RIT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 660674	NC_000001.10:g.(?_155870169)_(156108907_?)dup	ARHGEF2-AS2, ARHGEF2 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2429605	NM_006912.6(RIT1):c.*9T>C	RIT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1098823	NM_006912.6(RIT1):c.659GAAGA[1] (p.Ter220=)	RIT1	Microsatellite (no sequence alteration)	not specified	GUncertain significance
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 2580475	NM_006912.6(RIT1):c.653_655delinsCAC (p.Val218_Thr219delinsAlaPro)	RIT1	Indel (missense variant)	not provided	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 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 917770	NM_006912.6(RIT1):c.563_648dup (p.Ser217delinsArgGlnTyrTrpProTrpArgLysAsnLeuSerProLysThrValTyrGlyArgGlyTer)	RIT1	Duplication (nonsense)	not specified	GUncertain significance
Select item 839801	NM_006912.6(RIT1):c.649del (p.Ser217fs)	RIT1 (S217fs +2 more)	Deletion (frameshift variant)	Noonan syndrome 8	GUncertain significance
Select item 506383	NM_006912.6(RIT1):c.644_647del (p.Lys215fs)	RIT1 (K215fs +2 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1354441	NM_006912.6(RIT1):c.646G>A (p.Asp216Asn)	RIT1 (D233N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 1353685	NM_006912.6(RIT1):c.645del (p.Asp216fs)	RIT1 (D180fs +2 more)	Deletion (frameshift variant)	Noonan syndrome 8	GUncertain significance
Select item 977724	NM_006912.6(RIT1):c.639G>A (p.Lys213=)	RIT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 1334273	NM_006912.6(RIT1):c.635G>A (p.Arg212Gln)	RIT1 (R176Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	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 280150	NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)	RIT1 (R212W +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 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 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 1751944	NM_006912.6(RIT1):c.615G>T (p.Lys205Asn)	RIT1 (K205N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1751549	NM_006912.6(RIT1):c.609A>G (p.Val203=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +1 more	GLikely benign
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 2707741	NM_006912.6(RIT1):c.604_605del (p.Ser202fs)	RIT1 (S219fs +2 more)	Deletion (frameshift variant)	Noonan syndrome 8	GUncertain significance
Select item 229202	NM_006912.6(RIT1):c.604A>T (p.Ser202Cys)	RIT1 (S202C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1141728	NM_006912.6(RIT1):c.603C>T (p.Asn201=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 1751158	NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)	RIT1 (N218S +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GConflicting classifications of pathogenicity
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 702463	NM_006912.6(RIT1):c.594G>A (p.Lys198=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 928483	NM_006912.6(RIT1):c.589T>C (p.Ser197Pro)	RIT1 (S161P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1750294	NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)	RIT1 (K160N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1720204	NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)	RIT1 (K160T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
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 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 280768	NM_006912.6(RIT1):c.575C>T (p.Ala192Val)	RIT1 (A192V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 1749377	NM_006912.6(RIT1):c.573G>C (p.Leu191=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 1964538	NM_006912.6(RIT1):c.570A>G (p.Val190=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
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 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 1545591	NM_006912.6(RIT1):c.564G>A (p.Glu188=)	RIT1	Single nucleotide variant (synonymous variant)	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 1716008	NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)	RIT1 (K151Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1573829	NM_006912.6(RIT1):c.552G>A (p.Arg184=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 561749	NM_006912.6(RIT1):c.551G>T (p.Arg184Met)	RIT1 (R184M +2 more)	Single nucleotide variant (missense variant)	not provided	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 1357417	NM_006912.6(RIT1):c.548G>A (p.Arg183His)	RIT1 (R183H +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
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 392928	NM_006912.6(RIT1):c.547C>G (p.Arg183Gly)	RIT1 (R183G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003981	NM_006912.6(RIT1):c.546A>G (p.Ile182Met)	RIT1 (I146M +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 757796	NM_006912.6(RIT1):c.540G>A (p.Arg180=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 372925	NM_006912.6(RIT1):c.539G>A (p.Arg180Gln)	RIT1 (R180Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1747210	NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)	RIT1 (R180W +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1747060	NM_006912.6(RIT1):c.535G>A (p.Val179Ile)	RIT1 (V143I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1704558	NM_006912.6(RIT1):c.532C>G (p.Leu178Val)	RIT1 (L178V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2562707	NM_006912.6(RIT1):c.531C>T (p.Ala177=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 2812503	NM_006912.6(RIT1):c.519T>C (p.Asp173=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 1674015	NM_006912.6(RIT1):c.516T>C (p.Asp172=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1804359	NM_006912.6(RIT1):c.511A>G (p.Ile171Val)	RIT1 (I135V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461686	NM_006912.6(RIT1):c.510T>C (p.Tyr170=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 424234	NM_006912.6(RIT1):c.508T>C (p.Tyr170His)	RIT1 (Y170H +2 more)	Single nucleotide variant (missense variant)	not provided	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 917582	NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)	RIT1 (Y133C +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	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 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 1522646	NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys)	RIT1 (Y167C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1094970	NM_006912.6(RIT1):c.498A>C (p.Ala166=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +2 more	GLikely benign
Select item 1536339	NM_006912.6(RIT1):c.492T>C (p.Ser164=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 981607	NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)	RIT1 (S128C +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 1334274	NM_006912.6(RIT1):c.488C>T (p.Thr163Ile)	RIT1 (T127I +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
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 2900022	NM_006912.6(RIT1):c.465A>G (p.Glu155=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8	GLikely benign
Select item 653052	NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)	RIT1 (R154Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	GConflicting classifications of pathogenicity
Select item 2447639	NM_006912.6(RIT1):c.459C>A (p.Ala153=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 1740449	NM_006912.6(RIT1):c.441A>G (p.Glu147=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2577076	NM_006912.6(RIT1):c.437A>G (p.Lys146Arg)	RIT1 (K110R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 754521	NM_006912.6(RIT1):c.430-5T>C	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 181519	NM_006912.6(RIT1):c.430-7C>T	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8 +2 more	GBenign
Select item 2145986	NM_006912.6(RIT1):c.430-16C>T	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 1920572	NM_006912.6(RIT1):c.430-18C>T	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 1182007	NM_006912.6(RIT1):c.429+178T>G	RIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204707	NM_006912.6(RIT1):c.429+150G>T	RIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561495	NM_006912.6(RIT1):c.429+142T>C	RIT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1591977	NM_006912.6(RIT1):c.429+20T>C	RIT1	Single nucleotide variant (intron variant)	Noonan syndrome 8	GLikely benign
Select item 2160142	NM_006912.6(RIT1):c.429+15G>A	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 1587120	NM_006912.6(RIT1):c.423A>G (p.Leu141=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	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 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 2060113	NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)	RIT1 (L155R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance

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