ClinVar for Gene (Select 6016) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364800	NM_006912.6(RIT1):c.176A>C (p.Lys59Thr)	RIT1 (K23T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363364	NM_006912.6(RIT1):c.317G>A (p.Arg106Gln)	RIT1 (R106Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361908	NM_006912.6(RIT1):c.22G>A (p.Val8Ile)	RIT1 (V25I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359371	NM_006912.6(RIT1):c.179T>C (p.Ile60Thr)	RIT1 (I24T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349333	NM_006912.6(RIT1):c.69A>T (p.Lys23Asn)	RIT1 (K23N +1 more)	Single nucleotide variant (missense variant +1 more)	RIT1-related disorder	GPathogenic
Select item 3339098	NM_006912.6(RIT1):c.371C>T (p.Thr124Ile)	RIT1 (T124I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3254783	NM_006912.6(RIT1):c.551G>C (p.Arg184Thr)	RIT1 (R148T +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 3252480	NM_006912.6(RIT1):c.172T>G (p.Tyr58Asp)	RIT1 (Y22D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247868	NC_000001.10:g.(?_155870179)_(155874615_?)dup	RIT1	Duplication	Noonan syndrome 8	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely 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 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 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 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 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 3063957	NM_006912.6(RIT1):c.238-12G>C	RIT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3058211	NM_006912.6(RIT1):c.-43-106_-43-88del	RIT1	Deletion (intron variant)	RIT1-related disorder	GLikely benign
Select item 3052813	NM_006912.6(RIT1):c.-43-86T>C	RIT1	Single nucleotide variant (5 prime UTR variant +1 more)	RIT1-related disorder	GLikely benign
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	GConflicting classifications of pathogenicity
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 +1 more	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)	Noonan syndrome 8	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)	Cardiovascular phenotype +1 more	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 +1 more	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)	not provided +1 more	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 +1 more	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 2685831	GRCh37/hg19 1q22(chr1:155864518-156213257)x3	ARHGEF2, BGLAP +14 more	Copy number gain	not provided	GUncertain significance
Select item 2629681	NM_006912.6(RIT1):c.375C>A (p.Asp125Glu)	RIT1 (D125E +2 more)	Single nucleotide variant (missense variant)	RIT1-related disorder	GUncertain significance
Select item 2580475	NM_006912.6(RIT1):c.653_655delinsCAC (p.Val218_Thr219delinsAlaPro)	RIT1	Indel (missense variant)	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
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 2575547	NM_006912.6(RIT1):c.308C>T (p.Thr103Met)	RIT1 (T103M +2 more)	Single nucleotide variant (missense variant)	not provided	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 2506338	NM_006912.6(RIT1):c.78G>A (p.Met26Ile)	RIT1 (M26I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 2447639	NM_006912.6(RIT1):c.459C>A (p.Ala153=)	RIT1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2429605	NM_006912.6(RIT1):c.*9T>C	RIT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 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 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 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)	not provided +1 more	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

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