(MAP2K1):c.451C>T (p.Leu151=)	MAP2K1	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GLikely benign
Select item 2866013	NM_002755.4(MAP2K1):c.516+11del	MAP2K1	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2864584	NM_002755.4(MAP2K1):c.895+19C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2857741	NM_002755.4(MAP2K1):c.80+6T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GUncertain significance
Select item 2854703	NM_002755.4(MAP2K1):c.569-49_569-6del	MAP2K1	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2853385	NM_002755.4(MAP2K1):c.693+11A>G	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2852668	NM_002755.4(MAP2K1):c.669C>T (p.Phe223=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2848760	NM_002755.4(MAP2K1):c.1140C>A (p.Gly380=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2846662	NM_002755.4(MAP2K1):c.692C>G (p.Ser231Trp)	MAP2K1 (S231W +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2843145	NM_002755.4(MAP2K1):c.899A>G (p.Tyr300Cys)	MAP2K1 (Y300C +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2836006	NM_002755.4(MAP2K1):c.1053T>A (p.Asp351Glu)	MAP2K1, SNAPC5 (D303E +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2835461	NM_002755.4(MAP2K1):c.517-10T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2834958	NM_002755.4(MAP2K1):c.694-16T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2828735	NM_002755.4(MAP2K1):c.649G>A (p.Asp217Asn)	MAP2K1 (D169N +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2821169	NM_002755.4(MAP2K1):c.726G>A (p.Val242=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2816225	NM_002755.4(MAP2K1):c.1069-7del	MAP2K1, SNAPC5	Deletion (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2813730	NM_002755.4(MAP2K1):c.939G>A (p.Leu313=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2807486	NM_002755.4(MAP2K1):c.509G>A (p.Ser170Asn)	MAP2K1 (S170N)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2805796	NM_002755.4(MAP2K1):c.292-20T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2805555	NM_002755.4(MAP2K1):c.438+9C>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2802273	NM_002755.4(MAP2K1):c.694-16T>A	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2800360	NM_002755.4(MAP2K1):c.517-16A>T	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2791786	NM_002755.4(MAP2K1):c.1069-8A>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2789224	NM_002755.4(MAP2K1):c.864C>G (p.Pro288=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2788415	NM_002755.4(MAP2K1):c.460G>A (p.Val154Ile)	MAP2K1 (V154I)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 2785993	NM_002755.4(MAP2K1):c.961-6T>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2781425	NM_002755.4(MAP2K1):c.1069-3C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2770394	NM_002755.4(MAP2K1):c.1054T>G (p.Leu352Val)	MAP2K1, SNAPC5 (L304V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GUncertain significance
Select item 2765429	NM_002755.4(MAP2K1):c.438+9C>A	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2762237	NM_002755.4(MAP2K1):c.1116A>T (p.Ala372=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2759901	NM_002755.4(MAP2K1):c.239G>A (p.Gly80Asp)	MAP2K1 (G58D +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2751343	NM_002755.4(MAP2K1):c.438+16_438+17del	MAP2K1	Microsatellite (intron variant)	RASopathy	GLikely benign
Select item 2747252	NM_002755.4(MAP2K1):c.438+11_438+18del	MAP2K1	Deletion (intron variant)	RASopathy	GLikely benign
Select item 2738672	NM_002755.4(MAP2K1):c.517-1G>T	MAP2K1	Single nucleotide variant (splice acceptor variant)	RASopathy	GUncertain significance
Select item 2731711	NM_002755.4(MAP2K1):c.81-12A>G	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2730799	NM_002755.4(MAP2K1):c.96C>T (p.Ala32=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2726356	NM_002755.4(MAP2K1):c.693+14T>G	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2709627	NM_002755.4(MAP2K1):c.80+2T>C	MAP2K1	Single nucleotide variant (splice donor variant)	RASopathy	GUncertain significance
Select item 2708327	NM_002755.4(MAP2K1):c.81G>A (p.Glu27=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GUncertain significance
Select item 2706922	NM_002755.4(MAP2K1):c.1125C>G (p.Leu375=)	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +2 more)	RASopathy	GLikely benign
Select item 2704008	NM_002755.4(MAP2K1):c.31C>G (p.Leu11Val)	MAP2K1 (L11V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2702394	NM_002755.4(MAP2K1):c.81-7G>C	MAP2K1	Single nucleotide variant (intron variant)	RASopathy	GLikely benign
Select item 2699741	NM_002755.4(MAP2K1):c.529C>A (p.Leu177Met)	MAP2K1 (L129M +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2697509	NM_002755.4(MAP2K1):c.139C>A (p.Arg47=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2697502	NM_002755.4(MAP2K1):c.138del (p.Gln46fs)	MAP2K1 (Q24fs +1 more)	Deletion (frameshift variant)	RASopathy	GUncertain significance
Select item 2695344	NM_002755.4(MAP2K1):c.556A>G (p.Ile186Val)	MAP2K1 (I186V +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 2693869	NM_002755.4(MAP2K1):c.774T>C (p.Val258=)	MAP2K1	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign
Select item 2691459	NM_002755.4(MAP2K1):c.291+14_291+19delinsTCTCAC	MAP2K1	Indel (intron variant)	not specified	GUncertain significance
Select item 2686012	NM_002755.4(MAP2K1):c.635G>C (p.Ser212Thr)	MAP2K1 (S164T +1 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 2684761	GRCh37/hg19 15q22.31(chr15:66349832-66790693)x3	DIS3L, MAP2K1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2672171	NM_002755.4(MAP2K1):c.1023-4T>A	MAP2K1	Single nucleotide variant (intron variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 2672096	NM_002755.4(MAP2K1):c.306_311del (p.Ile103_Lys104del)	MAP2K1	Deletion (inframe_deletion)	Vascular malformation	GLikely pathogenic
Select item 2672091	NM_002755.4(MAP2K1):c.165_179del (p.Gln56_Val60del)	MAP2K1	Deletion (inframe_deletion)	Vascular malformation	GLikely pathogenic
Select item 2645472	NM_002755.4(MAP2K1):c.*63C>T	MAP2K1, SNAPC5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2645471	NM_002755.4(MAP2K1):c.928A>G (p.Ile310Val)	MAP2K1 (I262V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2645470	NM_002755.4(MAP2K1):c.568+14001A>G	MAP2K1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2645469	NM_002755.4(MAP2K1):c.187C>T (p.Leu63=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645468	NM_002755.4(MAP2K1):c.9G>A (p.Lys3=)	MAP2K1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2645467	NC_000015.10:g.66386775C>T	MAP2K1	Single nucleotide variant	not provided	GUncertain significance
Select item 2645466	NC_000015.10:g.66386730G>A	MAP2K1	Single nucleotide variant	not provided	GBenign
Select item 2635574	NM_002755.4(MAP2K1):c.672G>A (p.Val224=)	MAP2K1	Single nucleotide variant (synonymous variant)	MAP2K1-related condition	GUncertain significance

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