ClinVar for MedGen (Select 815563) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065119	NM_006912.6(RIT1):c.520G>A (p.Val174Ile)	RIT1 (V138I +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 3015050	NM_006912.6(RIT1):c.163+10A>G	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 3010912	NM_006912.6(RIT1):c.164-27_164-17dup	RIT1	Duplication (intron variant)	Noonan syndrome 8	GLikely benign
Select item 3005177	NM_006912.6(RIT1):c.578T>C (p.Met193Thr)	RIT1 (M210T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2997029	NM_006912.6(RIT1):c.316C>A (p.Arg106=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2996697	NM_006912.6(RIT1):c.211C>G (p.Leu71Val)	RIT1 (L88V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2994474	NM_006912.6(RIT1):c.384T>C (p.Pro128=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2990085	NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)	RIT1 (T109A +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2988960	NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)	RIT1 (S10T +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 8	GUncertain significance
Select item 2987704	NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)	RIT1 (Y170C +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2987133	NM_006912.6(RIT1):c.634del (p.Arg212fs)	RIT1 (R176fs +2 more)	Deletion (frameshift variant)	Noonan syndrome 8	GUncertain significance
Select item 2983165	NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)	RIT1 (Y169N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2979269	NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)	RIT1 (K139N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2969416	NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)	RIT1 (A109S +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2965475	NM_006912.6(RIT1):c.237+9T>C	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2917810	NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)	RIT1 (R183C +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2908618	NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)	RIT1 (S43T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2904607	NM_006912.6(RIT1):c.273G>A (p.Arg91=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2900022	NM_006912.6(RIT1):c.465A>G (p.Glu155=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2898525	NM_006912.6(RIT1):c.23T>C (p.Val8Ala)	RIT1 (V25A +1 more)	Single nucleotide variant (missense variant +1 more)	RIT1-related condition +1 more	GUncertain significance
Select item 2891588	NM_006912.6(RIT1):c.638del (p.Lys213fs)	RIT1 (K213fs +2 more)	Deletion (frameshift variant)	Noonan syndrome 8	GUncertain significance
Select item 2888837	NM_006912.6(RIT1):c.18C>T (p.Arg6=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome 8	GLikely benign
Select item 2886296	NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)	RIT1 (A206T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2882248	NM_006912.6(RIT1):c.507C>T (p.Tyr169=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2865869	NM_006912.6(RIT1):c.366A>G (p.Arg122=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2861906	NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)	RIT1 (I6T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2856167	NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)	RIT1 (G149A +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2855430	NM_006912.6(RIT1):c.45C>T (p.Pro15=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome 8	GLikely benign
Select item 2842577	NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)	RIT1 (K151N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2839531	NM_006912.6(RIT1):c.107-13_107-10del	RIT1	Deletion (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2836266	NM_006912.6(RIT1):c.253A>G (p.Met85Val)	RIT1 (M102V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2831856	NM_006912.6(RIT1):c.164-18C>G	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2826329	NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)	RIT1 (G17E +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 8	GUncertain significance
Select item 2820648	NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)	RIT1 (R170K +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2819711	NM_006912.6(RIT1):c.237+19T>A	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2819620	NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)	RIT1 (T5I +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 8	GUncertain significance
Select item 2812503	NM_006912.6(RIT1):c.519T>C (p.Asp173=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2808502	NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)	RIT1 (A69D +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2808384	NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)	RIT1 (D68E +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2781912	NM_006912.6(RIT1):c.107-6T>G	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2781858	NM_006912.6(RIT1):c.421C>T (p.Leu141=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2780482	NM_006912.6(RIT1):c.107-9C>A	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2773163	NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)	RIT1 (S157N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2769679	NM_006912.6(RIT1):c.651A>G (p.Ser217=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2758844	NM_006912.6(RIT1):c.659G>A (p.Ter220=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2754171	NM_006912.6(RIT1):c.238-9T>A	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2736970	NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)	RIT1 (P64T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2735631	NM_006912.6(RIT1):c.578T>G (p.Met193Arg)	RIT1 (M157R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2735347	NM_006912.6(RIT1):c.48T>C (p.Ala16=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome 8	GLikely benign
Select item 2713481	NM_006912.6(RIT1):c.237+11C>A	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2707741	NM_006912.6(RIT1):c.604_605del (p.Ser202fs)	RIT1 (S219fs +2 more)	Deletion (frameshift variant)	Noonan syndrome 8	GUncertain significance
Select item 2689872	NM_006912.6(RIT1):c.365G>A (p.Arg122Gln)	RIT1 (R122Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2430378	NM_006912.6(RIT1):c.292A>T (p.Ile98Phe)	RIT1 (I115F +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2427841	NM_006912.6(RIT1):c.237+18G>A	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2425659	NC_000001.10:g.(?_155870179)_(155880552_?)dup	RIT1	Duplication	Noonan syndrome 8	GUncertain significance
Select item 2425658	NC_000001.10:g.(?_155877093)_(155880300_?)del	RIT1	Deletion	Noonan syndrome 8	GUncertain significance
Select item 2425657	NC_000001.10:g.(?_155581953)_(155880552_?)del	DAP3, GON4L +4 more	Deletion	not provided	GPathogenic
Select item 2421085	NM_006912.6(RIT1):c.261C>T (p.Asp87=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2418986	NM_006912.6(RIT1):c.93T>C (p.Gly31=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome 8	GLikely benign
Select item 2198762	NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)	RIT1 (K164Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2194163	NM_006912.6(RIT1):c.107-12C>T	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2191798	NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)	RIT1 (R50W +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2185691	NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)	RIT1 (S181* +2 more)	Single nucleotide variant (nonsense)	Noonan syndrome 8	GUncertain significance
Select item 2177115	NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)	RIT1 (R62G +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2176691	NM_006912.6(RIT1):c.566C>T (p.Ala189Val)	RIT1 (A189V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2167719	NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)	RIT1 (R148G +2 more)	Single nucleotide variant (missense variant)	RIT1-related condition +1 more	GUncertain significance
Select item 2160885	NM_006912.6(RIT1):c.338A>T (p.Glu113Val)	RIT1 (E77V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2160142	NM_006912.6(RIT1):c.429+15G>A	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2156259	NM_006912.6(RIT1):c.503G>A (p.Arg168His)	RIT1 (R185H +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2145986	NM_006912.6(RIT1):c.430-16C>T	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2128336	NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)	RIT1 (L208Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2126165	NM_006912.6(RIT1):c.163+12C>T	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2123225	NM_006912.6(RIT1):c.429+9A>G	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2119404	NM_006912.6(RIT1):c.387G>A (p.Val129=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 2086344	NM_006912.6(RIT1):c.164-5T>C	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2077068	NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)	RIT1 (D125G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2074736	NM_006912.6(RIT1):c.335G>A (p.Arg112His)	RIT1 (R112H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2064942	NM_006912.6(RIT1):c.163+16A>C	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2060119	NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)	RIT1 (D104N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2060113	NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)	RIT1 (L155R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2057517	NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)	RIT1 (R223T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2027325	NM_006912.6(RIT1):c.163+17C>G	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2020099	NM_006912.6(RIT1):c.430-18C>A	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2013173	NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)	RIT1 (N98S +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 2010050	NM_006912.6(RIT1):c.212_213del (p.Leu71fs)	RIT1 (L35fs +2 more)	Deletion (frameshift variant)	Noonan syndrome 8	GUncertain significance
Select item 1998920	NM_006912.6(RIT1):c.351T>C (p.Leu117=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 1979660	NM_006912.6(RIT1):c.258G>A (p.Arg86=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 1976683	NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)	RIT1 (T91A +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 1972860	NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)	RIT1 (R206S +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 1964538	NM_006912.6(RIT1):c.570A>G (p.Val190=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 1959775	NM_006912.6(RIT1):c.146A>T (p.Asp49Val)	RIT1 (D49V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 1958430	NM_006912.6(RIT1):c.607G>A (p.Val203Ile)	RIT1 (V167I +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 1920572	NM_006912.6(RIT1):c.430-18C>T	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 1919251	NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)	RIT1 (F114L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 1907194	NM_006912.6(RIT1):c.489A>G (p.Thr163=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 1903746	NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)	RIT1 (R23P +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 8	GUncertain significance
Select item 1898445	NM_006912.6(RIT1):c.531C>A (p.Ala177=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 1804784	NM_006912.6(RIT1):c.381A>G (p.Thr127=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +1 more	GLikely benign
Select item 1789271	NM_006912.6(RIT1):c.22G>T (p.Val8Phe)	RIT1 (V25F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1788778	NM_006912.6(RIT1):c.108C>T (p.Ala36=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign

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