"Ambry Genetics"[submitter] AND "RIT1"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 506383	NM_006912.6(RIT1):c.644_647del (p.Lys215fs)	RIT1 (K215fs +2 more)	Microsatellite (frameshift variant)	Noonan syndrome 8 +3 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 1334273	NM_006912.6(RIT1):c.635G>A (p.Arg212Gln)	RIT1 (R176Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 280150	NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)	RIT1 (R212W +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +4 more	GConflicting classifications of pathogenicity
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)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1751158	NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)	RIT1 (N218S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
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 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 280768	NM_006912.6(RIT1):c.575C>T (p.Ala192Val)	RIT1 (A192V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 3154713	NM_006912.6(RIT1):c.572T>C (p.Leu191Pro)	RIT1 (L191P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 757796	NM_006912.6(RIT1):c.540G>A (p.Arg180=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +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)	Noonan syndrome 8 +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)	Noonan syndrome 8 +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)	Noonan syndrome 8 +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 1674015	NM_006912.6(RIT1):c.516T>C (p.Asp172=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +1 more	GLikely benign
Select item 1461686	NM_006912.6(RIT1):c.510T>C (p.Tyr170=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +1 more	GLikely benign
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)	Cardiovascular phenotype +2 more	GLikely benign
Select item 653052	NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)	RIT1 (R154Q +2 more)	Single nucleotide variant (missense variant)	not provided +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 1740449	NM_006912.6(RIT1):c.441A>G (p.Glu147=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	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 +1 more	GLikely benign
Select item 1737689	NM_006912.6(RIT1):c.408A>G (p.Ser136=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 516224	NM_006912.6(RIT1):c.393T>C (p.Leu131=)	RIT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2323464	NM_006912.6(RIT1):c.391C>A (p.Leu131Ile)	RIT1 (L95I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447641	NM_006912.6(RIT1):c.385G>A (p.Val129Met)	RIT1 (V129M +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1642465	NM_006912.6(RIT1):c.381A>C (p.Thr127=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 981606	NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)	RIT1 (D126N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197790	NM_006912.6(RIT1):c.375C>T (p.Asp125=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 2077068	NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)	RIT1 (D125G +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 1734459	NM_006912.6(RIT1):c.373G>A (p.Asp125Asn)	RIT1 (D125N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 936786	NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)	RIT1 (R87C +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 1733585	NM_006912.6(RIT1):c.364C>A (p.Arg122=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1733052	NM_006912.6(RIT1):c.359G>T (p.Arg120Leu)	RIT1 (R120L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1733049	NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)	RIT1 (R120Q +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 1732769	NM_006912.6(RIT1):c.356A>G (p.Tyr119Cys)	RIT1 (Y119C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1334275	NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)	RIT1 (F114Y +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GUncertain significance
Select item 2074736	NM_006912.6(RIT1):c.335G>A (p.Arg112His)	RIT1 (R112H +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 404258	NM_006912.6(RIT1):c.334C>T (p.Arg112Cys)	RIT1 (R112C +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 1462672	NM_006912.6(RIT1):c.326A>G (p.His109Arg)	RIT1 (H73R +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	GUncertain significance
Select item 1551057	NM_006912.6(RIT1):c.291C>A (p.Ile97=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1797382	NM_006912.6(RIT1):c.289A>C (p.Ile97Leu)	RIT1 (I114L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 60509	NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	RIT1 (G95A +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +5 more	GPathogenic
Select item 2904607	NM_006912.6(RIT1):c.273G>A (p.Arg91=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +1 more	GLikely benign
Select item 265328	NM_006912.6(RIT1):c.270G>T (p.Met90Ile)	RIT1 (M90I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 190305	NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	RIT1 (M90I +2 more)	Single nucleotide variant (missense variant)	RIT1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1723261	NM_006912.6(RIT1):c.264G>A (p.Gln88=)	RIT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2447640	NM_006912.6(RIT1):c.259G>A (p.Asp87Asn)	RIT1 (D104N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 257696	NM_006912.6(RIT1):c.252C>T (p.Ala84=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +2 more	GLikely benign
Select item 183410	NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	RIT1 (A84V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 183409	NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	RIT1 (T83P +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 370035	NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)	RIT1 (F82L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 183408	NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	RIT1 (F82V +2 more)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 183405	NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	RIT1 (E81G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 701984	NM_006912.6(RIT1):c.231T>C (p.Ala77=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 850519	NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)	RIT1 (A41G +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3225954	NM_006912.6(RIT1):c.204T>C (p.Pro68=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3314560	NM_006912.6(RIT1):c.191T>C (p.Ile64Thr)	RIT1 (I64T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779149	NM_006912.6(RIT1):c.173A>G (p.Tyr58Cys)	RIT1 (Y22C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 60506	NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	RIT1 (A57G +2 more)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic
Select item 1776803	NM_006912.6(RIT1):c.162T>A (p.Ile54=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 772635	NM_006912.6(RIT1):c.156C>T (p.Pro52=)	RIT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 3225953	NM_006912.6(RIT1):c.155C>T (p.Pro52Leu)	RIT1 (P16L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225952	NM_006912.6(RIT1):c.151G>A (p.Asp51Asn)	RIT1 (D15N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 842237	NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)	RIT1 (P47L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2861906	NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)	RIT1 (I6T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 1749915	NM_006912.6(RIT1):c.120G>A (p.Gln40=)	RIT1	Single nucleotide variant (synonymous variant)	Noonan syndrome 8 +1 more	GLikely benign
Select item 3225951	NM_006912.6(RIT1):c.117G>A (p.Met39Ile)	RIT1 (M39I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1333286	NM_006912.6(RIT1):c.116T>C (p.Met39Thr)	RIT1 (M39T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +1 more	GUncertain significance
Select item 1736204	NM_006912.6(RIT1):c.115A>G (p.Met39Val)	RIT1 (M39V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1730784	NM_006912.6(RIT1):c.113C>T (p.Thr38Ile)	RIT1 (T2I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1788778	NM_006912.6(RIT1):c.108C>T (p.Ala36=)	RIT1	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1675000	NM_006912.6(RIT1):c.99G>A (p.Gly33=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome 8 +1 more	GLikely benign
Select item 224122	NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	RIT1 (K23Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 430531	NM_006912.6(RIT1):c.46G>A (p.Ala16Thr)	RIT1 (A16T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 505721	NM_006912.6(RIT1):c.45C>G (p.Pro15=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Noonan syndrome and Noonan-related syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1738648	NM_006912.6(RIT1):c.41G>T (p.Ser14Ile)	RIT1 (S14I +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1738645	NM_006912.6(RIT1):c.41G>A (p.Ser14Asn)	RIT1 (S31N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 509441	NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)	RIT1 (S13N +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2210968	NM_006912.6(RIT1):c.35G>C (p.Cys12Ser)	RIT1 (C12S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 2888837	NM_006912.6(RIT1):c.18C>T (p.Arg6=)	RIT1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 662410	NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)	RIT1 (T22S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1362438	NM_006912.6(RIT1):c.11G>A (p.Gly4Glu)	RIT1 (G4E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance

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Items: 90