10447[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 147632	GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3	ADM5, BCL2L12 +17 more	Copy number gain	See cases	GBenign
Select item 1677893	NM_006270.5(RRAS):c.*230C>T	RRAS	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2506325	NM_006270.5(RRAS):c.*5G>A	RRAS	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 928938	NM_006270.5(RRAS):c.*4A>G	RRAS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1557570	NM_006270.5(RRAS):c.652C>T (p.Leu218=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 565489	NM_006270.5(RRAS):c.649C>G (p.Leu217Val)	RRAS (L217V)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1366588	NM_006270.5(RRAS):c.646G>A (p.Val216Ile)	RRAS (V216I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1665914	NM_006270.5(RRAS):c.645C>T (p.Cys215=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 2131899	NM_006270.5(RRAS):c.643T>C (p.Cys215Arg)	RRAS (C215R)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1753472	NM_006270.5(RRAS):c.642C>T (p.Pro214=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 582576	NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)	RRAS (G211R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1752782	NM_006270.5(RRAS):c.630C>T (p.Gly210=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 849110	NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)	RRAS (K209N)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 1629000	NM_006270.5(RRAS):c.624G>A (p.Lys208=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 577262	NM_006270.5(RRAS):c.623A>G (p.Lys208Arg)	RRAS (K208R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1752208	NM_006270.5(RRAS):c.620G>A (p.Arg207Lys)	RRAS (R207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225527	NM_006270.5(RRAS):c.616C>T (p.Pro206Ser)	RRAS (P206S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 934671	NM_006270.5(RRAS):c.614C>T (p.Ala205Val)	RRAS (A205V)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 2382698	NM_006270.5(RRAS):c.613G>A (p.Ala205Thr)	RRAS (A205T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2039752	NM_006270.5(RRAS):c.610A>G (p.Ser204Gly)	RRAS (S204G)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 2725369	NM_006270.5(RRAS):c.609C>T (p.Pro203=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome	GLikely benign
Select item 457990	NM_006270.5(RRAS):c.600G>A (p.Pro200=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GBenign/Likely benign
Select item 2059832	NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)	RRAS (P200L)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1003768	NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)	RRAS (P200S)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 3315390	NM_006270.5(RRAS):c.595C>A (p.Pro199Thr)	RRAS (P199T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1750107	NM_006270.5(RRAS):c.585A>G (p.Glu195=)	RRAS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3315391	NM_006270.5(RRAS):c.579C>T (p.Tyr193=)	RRAS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2971617	NM_006270.5(RRAS):c.576A>G (p.Lys192=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome	GUncertain significance
Select item 1331357	NM_006270.5(RRAS):c.573-4A>C	RRAS	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 496319	NM_006270.5(RRAS):c.573-12G>A	RRAS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1629410	NM_006270.5(RRAS):c.573-13C>T	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 2039989	NM_006270.5(RRAS):c.573-15G>A	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 2813323	NM_006270.5(RRAS):c.573-16del	RRAS	Deletion (intron variant)	Noonan syndrome	GLikely benign
Select item 1487458	NM_006270.5(RRAS):c.573-16T>A	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GUncertain significance
Select item 1542721	NM_006270.5(RRAS):c.573-19C>G	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 1574676	NM_006270.5(RRAS):c.572+20T>G	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 2132901	NM_006270.5(RRAS):c.572+13C>A	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 2118815	NM_006270.5(RRAS):c.572+5G>A	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GUncertain significance
Select item 2417016	NM_006270.5(RRAS):c.572+3G>A	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GUncertain significance
Select item 1024870	NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)	RRAS (R191L)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 641321	NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)	RRAS (R191Q)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 2624545	NM_006270.5(RRAS):c.571C>G (p.Arg191Gly)	RRAS (R191G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2083076	NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)	RRAS (R191W)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 527794	NM_006270.5(RRAS):c.568G>C (p.Val190Leu)	RRAS (V190L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2730479	NM_006270.5(RRAS):c.567T>C (p.Ala189=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 3225526	NM_006270.5(RRAS):c.563G>C (p.Arg188Pro)	RRAS (R188P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 928936	NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)	RRAS (R188Q)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 984470	NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)	RRAS (R188W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1380320	NM_006270.5(RRAS):c.560T>C (p.Val187Ala)	RRAS (V187A)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1058138	NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)	RRAS (Q185K)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1103045	NM_006270.5(RRAS):c.543G>A (p.Glu181=)	RRAS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2051586	NM_006270.5(RRAS):c.541G>A (p.Glu181Lys)	RRAS (E181K)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1471792	NM_006270.5(RRAS):c.541G>C (p.Glu181Gln)	RRAS (E181Q)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1153600	NM_006270.5(RRAS):c.540C>T (p.Asp180=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 1508481	NM_006270.5(RRAS):c.535G>A (p.Val179Met)	RRAS (V179M)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1101363	NM_006270.5(RRAS):c.534C>T (p.Asn178=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome	GLikely benign
Select item 2962737	NM_006270.5(RRAS):c.533A>C (p.Asn178Thr)	RRAS (N178T)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1015206	NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)	RRAS (N178S)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 1471474	NM_006270.5(RRAS):c.527G>A (p.Arg176His)	RRAS (R176H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 968209	NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)	RRAS (R176C)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 2729790	NM_006270.5(RRAS):c.516G>T (p.Ser172=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome	GLikely benign
Select item 1554536	NM_006270.5(RRAS):c.516G>A (p.Ser172=)	RRAS	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 705927	NM_006270.5(RRAS):c.516G>C (p.Ser172=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +2 more	GBenign/Likely benign
Select item 527792	NM_006270.5(RRAS):c.515C>T (p.Ser172Leu)	RRAS (S172L)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1006512	NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)	RRAS (E170G)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 2449550	NM_006270.5(RRAS):c.507T>C (p.Phe169=)	RRAS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1744580	NM_006270.5(RRAS):c.498G>A (p.Val166=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1039615	NM_006270.5(RRAS):c.496G>A (p.Val166Met)	RRAS (V166M)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 1138642	NM_006270.5(RRAS):c.495C>T (p.His165=)	RRAS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2144172	NM_006270.5(RRAS):c.493C>G (p.His165Asp)	RRAS (H165D)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1080794	NM_006270.5(RRAS):c.492C>T (p.His164=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome	GLikely benign
Select item 3225524	NM_006270.5(RRAS):c.491A>T (p.His164Leu)	RRAS (H164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1394417	NM_006270.5(RRAS):c.487T>C (p.Ser163Pro)	RRAS (S163P)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 1743561	NM_006270.5(RRAS):c.484G>A (p.Ala162Thr)	RRAS (A162T)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 1743479	NM_006270.5(RRAS):c.483C>T (p.Gly161=)	RRAS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1396086	NM_006270.5(RRAS):c.481G>A (p.Gly161Ser)	RRAS (G161S)	Single nucleotide variant (missense variant)	Noonan syndrome +1 more	GUncertain significance
Select item 1964939	NM_006270.5(RRAS):c.480C>T (p.Phe160=)	RRAS	Single nucleotide variant (synonymous variant)	Noonan syndrome +1 more	GLikely benign
Select item 1713384	NM_006270.5(RRAS):c.475G>C (p.Ala159Pro)	RRAS (A159P)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 582390	NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)	RRAS (S158fs)	Insertion (frameshift variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1742099	NM_006270.5(RRAS):c.463T>C (p.Ser155Pro)	RRAS (S155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1372718	NM_006270.5(RRAS):c.461G>A (p.Arg154Gln)	RRAS (R154Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 645740	NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)	RRAS (P153T)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 1906713	NM_006270.5(RRAS):c.454G>A (p.Val152Ile)	RRAS (V152I)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 2051891	NM_006270.5(RRAS):c.454-4C>T	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 576592	NM_006270.5(RRAS):c.454-6C>T	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GUncertain significance
Select item 1661490	NM_006270.5(RRAS):c.454-7C>T	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 1946820	NM_006270.5(RRAS):c.454-10dup	RRAS	Duplication (intron variant)	Noonan syndrome	GBenign
Select item 759077	NM_006270.5(RRAS):c.454-9T>A	RRAS	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 457989	NM_006270.5(RRAS):c.454-9T>C	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome +1 more	GLikely benign
Select item 496318	NM_006270.5(RRAS):c.454-10C>G	RRAS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2753853	NM_006270.5(RRAS):c.454-11C>G	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 2627312	NM_006270.5(RRAS):c.454-13C>T	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome +1 more	GLikely benign
Select item 1262195	NM_006270.5(RRAS):c.454-19G>C	RRAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098769	NM_006270.5(RRAS):c.454-19G>A	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2716092	NM_006270.5(RRAS):c.454-20C>T	RRAS	Single nucleotide variant (intron variant)	Noonan syndrome	GLikely benign
Select item 1316063	NM_006270.5(RRAS):c.454-44_454-43del	RRAS	Deletion (intron variant)	not provided	GLikely benign
Select item 1318026	NM_006270.5(RRAS):c.453+145A>G	RRAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 496317	NM_006270.5(RRAS):c.453+20C>T	RRAS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign

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